Mutation
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This document discusses mutation, which is a change in the nucleotide sequence of an organism's genome. There are several types of mutations, including substitution, insertion, inversion, and deletion. Mutations can occur spontaneously due to processes like tautomerism, depurination, and deamination, or can be induced by mutagenic agents like radiation, chemicals, and base analogs. Examples of genetic disorders caused by mutations in humans are Down syndrome, which results from an extra copy of chromosome 21, Edwards syndrome from an extra copy of chromosome 18, and Patau syndrome involving extra genetic material from chromosome 13.
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Genetic Mutation
A genetic mutation is a permanent change in the nucleotide sequence of an organism's genome. Mutations can arise from unrepaired DNA or RNA damage, replication errors, or mobile genetic elements. They play a role in both normal and abnormal biological processes like evolution, cancer development, and the immune system. There are two main types of mutations: somatic mutations, which occur in non-reproductive cells and are not inherited, and germline mutations, which occur in reproductive cells and can be passed to offspring. Mutations can be classified in several ways based on their structure, function, protein effects, and inheritance patterns. They can arise spontaneously from DNA damage or errors, or be induced by chemicals, radiation, and other mutagens
chromosomal mutation
Chromosomal mutations are changes in chromosome structure or number that can be caused by physical or chemical agents. There are two main types of chromosomal mutations: structural changes including deletions, duplications, translocations, and inversions, and numerical changes such as aneuploidy where there is an excess or deficiency of a single chromosome. Examples of aneuploidies in humans are Down syndrome, Edward syndrome, and Patau syndrome. Chromosomal mutations can have varying effects depending on the genes involved, from no symptoms to developmental delays or medical conditions.
Mutation, Types and Causes, Chromosomal Variation in Number, Gene Mutation
- Mutation is a change in the nucleotide sequence of an organism's genome. There are several types of mutations including substitution, insertion, deletion, and frameshift.
- Mutations can be caused by natural DNA replication errors or external mutagens like radiation, chemicals, and viruses. These mutagens can directly damage DNA or produce reactive molecules that cause mutations.
- Several genetic disorders in humans are caused by chromosomal mutations, such as Down syndrome from trisomy 21, Edward's syndrome from trisomy 18, and Patau syndrome from trisomy 13. Other disorders involve the loss or gain of whole chromosomes or chromosome segments.
Mutation
- A mutation is a change in the nucleotide sequence of an organism's genome that can occur spontaneously, during DNA replication, or be induced by mutagens.
- Mutations can be inherited from a parent or occur somatically in an individual's cells. They can affect single nucleotides in genes or entire chromosomes.
- Common types of mutations include point mutations, deletions, duplications, inversions, translocations, and frameshift mutations. These genetic changes can have neutral, harmful, or beneficial effects and contribute to evolution, disease, and immune system development.
Mutation and It's types.
This is a brief overview of the Types of Mutation. I have compiled all the salient features of the Mutation and shared in this presentation, hope you guys like it.
Nucleosomes
Nucleosomes are the fundamental repeating subunits of eukaryotic chromatin that package DNA into a compact structure. They are composed of 146 base pairs of DNA wrapped around an octamer of histone proteins, resembling beads on a string. This represents the first order of DNA compaction. Higher orders of compaction involve the nucleosomes winding further to form solenoid fibers, scaffold loops, chromatids, and finally full chromosomes. Nucleosomes allow the long DNA molecules to fit within cell nuclei while also regulating genetic expression.
Mutation gene and chromosomal
Mutations are sudden changes in the genetic material of an organism that can be caused by mutagens like chemicals, radiation, or errors in DNA replication. There are two main types of mutations: gene mutations, which alter the DNA sequence of a gene, and chromosomal mutations, which involve changes to chromosomes like deletions, duplications, inversions, and translocations of DNA segments. Gene mutations can be point mutations, which substitute a single nucleotide, or frameshift mutations, which insert or delete nucleotides and alter the reading frame. Chromosomal mutations can cause diseases like Down syndrome, which results from trisomy of chromosome 21.
Point mutations ppt
1. The document discusses various types of point mutations including single nucleotide polymorphisms (SNPs) that involve changes to one nucleotide.
2. It provides examples of how mutating a single codon in an mRNA through different point mutations can result in missense, silent, or nonsense mutations.
3. Studies found that a single nucleotide polymorphism in the SLC24A5 gene, which determines whether an amino acid is alanine or threonine, accounts for 25-38% of the difference in skin color between Europeans and Africans.
Recommended
Genetic Mutation
A genetic mutation is a permanent change in the nucleotide sequence of an organism's genome. Mutations can arise from unrepaired DNA or RNA damage, replication errors, or mobile genetic elements. They play a role in both normal and abnormal biological processes like evolution, cancer development, and the immune system. There are two main types of mutations: somatic mutations, which occur in non-reproductive cells and are not inherited, and germline mutations, which occur in reproductive cells and can be passed to offspring. Mutations can be classified in several ways based on their structure, function, protein effects, and inheritance patterns. They can arise spontaneously from DNA damage or errors, or be induced by chemicals, radiation, and other mutagens
chromosomal mutation
Chromosomal mutations are changes in chromosome structure or number that can be caused by physical or chemical agents. There are two main types of chromosomal mutations: structural changes including deletions, duplications, translocations, and inversions, and numerical changes such as aneuploidy where there is an excess or deficiency of a single chromosome. Examples of aneuploidies in humans are Down syndrome, Edward syndrome, and Patau syndrome. Chromosomal mutations can have varying effects depending on the genes involved, from no symptoms to developmental delays or medical conditions.
Mutation, Types and Causes, Chromosomal Variation in Number, Gene Mutation
- Mutation is a change in the nucleotide sequence of an organism's genome. There are several types of mutations including substitution, insertion, deletion, and frameshift.
- Mutations can be caused by natural DNA replication errors or external mutagens like radiation, chemicals, and viruses. These mutagens can directly damage DNA or produce reactive molecules that cause mutations.
- Several genetic disorders in humans are caused by chromosomal mutations, such as Down syndrome from trisomy 21, Edward's syndrome from trisomy 18, and Patau syndrome from trisomy 13. Other disorders involve the loss or gain of whole chromosomes or chromosome segments.
Mutation
- A mutation is a change in the nucleotide sequence of an organism's genome that can occur spontaneously, during DNA replication, or be induced by mutagens.
- Mutations can be inherited from a parent or occur somatically in an individual's cells. They can affect single nucleotides in genes or entire chromosomes.
- Common types of mutations include point mutations, deletions, duplications, inversions, translocations, and frameshift mutations. These genetic changes can have neutral, harmful, or beneficial effects and contribute to evolution, disease, and immune system development.
Mutation and It's types.
This is a brief overview of the Types of Mutation. I have compiled all the salient features of the Mutation and shared in this presentation, hope you guys like it.
Nucleosomes
Nucleosomes are the fundamental repeating subunits of eukaryotic chromatin that package DNA into a compact structure. They are composed of 146 base pairs of DNA wrapped around an octamer of histone proteins, resembling beads on a string. This represents the first order of DNA compaction. Higher orders of compaction involve the nucleosomes winding further to form solenoid fibers, scaffold loops, chromatids, and finally full chromosomes. Nucleosomes allow the long DNA molecules to fit within cell nuclei while also regulating genetic expression.
Mutation gene and chromosomal
Mutations are sudden changes in the genetic material of an organism that can be caused by mutagens like chemicals, radiation, or errors in DNA replication. There are two main types of mutations: gene mutations, which alter the DNA sequence of a gene, and chromosomal mutations, which involve changes to chromosomes like deletions, duplications, inversions, and translocations of DNA segments. Gene mutations can be point mutations, which substitute a single nucleotide, or frameshift mutations, which insert or delete nucleotides and alter the reading frame. Chromosomal mutations can cause diseases like Down syndrome, which results from trisomy of chromosome 21.
Point mutations ppt
1. The document discusses various types of point mutations including single nucleotide polymorphisms (SNPs) that involve changes to one nucleotide.
2. It provides examples of how mutating a single codon in an mRNA through different point mutations can result in missense, silent, or nonsense mutations.
3. Studies found that a single nucleotide polymorphism in the SLC24A5 gene, which determines whether an amino acid is alanine or threonine, accounts for 25-38% of the difference in skin color between Europeans and Africans.
Gene mutation & Chromosomal Mutations
A nonsense mutation is a point mutation that introduces a premature stop codon into the coding region of a gene. This results in only a partial protein being produced, as the stop codon signals the ribosome to terminate translation early. These truncated proteins are often nonfunctional or defective.
The lac operon regulates genes involved in lactose metabolism in E. coli. It is negatively regulated by the lac repressor protein, which binds to the operator region and blocks transcription when lactose is absent. However, in the presence of lactose or another inducer molecule, the repressor dissociates from the DNA, allowing transcription and expression of the genes required to break down and utilize lactose.
Gene regulation in prokary
Chromosome
Chromosomes are organized packages of DNA found in cells that contain genetic material. Humans normally have 46 chromosomes - 44 autosomes and 2 sex chromosomes. Each autosome has a matching homologous chromosome that it pairs with. Chromosomes are easiest to study during metaphase when they are most condensed. Key features of metaphase chromosomes include sister chromatids joined at the centromere, which divides the chromosome into arms. Telomeres cap the ends of chromosomes and help maintain stability.
281 lec28 chromosomal_mutations
This lecture discusses chromosomal mutations, which involve changes to entire chromosomes or sections of chromosomes. There are two main types of chromosomal mutations: chromosome structure mutations, which change the amount or orientation of DNA within a chromosome, and chromosome number mutations, which change the total number of chromosomes in a cell. Specific chromosome structure mutations discussed include deletions, duplications, inversions, and translocations. Chromosome number mutations can result in aneuploidy, leading to conditions like Down syndrome, Turner syndrome, and others. The lecture aims to explain the different types of chromosomal mutations and their consequences.
Genetic codon
Brief description about genetic codon and its characteristics. Degeneracy of genetic code, Open reading frame, Reading Frame etc
MUTATION,CHROMOSOMAL MUTATION &GENE MUTATION
Mutations are changes to an organism's genetic material. There are several types of mutations, including changes to DNA sequences, chromosomes, and chromosome numbers. Point mutations alter single nucleotide base pairs and can be silent, missense, or nonsense. Chromosome mutations include deletions, inversions, duplications, and translocations. Changes in chromosome number include euploidy (having normal or multiple sets) and aneuploidy (having extra or missing chromosomes). Mutations can occur spontaneously or be induced by mutagens like radiation or chemicals. They provide genetic variation and are an important source of evolution.
Structural organization of Chromosome
Chromosomes are made of chromatin fibers containing DNA and proteins. Each chromosome contains two chromatids joined at the centromere. The centromere divides the chromosome into short and long arms. During cell division, the centromere and attached kinetochore allow chromosomes to align and separate. Telomeres are repetitive DNA sequences at chromosome ends that prevent fusion and shorten with each cell division due to the end replication problem, in which DNA polymerase cannot fully replicate chromosome ends.
Topological manupilation of DNA.pptx
The topology of DNA is defined by how the two complementary single strand are intertwined
DNA in a relax state usually assumes the B-Conformation with10.6 bp per turn
DNA is subjected to bends or opening of DNA over winding or unwinding, its base pair turn changes and the DNA is subjected to stress and strain
DNA Topology also encompasses super coiling
Mutations
Mutations are changes in the nucleotide sequence of DNA that may occur in somatic or gamete cells. Most mutations are neutral or harmful, causing diseases like cancer, but some may provide benefits like improved survival. There are two classes of mutation: spontaneous mutations, which naturally occur during DNA replication, and induced mutations caused by mutagens like UV light and radiation. Different types of mutations include chromosome mutations like deletions or inversions, as well as morphological, lethal, conditional, and biochemical mutations.
Mutations and Cancer
This document discusses mutations and their relationship to cancer. It begins by defining key terms like mutation, carcinogen, oncogene, and tumor suppressor genes. It then explains how mutations can occur during DNA replication and cell division. Certain mutations in oncogenes and tumor suppressor genes can cause cancer if they result in uncontrolled cell growth and division. The document outlines the typical progression of cancer from a benign tumor to a malignant tumor that can metastasize and spread to other parts of the body. It identifies some known cancer genes and potential oncogenes and tumor suppressor genes. In closing, it notes that cancer development involves both exposure to carcinogens and genetic factors.
Spontaneous and induced mutations
Mutations are heritable changes in DNA that occur spontaneously due to errors in DNA replication or are induced by environmental mutagens like chemicals or radiation. Spontaneous mutations arise from replication errors or chemical changes to bases, while induced mutations are caused by agents that damage DNA like base analogs, alkylating agents, or radiation. Genetic mosaics occur when two or more cell populations with different genotypes arise from a single fertilized egg due to mitotic errors, causing somatic or gonadal mosaicism.
02 Chromosomes, Genes & Alleles
1. Chromosomes contain DNA and package it into a smaller size. In eukaryotes, DNA is contained in linear chromosomes while prokaryotes have circular chromosomes.
2. Humans have 23 chromosome pairs including one sex chromosome pair that determines gender. Genes are located on chromosomes and can exist in different alleles that determine traits.
3. The genotype is an individual's combination of alleles, which determines their phenotype or physical traits. Dominant alleles will be expressed over recessive alleles. Many factors can influence the relationship between genotype and phenotype.
Chromosome
Chromosomes are structures that package and organize DNA and associated proteins. In eukaryotes, DNA is wrapped around histone proteins to form chromatin, which condenses into linear or circular chromosomes. Key features of eukaryotic chromosomes include centromeres, telomeres, and repetitive sequences. Chromosomes are compacted through DNA supercoiling and packaging into nucleosomes. The structure and packaging of chromosomes allows for efficient storage and regulation of the genetic material.
Genetic mutations
Genetic mutations can occur through changes in DNA base sequences or large chromosomal alterations. There are two main types of mutations - chromosomal mutations, which involve changes in large chromosome structures like translocations or deletions, and gene mutations, such as point mutations that change single DNA bases. Point mutations can be further divided into nonsense, missense, silent, and frameshift subtypes depending on their effects on protein sequences. Frameshift mutations caused by insertion or deletion of bases can alter reading frames and change all subsequent amino acids. Suppressor mutations in tRNA molecules allow decoding of altered codons to suppress effects of mutations. Mutations provide a mechanism for genetic change and often result in beneficial new genes and functions that enable organism adaptation
Mutagenesis
Mutagenesis is a process by which the genetic information of an organism is changed, resulting in a mutation. It may occur spontaneously in nature, or as a result of exposure to mutagens. It can also be
achieved experimentally using laboratory procedures.
In nature mutagenesis can lead to cancer and
various heritable diseases, but it is also a driving force of evolution.
Mutations powerpoint
The document discusses different types of mutations that can occur in DNA, including changes in the nucleotide sequence that may happen in somatic or germ cells. Mutations can be caused spontaneously during DNA replication or DNA damage from environmental factors like UV radiation. Types of mutations include point mutations, deletions, inversions, translocations, duplications, and aneuploidy. These genetic changes can have varying effects from being neutral to causing genetic disorders or cancer.
Cell cycle regulation ppt
The cell cycle involves an interphase of growth and DNA replication followed by mitosis, where the cell divides. The cell cycle is regulated by cyclins and cyclin-dependent kinases (CDKs) that drive progression between phases. CDK activity increases upon binding to cyclins and decreases when cyclins are degraded. Growth hormones like auxins and cytokinins promote cell cycle progression by increasing cyclin and CDK expression, while abscisic acid inhibits the cell cycle. Together, these regulatory mechanisms precisely control cell division.
Presentation on Structure of Chromosomes
Chromosomes are organized structures found in cells that contain DNA and proteins. Each chromosome is made of DNA coiled around histone proteins. Chromosomes are located in the cell nucleus and are passed from parents to offspring. They are named because they can be stained with dyes. In most organisms, chromosomes occur in homologous pairs. The human body contains 23 pairs of chromosomes. Chromosomes condense and can be observed during cell division. They contain duplicated copies called sister chromatids joined at the centromere. Chemically, chromosomes contain DNA, RNA, histone and non-histone proteins, and metal ions. According to the folded fiber model, each chromosome consists of a single DNA molecule wrapped around proteins and folded into a
Gene Mutation
1. Gene mutations are alterations in DNA sequences that can change the genetic code and potentially cause genetic diseases.
2. The most common type of gene mutation is point mutations, which change a single DNA nucleotide and can be silent, missense, or nonsense.
3. Examples of diseases caused by gene mutations include sickle cell anemia from a missense mutation, various cancers from oncogene and tumor suppressor gene mutations, cystic fibrosis from a deletion mutation, and myotonic dystrophy and fragile X syndrome from trinucleotide repeat expansions.
Gene mutation
Gene mutations can occur in several ways:
1) Substitutions exchange one DNA base for another and may alter the resulting protein. Sickle cell anemia is caused by a substitution.
2) Insertions add extra DNA bases. Huntington's disease results from repetitive CAG insertions.
3) Deletions remove sections of DNA. Cystic fibrosis stems from a deletion in the CFTR gene.
4) Frameshifts alter gene parsing and produce truncated proteins. Tay-Sachs disease arises from a frameshift mutation in the HEXA gene.
Structure of DNA
The present slide describes the DNA Structures and the components of the DNA along with the illustrative structures.
Sanis-Nutrisport 2014 Nutrizione, Integrazione e Sport
The document describes a study that tested a functional food formulation called Nutrimonium in athletes participating in an ultra-marathon race. 47 athletes took Nutrimonium for one month prior to the race and during the race. 24 athletes reported benefits such as more energy and fewer gastrointestinal issues. Only 1 athlete taking Nutrimonium dropped out due to GI problems, compared to 6 athletes in the control group. The results suggest Nutrimonium helped maintain intestinal barrier function and reduced GI side effects from intense exercise.
Formulation of Food Products, Pharmaceuticals, Adhesives, Resins, Gums, Waxes...
Formulation is a key process in the overall life cycle so that products are delivered that is of the right quality, at a competitive cost, and is made available within the specified time scale. A formula is an entity constructed using the symbols and formation rules of a given logical language. In science, a specific formula is a concise way of expressing information symbolically as in a mathematical or chemical formula. The chemical formula identifies each constituent element by its chemical symbol and indicates the number of atoms of each element found in each discrete molecule of that compound.
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http://goo.gl/S88Piw
Contact us:
Niir Project Consultancy Services
Email: npcs.ei@gmail.com , info@entrepreneurindia.co
Tel: +91-11-23843955, 23845654, 23845886, 8800733955
Mobile: +91-9811043595
Website : http://www.niir.org , http://www.entrepreneurindia.co
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Adhesive formulation book, Adhesive Formulation, Adhesives formulary book, Adhesives with their formulas, Adhesives with their formulas, Beverages with their formulas, Book of adhesives with their formulaes, Chemical formulary, Disinfectant Formulation, Disinfectants with their formulas, Essential Oils, Essentials of Product Formulation, Exterminators with their formulas, Flavours Extracts with their formulas, Food Formulation, Food Product formulation, Food Products Formulary, Food Products with their formulas, Foods Adulterants with their formulas, Foods with their formulas, Formulary book, Formulary of Adhesives, Formulary of adhesives, Formulary of Beverages, Formulary of Disinfectants, Formulary of Exterminators, Formulary of Flavours Extracts, Formulary of Food Products, Formulary of Foods Adulterants, Formulary of Foods, Formulary of Gums, Formulary of Insecticides, Formulary of Pharmaceuticals, Formulary of Resins, Formulary of Waxes, Formulas book, Formulation - Food Processing, Formulation book, Formulation for the pharmaceutical Industry, Formulation of Adhesives, Formulation of Beverages, Formulation of Disinfectants, Formulation of Exterminators, Formulation of Flavours Extracts, Formulation of Food Products, Formulation of Foods Adulterants, Formulation of Foods, Formulation of Gums, Formulation of Insecticides, Formulation of Pharmaceuticals, Formulation of Resins, Formulation of Waxes, Gums with their formulas, Insecticides with their formulas, Manufacture of Buttermilk from Skimmed Milk, Manufacturing Cream Cheese (Hot Process), pharma formulations, Pharmaceutical Drug Formulation, Pharmaceutical formulation book, Pharmaceutical formulation, Pharmaceuticals with their formulas, Pharmacy formularies, Product formulation in pharmacy manufacturing, Resins with their formulas, Wax Emulsions – Formulation, Waxes and Wax Emulsions Formulation Technologies, Waxes with their formulas
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Gene mutation & Chromosomal Mutations
A nonsense mutation is a point mutation that introduces a premature stop codon into the coding region of a gene. This results in only a partial protein being produced, as the stop codon signals the ribosome to terminate translation early. These truncated proteins are often nonfunctional or defective.
The lac operon regulates genes involved in lactose metabolism in E. coli. It is negatively regulated by the lac repressor protein, which binds to the operator region and blocks transcription when lactose is absent. However, in the presence of lactose or another inducer molecule, the repressor dissociates from the DNA, allowing transcription and expression of the genes required to break down and utilize lactose.
Gene regulation in prokary
Chromosome
Chromosomes are organized packages of DNA found in cells that contain genetic material. Humans normally have 46 chromosomes - 44 autosomes and 2 sex chromosomes. Each autosome has a matching homologous chromosome that it pairs with. Chromosomes are easiest to study during metaphase when they are most condensed. Key features of metaphase chromosomes include sister chromatids joined at the centromere, which divides the chromosome into arms. Telomeres cap the ends of chromosomes and help maintain stability.
281 lec28 chromosomal_mutations
This lecture discusses chromosomal mutations, which involve changes to entire chromosomes or sections of chromosomes. There are two main types of chromosomal mutations: chromosome structure mutations, which change the amount or orientation of DNA within a chromosome, and chromosome number mutations, which change the total number of chromosomes in a cell. Specific chromosome structure mutations discussed include deletions, duplications, inversions, and translocations. Chromosome number mutations can result in aneuploidy, leading to conditions like Down syndrome, Turner syndrome, and others. The lecture aims to explain the different types of chromosomal mutations and their consequences.
Genetic codon
Brief description about genetic codon and its characteristics. Degeneracy of genetic code, Open reading frame, Reading Frame etc
MUTATION,CHROMOSOMAL MUTATION &GENE MUTATION
Mutations are changes to an organism's genetic material. There are several types of mutations, including changes to DNA sequences, chromosomes, and chromosome numbers. Point mutations alter single nucleotide base pairs and can be silent, missense, or nonsense. Chromosome mutations include deletions, inversions, duplications, and translocations. Changes in chromosome number include euploidy (having normal or multiple sets) and aneuploidy (having extra or missing chromosomes). Mutations can occur spontaneously or be induced by mutagens like radiation or chemicals. They provide genetic variation and are an important source of evolution.
Structural organization of Chromosome
Chromosomes are made of chromatin fibers containing DNA and proteins. Each chromosome contains two chromatids joined at the centromere. The centromere divides the chromosome into short and long arms. During cell division, the centromere and attached kinetochore allow chromosomes to align and separate. Telomeres are repetitive DNA sequences at chromosome ends that prevent fusion and shorten with each cell division due to the end replication problem, in which DNA polymerase cannot fully replicate chromosome ends.
Topological manupilation of DNA.pptx
The topology of DNA is defined by how the two complementary single strand are intertwined
DNA in a relax state usually assumes the B-Conformation with10.6 bp per turn
DNA is subjected to bends or opening of DNA over winding or unwinding, its base pair turn changes and the DNA is subjected to stress and strain
DNA Topology also encompasses super coiling
Mutations
Mutations are changes in the nucleotide sequence of DNA that may occur in somatic or gamete cells. Most mutations are neutral or harmful, causing diseases like cancer, but some may provide benefits like improved survival. There are two classes of mutation: spontaneous mutations, which naturally occur during DNA replication, and induced mutations caused by mutagens like UV light and radiation. Different types of mutations include chromosome mutations like deletions or inversions, as well as morphological, lethal, conditional, and biochemical mutations.
Mutations and Cancer
This document discusses mutations and their relationship to cancer. It begins by defining key terms like mutation, carcinogen, oncogene, and tumor suppressor genes. It then explains how mutations can occur during DNA replication and cell division. Certain mutations in oncogenes and tumor suppressor genes can cause cancer if they result in uncontrolled cell growth and division. The document outlines the typical progression of cancer from a benign tumor to a malignant tumor that can metastasize and spread to other parts of the body. It identifies some known cancer genes and potential oncogenes and tumor suppressor genes. In closing, it notes that cancer development involves both exposure to carcinogens and genetic factors.
Spontaneous and induced mutations
Mutations are heritable changes in DNA that occur spontaneously due to errors in DNA replication or are induced by environmental mutagens like chemicals or radiation. Spontaneous mutations arise from replication errors or chemical changes to bases, while induced mutations are caused by agents that damage DNA like base analogs, alkylating agents, or radiation. Genetic mosaics occur when two or more cell populations with different genotypes arise from a single fertilized egg due to mitotic errors, causing somatic or gonadal mosaicism.
02 Chromosomes, Genes & Alleles
1. Chromosomes contain DNA and package it into a smaller size. In eukaryotes, DNA is contained in linear chromosomes while prokaryotes have circular chromosomes.
2. Humans have 23 chromosome pairs including one sex chromosome pair that determines gender. Genes are located on chromosomes and can exist in different alleles that determine traits.
3. The genotype is an individual's combination of alleles, which determines their phenotype or physical traits. Dominant alleles will be expressed over recessive alleles. Many factors can influence the relationship between genotype and phenotype.
Chromosome
Chromosomes are structures that package and organize DNA and associated proteins. In eukaryotes, DNA is wrapped around histone proteins to form chromatin, which condenses into linear or circular chromosomes. Key features of eukaryotic chromosomes include centromeres, telomeres, and repetitive sequences. Chromosomes are compacted through DNA supercoiling and packaging into nucleosomes. The structure and packaging of chromosomes allows for efficient storage and regulation of the genetic material.
Genetic mutations
Genetic mutations can occur through changes in DNA base sequences or large chromosomal alterations. There are two main types of mutations - chromosomal mutations, which involve changes in large chromosome structures like translocations or deletions, and gene mutations, such as point mutations that change single DNA bases. Point mutations can be further divided into nonsense, missense, silent, and frameshift subtypes depending on their effects on protein sequences. Frameshift mutations caused by insertion or deletion of bases can alter reading frames and change all subsequent amino acids. Suppressor mutations in tRNA molecules allow decoding of altered codons to suppress effects of mutations. Mutations provide a mechanism for genetic change and often result in beneficial new genes and functions that enable organism adaptation
Mutagenesis
Mutagenesis is a process by which the genetic information of an organism is changed, resulting in a mutation. It may occur spontaneously in nature, or as a result of exposure to mutagens. It can also be
achieved experimentally using laboratory procedures.
In nature mutagenesis can lead to cancer and
various heritable diseases, but it is also a driving force of evolution.
Mutations powerpoint
The document discusses different types of mutations that can occur in DNA, including changes in the nucleotide sequence that may happen in somatic or germ cells. Mutations can be caused spontaneously during DNA replication or DNA damage from environmental factors like UV radiation. Types of mutations include point mutations, deletions, inversions, translocations, duplications, and aneuploidy. These genetic changes can have varying effects from being neutral to causing genetic disorders or cancer.
Cell cycle regulation ppt
The cell cycle involves an interphase of growth and DNA replication followed by mitosis, where the cell divides. The cell cycle is regulated by cyclins and cyclin-dependent kinases (CDKs) that drive progression between phases. CDK activity increases upon binding to cyclins and decreases when cyclins are degraded. Growth hormones like auxins and cytokinins promote cell cycle progression by increasing cyclin and CDK expression, while abscisic acid inhibits the cell cycle. Together, these regulatory mechanisms precisely control cell division.
Presentation on Structure of Chromosomes
Chromosomes are organized structures found in cells that contain DNA and proteins. Each chromosome is made of DNA coiled around histone proteins. Chromosomes are located in the cell nucleus and are passed from parents to offspring. They are named because they can be stained with dyes. In most organisms, chromosomes occur in homologous pairs. The human body contains 23 pairs of chromosomes. Chromosomes condense and can be observed during cell division. They contain duplicated copies called sister chromatids joined at the centromere. Chemically, chromosomes contain DNA, RNA, histone and non-histone proteins, and metal ions. According to the folded fiber model, each chromosome consists of a single DNA molecule wrapped around proteins and folded into a
Gene Mutation
1. Gene mutations are alterations in DNA sequences that can change the genetic code and potentially cause genetic diseases.
2. The most common type of gene mutation is point mutations, which change a single DNA nucleotide and can be silent, missense, or nonsense.
3. Examples of diseases caused by gene mutations include sickle cell anemia from a missense mutation, various cancers from oncogene and tumor suppressor gene mutations, cystic fibrosis from a deletion mutation, and myotonic dystrophy and fragile X syndrome from trinucleotide repeat expansions.
Gene mutation
Gene mutations can occur in several ways:
1) Substitutions exchange one DNA base for another and may alter the resulting protein. Sickle cell anemia is caused by a substitution.
2) Insertions add extra DNA bases. Huntington's disease results from repetitive CAG insertions.
3) Deletions remove sections of DNA. Cystic fibrosis stems from a deletion in the CFTR gene.
4) Frameshifts alter gene parsing and produce truncated proteins. Tay-Sachs disease arises from a frameshift mutation in the HEXA gene.
Structure of DNA
The present slide describes the DNA Structures and the components of the DNA along with the illustrative structures.
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Sanis-Nutrisport 2014 Nutrizione, Integrazione e Sport
The document describes a study that tested a functional food formulation called Nutrimonium in athletes participating in an ultra-marathon race. 47 athletes took Nutrimonium for one month prior to the race and during the race. 24 athletes reported benefits such as more energy and fewer gastrointestinal issues. Only 1 athlete taking Nutrimonium dropped out due to GI problems, compared to 6 athletes in the control group. The results suggest Nutrimonium helped maintain intestinal barrier function and reduced GI side effects from intense exercise.
Formulation of Food Products, Pharmaceuticals, Adhesives, Resins, Gums, Waxes...
Formulation is a key process in the overall life cycle so that products are delivered that is of the right quality, at a competitive cost, and is made available within the specified time scale. A formula is an entity constructed using the symbols and formation rules of a given logical language. In science, a specific formula is a concise way of expressing information symbolically as in a mathematical or chemical formula. The chemical formula identifies each constituent element by its chemical symbol and indicates the number of atoms of each element found in each discrete molecule of that compound.
See more
http://goo.gl/poQBHt
http://goo.gl/S88Piw
Contact us:
Niir Project Consultancy Services
Email: npcs.ei@gmail.com , info@entrepreneurindia.co
Tel: +91-11-23843955, 23845654, 23845886, 8800733955
Mobile: +91-9811043595
Website : http://www.niir.org , http://www.entrepreneurindia.co
Tags
Adhesive formulation book, Adhesive Formulation, Adhesives formulary book, Adhesives with their formulas, Adhesives with their formulas, Beverages with their formulas, Book of adhesives with their formulaes, Chemical formulary, Disinfectant Formulation, Disinfectants with their formulas, Essential Oils, Essentials of Product Formulation, Exterminators with their formulas, Flavours Extracts with their formulas, Food Formulation, Food Product formulation, Food Products Formulary, Food Products with their formulas, Foods Adulterants with their formulas, Foods with their formulas, Formulary book, Formulary of Adhesives, Formulary of adhesives, Formulary of Beverages, Formulary of Disinfectants, Formulary of Exterminators, Formulary of Flavours Extracts, Formulary of Food Products, Formulary of Foods Adulterants, Formulary of Foods, Formulary of Gums, Formulary of Insecticides, Formulary of Pharmaceuticals, Formulary of Resins, Formulary of Waxes, Formulas book, Formulation - Food Processing, Formulation book, Formulation for the pharmaceutical Industry, Formulation of Adhesives, Formulation of Beverages, Formulation of Disinfectants, Formulation of Exterminators, Formulation of Flavours Extracts, Formulation of Food Products, Formulation of Foods Adulterants, Formulation of Foods, Formulation of Gums, Formulation of Insecticides, Formulation of Pharmaceuticals, Formulation of Resins, Formulation of Waxes, Gums with their formulas, Insecticides with their formulas, Manufacture of Buttermilk from Skimmed Milk, Manufacturing Cream Cheese (Hot Process), pharma formulations, Pharmaceutical Drug Formulation, Pharmaceutical formulation book, Pharmaceutical formulation, Pharmaceuticals with their formulas, Pharmacy formularies, Product formulation in pharmacy manufacturing, Resins with their formulas, Wax Emulsions – Formulation, Waxes and Wax Emulsions Formulation Technologies, Waxes with their formulas
Strategic formulation
This document discusses functional strategy and its various aspects. It covers the different functional areas a company must develop strategies for, including marketing, finance, research and development, operations, and purchasing. For each function, it provides details on the types of strategies that can be employed and how they contribute to achieving overall corporate objectives and gaining a competitive advantage.
Formulation of Functional Strategies
This document discusses the formulation of functional strategies within an organization. It covers the formulation of marketing, financial, production, logistics, research and development, and human resource strategies. For each functional area, key considerations for strategy formulation are provided, such as determining the optimal capital structure, selecting distribution channels, assessing staffing needs, and aligning HR practices with the overall corporate strategy. The document emphasizes that functional strategies must support and help implement the overall business strategy.
Compounding, Formulation and Production of Perfumes, Flavors and Fragrances
Compounding, Formulation and Production of Perfumes, Flavors and Fragrances (Flavours for Food, Fruit and Vegetable, Dairy, Bakery, Confectionery, Beverage, Meat, Wine, Soap Perfumery, Fancy Perfumes, Flower Perfumes, Sophisticated or Fantasy Perfumes, Fragrances Woody, Fragrances Floral and Fruity, Scents, Attars)
Flavors and Fragrances (F&F) are the essential ingredients that lend taste and smell, respectively, to food and personal or home care products. Without these, all the products that we use such as toffees, chips, toothpastes, soaps and shampoos, would be tasteless or odorless, boring, functional products.Flavors and fragrances are integral components of packaged foods and other consumer goods.
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Functional food
Functional foods are foods that provide health benefits beyond basic nutrition. They contain ingredients that have been manipulated or modified to enhance their contribution to a healthy diet. Consumer interest in the relationship between diet and health has increased, with people recognizing they can help reduce illness risks through a healthy lifestyle including diet. Examples of functional foods worldwide include foods enriched with vitamins, minerals, fibers, and other bioactive components. Functional foods have potential to improve health and prevent diseases when consumed as part of a balanced diet and lifestyle.
Functional Foods: Their Role & Opportunities
The document discusses functional foods, their role and opportunities. It provides an overview of the Institute of Food Technologists (IFT), what functional foods are, why they are of interest, their history and the large business they represent. It discusses trends in functional foods and research, regulatory landscape and future outlook. The presentation aims to outline the topic of functional foods and opportunities within the field.
Functional food
This document discusses functional foods and nutraceuticals. It defines functional foods as foods that provide additional health benefits beyond basic nutrition. Cereals, legumes, vegetables, fruits, and probiotics are described as examples of functional foods. Cereals provide fiber, vitamins, minerals and antioxidants that can help prevent cancer, heart disease and other conditions. Legumes contain proteins, fibers and phytochemicals like isoflavones and saponins that may lower cholesterol and blood glucose. Vegetables and fruits are rich in antioxidants, vitamins and minerals that promote health. Probiotics in foods like yogurt contain beneficial bacteria and may help lower blood pressure and reduce risk of obesity and other diseases.
Development of Nutraceuticals & functional foods
“Nutraceuticals” & “Health food” shops has grown enormously, fostered by wide media coverage of their benefits. There has been a boom in their sales as patients rush to self-medicate, either in the hope that these products will be effective in treating diseases unsatisfactorily treated with pharmaceuticals, or that the adverse effects of some pharmaceuticals may be avoided.
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Similar to Mutation
Mutation 140507105306-phpapp01
Mutation refers to changes in the nucleotide sequence of an organism's genome. There are several types of mutations, including substitutions, insertions, deletions, inversions, and frameshifts. Mutations can be inherited from parents or acquired during an individual's lifetime from environmental mutagens like radiation, chemicals, or viruses. Common genetic disorders caused by mutations include Down syndrome, Edwards syndrome, Patau syndrome, and others involving aneuploidies or abnormalities of specific chromosomes.
mutations.pptx
This document discusses spontaneous and induced mutations, as well as genetic mosaics. It defines mutations as heritable changes in DNA that are important for genetics studies. Spontaneous mutations occur naturally through errors in DNA replication or chemical changes. Induced mutations are caused by environmental agents like radiation or chemicals. Genetic mosaics occur when cells in an individual have different genotypes due to mutations arising during early development. This can result in conditions like intersex traits or milder forms of genetic disorders.
Mutation Repair and DNA Replication.pptx
In this Presentation Chapter 7 & 8 from the book Advanced Molecular Biology are discussed. Focus has been given to the mutation, its types, mutation repair, Different Repairing mechanisms and DNA Replication is explained with details.
Chromosomal mutation and gene mutation
Chromosomal and gene mutations can cause human diseases and defects. Chromosomal mutations include structural changes like deletions, duplications, translocations, and inversions as well as changes in chromosome number like aneuploidy and euploidy. Down syndrome results from trisomy 21 while Turner syndrome is caused by monosomy X. Klinefelter syndrome involves an extra X chromosome. Gene mutations include point mutations, frameshift mutations, and base substitutions. Point mutations can be silent, missense, or nonsense. Frameshift mutations alter the reading frame. Sickle cell anemia is caused by a single base change altering hemoglobin.
Mutation
This document defines gene mutations and describes different types of mutations such as substitutions, insertions, inversions, deletions, and frameshifts. It then discusses how common mutations are, what causes mutations to occur both naturally and through mutagens, and provides examples of genetic disorders caused by mutations in humans such as Down syndrome, Edward's syndrome, Patau syndrome, and others involving changes in chromosome number or structure.
Mutations
Mutations are changes in genetic code that can occur due to mistakes when DNA is copied or due to environmental factors like UV light and cigarette smoke. There are two main types of mutations: spontaneous mutations that arise from DNA replication errors, and induced mutations caused by external factors. Mutations can be gene mutations, which affect a single gene, like point mutations and frameshift mutations, or chromosomal mutations like deletions, duplications, inversions, insertions, translocations, and non-disjunction, which involve changes to whole chromosomes. Many genetic disorders are caused by chromosomal mutations, such as Down's syndrome, Klinefelter's syndrome, and Turner's syndrome. Genetic disorders can be diagnosed through fetal cell analysis
Diseases caused by dna damage
DNA damage can result from metabolic processes, hydrolysis, or exogenous sources and can lead to various human diseases if left unrepaired. Defects in the cellular response to repair DNA damage can cause cancer, inflammation, cell aging, and neurodegeneration. Neurodegeneration involves the death of neurons and is associated with diseases like Huntington's, Parkinson's, and Alzheimer's. Neurons are post-mitotic cells that are susceptible to DNA damage from endogenous and exogenous agents. If the damage is not repaired, unrepaired DNA accumulates in neurons and can cause cell cycle reentry and apoptosis, leading to neurodegeneration. Chronic inflammation from infection or other sources can also cause DNA damage through reactive oxygen species
Molecular mechanism of spontaneous mutations
Spontaneous mutations arise from errors in DNA replication and spontaneous DNA damage. Errors in replication can result in base substitutions if an incorrect base pairs with another. Spontaneous DNA damage includes depurination, in which bases are lost from DNA, and deamination of cytosine to uracil. Large deletions and duplications can also occur spontaneously. These replication errors and lesions generate the genetic variation that allows organisms to evolve in response to environmental changes. Spontaneous mutations are the ultimate source of natural genetic variation seen within populations and are responsible for certain human genetic diseases when they disrupt important genes.
Spontaneous mutation
This document discusses spontaneous mutation, which are random errors that occur during DNA replication without external triggers. It defines key terms like mutagenesis and mutants. The main causes of spontaneous mutation are errors during DNA replication like base pair substitutions, tautomerism, and deletions or insertions. Spontaneous lesions from depurination, deamination, and oxidative damage can also induce mutations. Transposons moving to new DNA locations cause insertion mutations. Examples of diseases caused by spontaneous mutations include Kearns-Sayre syndrome from mitochondrial DNA deletions and Fragile X syndrome from trinucleotide repeat expansions.
Mutation
Mutations are permanent changes to an organism's DNA sequence that can arise due to mistakes during DNA replication or damage from environmental factors. There are two main types of mutations - chromosomal mutations, which involve changes in chromosome structure like deletions, duplications, inversions or translocations, and gene mutations, such as point mutations or frameshift mutations. Point mutations include substitutions, insertions or deletions of single nucleotide bases, while frameshift mutations are caused by insertions or deletions of multiple nucleotides. Chromosomal mutations can lead to conditions like Down syndrome, Turner syndrome, or duplication syndromes.
Radiation biology
Radiobiology (also known as radiation biology, and uncommonly as actinobiology) is a field of clinical and basic medical sciences that involves the study of the action of ionizing radiation on living things, especially health effects of radiation.
The action is very complex, involving physics, chemistry, and biology
– Different types of ionizing radiation
– Energy absorption at the atomic and molecular level
leads to biological damage
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Mutation
This document discusses different types of mutations including gene mutations, chromosome mutations, and mutations caused by changes in ploidy level. It describes various chromosomal aberrations such as deletions, duplications, inversions, and translocations. It also discusses the causes of mutations, including radiation, chemicals, base analogs, and changes to DNA structure. Mutations can be induced artificially using mutagenic agents like radiation or chemicals to increase the mutation rate above spontaneous levels. Induced mutations have been observed in fish through X-irradiation and chemical treatment of gametes.
Mutation i 2018
Cell Biology and genetics paper - Mutation a basic touch to b.sc students with examples. DNA, genome, gene level mutation and chromosome level with examples. Touched some of the mutation types.
Mutation and Assay of Mutagenesis
Mutation and Adoptation
● Types of Mutation
● Factor causing Mutation
● Mutagenesis: Spontaneous Mutagenesis, Induced Mutagenesis
● Ames Test
Mutegenesis
This document discusses mutagenesis, which is the process by which DNA changes, resulting in gene mutations. Mutations can be caused by DNA replication errors, DNA damage from mutagens like radiation or chemicals, or molecular genetic techniques. There are different types of mutations that can result in silent, missense, nonsense, or frameshift changes to proteins. Mutagenesis drives evolution by creating genetic variation but can also cause diseases. Common mutagens include radiation, UV light, chemicals, viruses and bacteria. The document provides examples of different mutations and diseases they can cause, like sickle cell disease and cystic fibrosis.
DNA Damage and DNA Repair- Dr. Sonia Angeline
DNA is constantly damaged by environmental and metabolic factors. The three main types of DNA damage are oxidative damage from reactive oxygen species, alkylation of bases by environmental chemicals, and hydrolytic deamination of bases. Cells have multiple DNA repair pathways to fix different types of lesions. These include base excision repair for single base changes, nucleotide excision repair for distortions to the DNA structure, mismatch repair for replication errors, and double-strand break repair using non-homologous end joining or homologous recombination. The SOS response is also activated in bacteria to induce DNA repair genes in response to damage.
Mutation bsc
1. Mutation is a permanent alteration in the DNA sequence that makes up a gene or chromosome. There are several types of mutations including point mutations, frameshift mutations, deletions, duplications, inversions, and translocations.
2. Point mutations involve a change to a single nucleotide base, such as a substitution, insertion or deletion. Frameshift mutations occur when multiple nucleotides are inserted or deleted, changing the reading frame.
3. Mutations can be caused by errors during DNA replication or by environmental mutagens like radiation or chemicals. They can occur in somatic cells or germ cells and be transmitted to offspring. Most mutations are harmful but some can provide benefits for adaptation or evolution.
Induced and spontaneous mutation
Mutations can be caused by natural processes during DNA replication like spontaneous errors or by environmental agents. Spontaneous mutations occur due to base pair wobble or chemical changes like depurination. The rate is 10-4 to 10-6 per gene per generation in eukaryotes. Environmental agents or mutagens that can induce mutations include base analogs, alkylating agents, deamination, hydroxylamine, reactive oxygen, intercalating agents, and radiation. These mutagens cause changes by incorporating inappropriate bases, adding alkyl groups, deaminating bases, adding hydroxyl groups, oxidative damage, distorting DNA structure, and breaking bonds respectively.
Mutation
Mutations are changes in DNA sequences that can occur due to errors in DNA replication or exposure to mutagens. There are several types of mutations including point mutations, which involve a single nucleotide change, and chromosomal mutations, which involve changes in larger chromosome structures. Point mutations can be further classified as transitions, transversions, frameshifts, insertions, and deletions. Chromosomal mutations include aneuploidy, which is an abnormal number of chromosomes, and polyploidy, which involves multiple sets of chromosomes. Mutations can be beneficial by creating genetic variation for evolution, but can also cause genetic disorders. Hugo de Vries originally coined the term mutation in the late 19th century and early studies helped uncover the mechanisms
types of Mutation
Mutations are heritable changes in an organism's genetic material. They arise from errors in DNA replication or distribution and can cause sudden changes in characteristics. There are two main types of mutations - gene mutations, which alter the sequence of a single gene, and chromosomal mutations, which involve changes in chromosome number or structure. Point mutations specifically change a single DNA nucleotide, and can be further classified as transitions, transversions, nonsense, missense, or silent mutations depending on their effects. Frameshift mutations insert or delete DNA nucleotides, altering the reading frame and resulting in abnormal proteins. Many diseases like cystic fibrosis, sickle cell anemia, and cancer are caused by specific point or frameshift mutations.
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The debris of the ‘last major merger’ is dynamically young
The Milky Way’s (MW) inner stellar halo contains an [Fe/H]-rich component with highly eccentric orbits, often referred to as the
‘last major merger.’ Hypotheses for the origin of this component include Gaia-Sausage/Enceladus (GSE), where the progenitor
collided with the MW proto-disc 8–11 Gyr ago, and the Virgo Radial Merger (VRM), where the progenitor collided with the
MW disc within the last 3 Gyr. These two scenarios make different predictions about observable structure in local phase space,
because the morphology of debris depends on how long it has had to phase mix. The recently identified phase-space folds in Gaia
DR3 have positive caustic velocities, making them fundamentally different than the phase-mixed chevrons found in simulations
at late times. Roughly 20 per cent of the stars in the prograde local stellar halo are associated with the observed caustics. Based
on a simple phase-mixing model, the observed number of caustics are consistent with a merger that occurred 1–2 Gyr ago.
We also compare the observed phase-space distribution to FIRE-2 Latte simulations of GSE-like mergers, using a quantitative
measurement of phase mixing (2D causticality). The observed local phase-space distribution best matches the simulated data
1–2 Gyr after collision, and certainly not later than 3 Gyr. This is further evidence that the progenitor of the ‘last major merger’
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Authoring a personal GPT for your research and practice: How we created the Q...
Thematic analysis in qualitative research is a time-consuming and systematic task, typically done using teams. Team members must ground their activities on common understandings of the major concepts underlying the thematic analysis, and define criteria for its development. However, conceptual misunderstandings, equivocations, and lack of adherence to criteria are challenges to the quality and speed of this process. Given the distributed and uncertain nature of this process, we wondered if the tasks in thematic analysis could be supported by readily available artificial intelligence chatbots. Our early efforts point to potential benefits: not just saving time in the coding process but better adherence to criteria and grounding, by increasing triangulation between humans and artificial intelligence. This tutorial will provide a description and demonstration of the process we followed, as two academic researchers, to develop a custom ChatGPT to assist with qualitative coding in the thematic data analysis process of immersive learning accounts in a survey of the academic literature: QUAL-E Immersive Learning Thematic Analysis Helper. In the hands-on time, participants will try out QUAL-E and develop their ideas for their own qualitative coding ChatGPT. Participants that have the paid ChatGPT Plus subscription can create a draft of their assistants. The organizers will provide course materials and slide deck that participants will be able to utilize to continue development of their custom GPT. The paid subscription to ChatGPT Plus is not required to participate in this workshop, just for trying out personal GPTs during it.
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among stars.
Aims. In this paper we present the Extended Westerlund 1 and 2 Open Clusters Survey (EWOCS) project, which aims to investigate
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s
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Deep Software Variability and Frictionless ReproducibilityUniversity of Rennes, INSA Rennes, Inria/IRISA, CNRS
The ability to recreate computational results with minimal effort and actionable metrics provides a solid foundation for scientific research and software development. When people can replicate an analysis at the touch of a button using open-source software, open data, and methods to assess and compare proposals, it significantly eases verification of results, engagement with a diverse range of contributors, and progress. However, we have yet to fully achieve this; there are still many sociotechnical frictions.
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Our observation is that multiple layers — hardware, operating systems, third-party libraries, software versions, input data, compile-time options, and parameters — are subject to variability that exacerbates frictions but is also essential for achieving robust, generalizable results and fostering innovation. I will first review the literature, providing evidence of how the complex variability interactions across these layers affect qualitative and quantitative software properties, thereby complicating the reproduction and replication of scientific studies in various fields.
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Equivariant neural networks and representation theory
Or: Beyond linear.
Abstract: Equivariant neural networks are neural networks that incorporate symmetries. The nonlinear activation functions in these networks result in interesting nonlinear equivariant maps between simple representations, and motivate the key player of this talk: piecewise linear representation theory.
Disclaimer: No one is perfect, so please mind that there might be mistakes and typos.
dtubbenhauer@gmail.com
Corrected slides: dtubbenhauer.com/talks.html
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Mutation
- 1. Presented by :- Rajesh Kumar(152122028) Raju Kumar Singh(152122029) 1
- 2. 2
- 3. Mutation Mutation is a change of the nucleotide sequence of the genome of an organism, virus, chromosomal DNA and other genetic element. 3 • Mutations may be harmful. • Mutations may be beneficial. • Mutations may have no effect on the organism.
- 4. Types of Mutation • Substitution • Insertion • Inversion • Deletion 4
- 5. Substitution A substitution is a mutation that exchanges one base for another (i.e., a change in a single "chemical letter" such as switching an A to a G). 5
- 6. Insertion Insertions are mutations in which extra base pairs are inserted into a new place in the DNA. 6
- 7. Inversion • An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. • An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. 7
- 8. 8
- 9. Deletions are mutations in which a section of DNA is lost, or deleted during DNA replication. Deletion 9
- 10. A mutation can occur spontaneously or induced by chemicals or radiations. Spontaneous mutations on the molecular level include: Tautomerism - A base is changed by the repositioning of a hydrogen atom. Causes of Mutation Spontaneous Mutation 10
- 11. 11
- 12. Depurination - Loss of a purine base (A or G). 12
- 13. 13 Deamination - is the removal of an amine group from a nucleotide. Changes a normal base to an atypical base; C → U,
- 14. 14 Replacement of a Purine base with another Purine or pyrimidines with another pyrimidines. Replacement of a purine with pyrimidines or vice versa. Transition - Transversions -
- 15. 15
- 16. Induced mutation are those resulting from exposure of organism to mutagenic agents such as ionizing radiation UV light or various chemical. Induced mutations on the molecular level can be caused by Chemicals- •Hydroxylamine NH2OH •Base analog i.e., Brdu •Alkylating agents •DNA cross linkers •Oxidative Damage •Nitrous Acids Induced Mutation 16
- 17. 17
- 18. e.g., X-rays, UV Ionizing radiation breaks covalent bonds including those in DNA and is the leading cause of chromosome mutations. Ionizing radiation has a cumulative effect and kills cells at high doses. UV (254-260 nm) causes purines and pyrimidines to form abnormal dimer bonds and bulges in the DNA strands. Radiation 18
- 19. 19
- 21. Down Syndrome • Also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. • It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. • The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8 or 9 year old child. 21
- 22. 22
- 23. Edward’s syndrome • Also known as Trisomy 18 [T18] is a chromosomal disorder caused by the presence of all or part of an extra 18th chromosome. • Named after John Hilton Edwards, who first described the syndrome in 1960. • Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers. 23
- 24. 24
- 25. Patau syndrome • It is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. • The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. 25
- 26. 26
- 27. We are very thankful to Dr. Lal Mohan Kundu Sir for giving us this opportunity. 27