Mutation
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Mutations are changes in the nucleotide sequence of DNA that can occur in somatic or germ cells. Most mutations are neutral, but some can be harmful or beneficial. There are several types of mutations including point mutations, insertions, deletions, and frameshift mutations. Point mutations involve a single nucleotide change and can cause diseases like sickle cell anemia. Frameshift mutations shift the reading frame and often prevent proteins from functioning properly. Mutations can have different effects depending on whether they are silent, cause an amino acid substitution, or result in a premature stop codon.
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Mutation
The slide include contents:
Mutation-Definition
Levels of Mutation
Features of Mutation
Types of Mutation
Mutations based on functional effects of the change
Genetic disorders
Genetic mutations and types
Mutation is a permanent change in an organism's genome that can occur at the single nucleotide level through point mutations like substitutions, transitions, and transversions, or through insertions, deletions, and frameshift mutations. Mutagens are agents like radiation or chemicals that cause genetic mutations. Various techniques can detect mutations, including single strand conformational polymorphism and heteroduplex analysis. Examples of genetic disorders caused by mutations are Down syndrome from improper chromosome 21 separation and cri-du-chat syndrome from a deletion on chromosome 5.
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
Gene Mutation
This document discusses genetic mutations and DNA repair. It defines mutations as heritable changes in genetic material that can provide genetic variation and be the basis for evolution. Mutations can be caused spontaneously during DNA replication or cell division, or can be induced by environmental mutagens. The majority of mutations are neutral or harmful, with a small percentage being beneficial. Different types of mutations are described, including point mutations, insertions, deletions, and trinucleotide repeats. The effects of mutations on genes and proteins are explained. The timing of mutations as either germline or somatic is an important factor. Causes of spontaneous mutations like depurination and deamination are outlined.
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.
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.
RECOMBINATION MOLECULAR BIOLOGY PPT UPDATED new.pptx
This ppt is about recombination and where it occurs. Types of recombination and models of recombination along with many factors in prokaryotic and eukaryotic recombination
Gene regulation
Gene regulation ensures that the appropriate genes are expressed at the proper times and helps organisms respond to their environment. It involves mechanisms that increase or decrease production of gene products. The lac operon in E. coli regulates lactose metabolism genes in response to lactose and glucose levels. When lactose is present, it induces the operon by binding the repressor protein and allowing transcription. When glucose is high, cAMP levels are low and transcription is low. The lac operon precisely controls lactose gene expression through a repressor protein and RNA polymerase binding.
Recommended
Mutation
The slide include contents:
Mutation-Definition
Levels of Mutation
Features of Mutation
Types of Mutation
Mutations based on functional effects of the change
Genetic disorders
Genetic mutations and types
Mutation is a permanent change in an organism's genome that can occur at the single nucleotide level through point mutations like substitutions, transitions, and transversions, or through insertions, deletions, and frameshift mutations. Mutagens are agents like radiation or chemicals that cause genetic mutations. Various techniques can detect mutations, including single strand conformational polymorphism and heteroduplex analysis. Examples of genetic disorders caused by mutations are Down syndrome from improper chromosome 21 separation and cri-du-chat syndrome from a deletion on chromosome 5.
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
Gene Mutation
This document discusses genetic mutations and DNA repair. It defines mutations as heritable changes in genetic material that can provide genetic variation and be the basis for evolution. Mutations can be caused spontaneously during DNA replication or cell division, or can be induced by environmental mutagens. The majority of mutations are neutral or harmful, with a small percentage being beneficial. Different types of mutations are described, including point mutations, insertions, deletions, and trinucleotide repeats. The effects of mutations on genes and proteins are explained. The timing of mutations as either germline or somatic is an important factor. Causes of spontaneous mutations like depurination and deamination are outlined.
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.
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.
RECOMBINATION MOLECULAR BIOLOGY PPT UPDATED new.pptx
This ppt is about recombination and where it occurs. Types of recombination and models of recombination along with many factors in prokaryotic and eukaryotic recombination
Gene regulation
Gene regulation ensures that the appropriate genes are expressed at the proper times and helps organisms respond to their environment. It involves mechanisms that increase or decrease production of gene products. The lac operon in E. coli regulates lactose metabolism genes in response to lactose and glucose levels. When lactose is present, it induces the operon by binding the repressor protein and allowing transcription. When glucose is high, cAMP levels are low and transcription is low. The lac operon precisely controls lactose gene expression through a repressor protein and RNA polymerase binding.
Types of Mutation :- Frameshift, Reversion and Spontaneous
Mutation is the random process whereby genes change from one allelic form to another.
Mutation can occur in two directions; mutation from wild type to mutant is called a forward mutation, and mutation from mutant to wild type is called a back mutation or reversion.
TRANSPOSABLE ELEMENTS
This document discusses transposable elements (TEs), which are segments of DNA that can move within genomes. It covers their discovery by Barbara McClintock in corn in the 1940s. TEs are classified into different types based on their structure and mechanism of movement. The document also examines the mechanisms of transposition, mutagenic effects, regulation, and presence of TEs across bacteria, fungi, and eukaryotes like humans. TEs make up a large fraction of genomes and contribute to genetic variation and disease.
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.
Mutations, types , causes
Mutations are changes in DNA sequences that can occur in genes, chromosomes, or the genome. There are several types of mutations including substitutions, insertions, deletions, and frameshifts. Mutations can be caused by errors during DNA replication or by exposure to mutagens like radiation. While some mutations are harmful and cause genetic disorders, others can be beneficial and lead to evolution. Researchers have studied mutations that occurred early in human development by analyzing DNA sequences from adult tissues to gain insights into embryology.
Transposable elements
Transposable elements, also known as jumping genes, are DNA sequences that can move within genomes. They were first discovered in the 1940s and are common across eukaryotes. Transposable elements are divided into two classes - retrotransposons, which move via an RNA intermediate, and DNA transposons, which move via a cut-and-paste mechanism. While transposable element movement can cause mutations, they also contribute to genetic diversity and evolution through processes like exon shuffling. Eukaryotes have developed epigenetic mechanisms like DNA methylation and small interfering RNAs to regulate and silence transposable elements in genomes.
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.
BACTERIAL RECOMBINATION, PLASMIDS AND EPISOMES
Bacterial genetic recombination can occur through transformation, transduction, or conjugation. Transformation involves DNA uptake from dead bacteria. Transduction involves DNA transfer by bacteriophages. Conjugation involves DNA transfer through cell-to-cell contact via plasmids or sex pili. Plasmids are small extrachromosomal DNA molecules that can replicate independently and be transferred between bacteria. Episomes can exist independently or integrate into chromosomes, and include plasmids, viruses, and transposons.
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
spontaneous and induced mutations
Mutations can occur spontaneously during DNA replication or be induced by environmental factors like chemicals or radiation. Spontaneous mutations arise from errors in DNA replication or chemical changes to bases like deamination, while induced mutations are caused by mutagens that damage DNA like radiation, base analogs, or intercalating agents. Both spontaneous and induced mutations can lead to changes in the genetic code through base substitutions, insertions, or deletions.
Transposons and mechanisms of transposition
Transposons are DNA sequences that can move within genomes. There are two main categories: DNA transposons, which use a cut-and-paste mechanism, and retrotransposons, which use a copy-and-paste mechanism. Barbara McClintock discovered the first transposable element in maize in the 1940s. DNA transposons have been found in bacteria and eukaryotes, while retrotransposons are more common in eukaryotes. Retrotransposons include LTR retrotransposons and non-LTR retrotransposons such as LINEs and SINEs, which account for a large percentage of the human genome. Transposition mechanisms involve RNA transcription, reverse
Complementation test; AC-DS System in Maize
The document discusses the Ac-Ds transposable element system in maize and complementation testing. It notes that Ac is an autonomous transposable element that enables the movement of Ds elements. McClintock discovered that Ac, Ds, and the C gene are responsible for color instability in maize seeds. Complementation testing determines if two recessive mutations represent alleles of the same gene or different genes.
Mutation
This document discusses various types of mutations including their causes and effects. It begins by defining mutation as a sudden, random change in genetic material that causes cells to differ from normal cells. Mutations can be caused by errors during DNA replication or exposure to mutagens. There are several types of mutations including point mutations, which involve a single base pair change, and frameshift mutations, which alter the reading frame. Mutations can be classified based on whether they occur in somatic or germ cells, their location in genes or chromosomes, and their effects. Overall, mutations provide the raw material for evolution by generating genetic variation.
Gene mutations ppt
Gene mutations can occur when there is a change in the DNA code, such as a substitution, insertion, or deletion of nucleotide bases. Substitution mutations, where one base is swapped for another, typically have the smallest effect since only one amino acid may change. Insertion and deletion mutations, which add or remove bases, can have larger effects by disrupting the reading frame of the entire DNA sequence. An example is sickle cell anemia, a substitution mutation that causes red blood cells to take on a sickle shape.
Genetic code
This document summarizes key aspects of protein synthesis and the genetic code. It begins by explaining that protein synthesis, also called translation, uses the genetic code to translate mRNA sequences into amino acid sequences to form proteins. The genetic code is described as a dictionary that uses triplet codons to specify which of 20 amino acids will be incorporated into a growing polypeptide chain. Each codon is recognized by a complementary anticodon on transfer RNA molecules. The genetic code has several notable features, including being universal across all living things, having some redundancy with multiple codons specifying the same amino acid, and including three non-overlapping stop codons that terminate protein synthesis.
Gene concept
This document discusses different concepts of genes including:
1. Classical concepts viewed genes as units of heredity, transmission of characters, and mutation.
2. Molecular concepts define genes as the entire nucleic acid sequence required for protein synthesis, including coding and regulatory regions.
3. Genes have a fine structure and can be divided into functional units called cistrons based on complementation testing of mutants.
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.
Lecture-7-Gene Duplication (1).pptx
Gene duplication refers to the duplication of a region of DNA containing a gene. This is a major mechanism of generating new genetic material during evolution. Read mapping involves aligning short DNA reads to a reference genome sequence to determine their positions. Several data structures like suffix trees, suffix arrays, and the Burrows-Wheeler transform are used to index genomes for efficient read mapping.
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.
Regulation of gene regulation in Eukaryotes
This document discusses regulation of gene expression in eukaryotes. It describes six main levels of control: transcription, RNA processing, mRNA transport, mRNA translation, mRNA degradation, and protein degradation. Key differences between prokaryotic and eukaryotic gene expression are explained, such as eukaryotes possessing nuclei and more complex regulation. Examples of short-term regulation including the GAL gene pathway in yeast and hormone response are provided.
Transposable elements in Maize And Drosophila
Transposable elements are mobile DNA sequences found in genomes of all organisms. Barbara McClintock discovered transposable elements called Ac and Ds in maize that cause color patterns in corn kernels. Her discovery showed that genes can move within genomes. Experiments with Drosophila revealed another transposable element called P elements that cause hybrid dysgenesis. Transposable elements can provide genetic variation and flexibility that influences evolution.
Mutations
Mutations are changes in genetic material that can be passed from parent cells to daughter cells. There are two main types of mutations:
1. Spontaneous mutations arise from errors in DNA replication and can include base pair substitutions like transitions/transversions and frameshift mutations from insertions/deletions of bases.
2. Induced mutations are caused by external mutagenic agents like chemicals or radiation that alter DNA structure.
Mutations can have varying effects depending on if they result in nonsense/missense amino acid changes or are silent/neutral. Frameshift mutations alter all codons after the mutation. Mutations are an important source of genetic variation and play a role in evolution.
Mutation by Rimsha Khan.ppt
Mutations are changes in the nucleotide sequence of DNA that can ultimately change phenotypes. Mutations can occur in somatic cells or gametes and be passed to offspring. Most mutations are neutral or repaired by enzymes, but some can be harmful, like those that cause cancers, or beneficial by improving survival. There are two main types of mutations: chromosomal mutations, which involve changes in chromosome structure like deletions or duplications; and point mutations, where a single nucleotide is changed, as in sickle cell disease. Point mutations can be missense, nonsense, or frameshift, all of which can result in defective proteins if they occur in genes.
More Related Content
What's hot
Types of Mutation :- Frameshift, Reversion and Spontaneous
Mutation is the random process whereby genes change from one allelic form to another.
Mutation can occur in two directions; mutation from wild type to mutant is called a forward mutation, and mutation from mutant to wild type is called a back mutation or reversion.
TRANSPOSABLE ELEMENTS
This document discusses transposable elements (TEs), which are segments of DNA that can move within genomes. It covers their discovery by Barbara McClintock in corn in the 1940s. TEs are classified into different types based on their structure and mechanism of movement. The document also examines the mechanisms of transposition, mutagenic effects, regulation, and presence of TEs across bacteria, fungi, and eukaryotes like humans. TEs make up a large fraction of genomes and contribute to genetic variation and disease.
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.
Mutations, types , causes
Mutations are changes in DNA sequences that can occur in genes, chromosomes, or the genome. There are several types of mutations including substitutions, insertions, deletions, and frameshifts. Mutations can be caused by errors during DNA replication or by exposure to mutagens like radiation. While some mutations are harmful and cause genetic disorders, others can be beneficial and lead to evolution. Researchers have studied mutations that occurred early in human development by analyzing DNA sequences from adult tissues to gain insights into embryology.
Transposable elements
Transposable elements, also known as jumping genes, are DNA sequences that can move within genomes. They were first discovered in the 1940s and are common across eukaryotes. Transposable elements are divided into two classes - retrotransposons, which move via an RNA intermediate, and DNA transposons, which move via a cut-and-paste mechanism. While transposable element movement can cause mutations, they also contribute to genetic diversity and evolution through processes like exon shuffling. Eukaryotes have developed epigenetic mechanisms like DNA methylation and small interfering RNAs to regulate and silence transposable elements in genomes.
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.
BACTERIAL RECOMBINATION, PLASMIDS AND EPISOMES
Bacterial genetic recombination can occur through transformation, transduction, or conjugation. Transformation involves DNA uptake from dead bacteria. Transduction involves DNA transfer by bacteriophages. Conjugation involves DNA transfer through cell-to-cell contact via plasmids or sex pili. Plasmids are small extrachromosomal DNA molecules that can replicate independently and be transferred between bacteria. Episomes can exist independently or integrate into chromosomes, and include plasmids, viruses, and transposons.
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
spontaneous and induced mutations
Mutations can occur spontaneously during DNA replication or be induced by environmental factors like chemicals or radiation. Spontaneous mutations arise from errors in DNA replication or chemical changes to bases like deamination, while induced mutations are caused by mutagens that damage DNA like radiation, base analogs, or intercalating agents. Both spontaneous and induced mutations can lead to changes in the genetic code through base substitutions, insertions, or deletions.
Transposons and mechanisms of transposition
Transposons are DNA sequences that can move within genomes. There are two main categories: DNA transposons, which use a cut-and-paste mechanism, and retrotransposons, which use a copy-and-paste mechanism. Barbara McClintock discovered the first transposable element in maize in the 1940s. DNA transposons have been found in bacteria and eukaryotes, while retrotransposons are more common in eukaryotes. Retrotransposons include LTR retrotransposons and non-LTR retrotransposons such as LINEs and SINEs, which account for a large percentage of the human genome. Transposition mechanisms involve RNA transcription, reverse
Complementation test; AC-DS System in Maize
The document discusses the Ac-Ds transposable element system in maize and complementation testing. It notes that Ac is an autonomous transposable element that enables the movement of Ds elements. McClintock discovered that Ac, Ds, and the C gene are responsible for color instability in maize seeds. Complementation testing determines if two recessive mutations represent alleles of the same gene or different genes.
Mutation
This document discusses various types of mutations including their causes and effects. It begins by defining mutation as a sudden, random change in genetic material that causes cells to differ from normal cells. Mutations can be caused by errors during DNA replication or exposure to mutagens. There are several types of mutations including point mutations, which involve a single base pair change, and frameshift mutations, which alter the reading frame. Mutations can be classified based on whether they occur in somatic or germ cells, their location in genes or chromosomes, and their effects. Overall, mutations provide the raw material for evolution by generating genetic variation.
Gene mutations ppt
Gene mutations can occur when there is a change in the DNA code, such as a substitution, insertion, or deletion of nucleotide bases. Substitution mutations, where one base is swapped for another, typically have the smallest effect since only one amino acid may change. Insertion and deletion mutations, which add or remove bases, can have larger effects by disrupting the reading frame of the entire DNA sequence. An example is sickle cell anemia, a substitution mutation that causes red blood cells to take on a sickle shape.
Genetic code
This document summarizes key aspects of protein synthesis and the genetic code. It begins by explaining that protein synthesis, also called translation, uses the genetic code to translate mRNA sequences into amino acid sequences to form proteins. The genetic code is described as a dictionary that uses triplet codons to specify which of 20 amino acids will be incorporated into a growing polypeptide chain. Each codon is recognized by a complementary anticodon on transfer RNA molecules. The genetic code has several notable features, including being universal across all living things, having some redundancy with multiple codons specifying the same amino acid, and including three non-overlapping stop codons that terminate protein synthesis.
Gene concept
This document discusses different concepts of genes including:
1. Classical concepts viewed genes as units of heredity, transmission of characters, and mutation.
2. Molecular concepts define genes as the entire nucleic acid sequence required for protein synthesis, including coding and regulatory regions.
3. Genes have a fine structure and can be divided into functional units called cistrons based on complementation testing of mutants.
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.
Lecture-7-Gene Duplication (1).pptx
Gene duplication refers to the duplication of a region of DNA containing a gene. This is a major mechanism of generating new genetic material during evolution. Read mapping involves aligning short DNA reads to a reference genome sequence to determine their positions. Several data structures like suffix trees, suffix arrays, and the Burrows-Wheeler transform are used to index genomes for efficient read mapping.
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.
Regulation of gene regulation in Eukaryotes
This document discusses regulation of gene expression in eukaryotes. It describes six main levels of control: transcription, RNA processing, mRNA transport, mRNA translation, mRNA degradation, and protein degradation. Key differences between prokaryotic and eukaryotic gene expression are explained, such as eukaryotes possessing nuclei and more complex regulation. Examples of short-term regulation including the GAL gene pathway in yeast and hormone response are provided.
Transposable elements in Maize And Drosophila
Transposable elements are mobile DNA sequences found in genomes of all organisms. Barbara McClintock discovered transposable elements called Ac and Ds in maize that cause color patterns in corn kernels. Her discovery showed that genes can move within genomes. Experiments with Drosophila revealed another transposable element called P elements that cause hybrid dysgenesis. Transposable elements can provide genetic variation and flexibility that influences evolution.
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Types of Mutation :- Frameshift, Reversion and Spontaneous
Types of Mutation :- Frameshift, Reversion and Spontaneous
Similar to Mutation
Mutations
Mutations are changes in genetic material that can be passed from parent cells to daughter cells. There are two main types of mutations:
1. Spontaneous mutations arise from errors in DNA replication and can include base pair substitutions like transitions/transversions and frameshift mutations from insertions/deletions of bases.
2. Induced mutations are caused by external mutagenic agents like chemicals or radiation that alter DNA structure.
Mutations can have varying effects depending on if they result in nonsense/missense amino acid changes or are silent/neutral. Frameshift mutations alter all codons after the mutation. Mutations are an important source of genetic variation and play a role in evolution.
Mutation by Rimsha Khan.ppt
Mutations are changes in the nucleotide sequence of DNA that can ultimately change phenotypes. Mutations can occur in somatic cells or gametes and be passed to offspring. Most mutations are neutral or repaired by enzymes, but some can be harmful, like those that cause cancers, or beneficial by improving survival. There are two main types of mutations: chromosomal mutations, which involve changes in chromosome structure like deletions or duplications; and point mutations, where a single nucleotide is changed, as in sickle cell disease. Point mutations can be missense, nonsense, or frameshift, all of which can result in defective proteins if they occur in genes.
BU5.4 Gene Mutations
Mutations are changes in DNA that can be inherited or acquired. They occur due to errors in DNA replication or environmental damage. Most mutations are neutral, but some can be harmful, causing diseases, or beneficial, increasing chances of survival. There are different types of mutations including point mutations like missense, nonsense, and silent mutations as well as frameshift mutations from insertions or deletions of DNA bases. Mutation provides variation that can be adaptive and is thus a mechanism of evolution over generations.
Mutation - Types Chromosomal and gene mutation
This document discusses different types of mutations that can occur in DNA. It defines mutations as changes in the nucleotide sequence of DNA that can happen either in somatic cells or gametes. There are two main types of mutations: chromosomal mutations, which involve changes to the structure or number of chromosomes, and gene mutations, which are changes to a single gene. Chromosomal mutations include deletions, inversions, translocations, nondisjunction, and duplications. Gene mutations can be point mutations such as substitutions, silent mutations, missense mutations, or nonsense mutations. Frameshift mutations are also a type of gene mutation that change the reading frame of DNA. Mutations can be either harmful if they cause diseases or beneficial if they improve organism
BU5.4 DNA (Gene) Mutations
Mutations are changes in the DNA sequence that can occur during DNA replication. They can be inherited from parents or acquired via errors during replication or environmental damage. Most mutations are neutral, but some can be harmful, causing diseases, or beneficial, increasing chances of survival. There are several types of mutations including point mutations like missense, nonsense, and silent mutations as well as frameshift mutations caused by insertions or deletions of DNA bases. Mutation provides the genetic variation that can be acted on by natural selection, allowing evolution to occur over generations as adaptive mutations become more common.
Mutation.pptx
Mutations are changes in an organism's DNA sequence. Most mutations have no effect, but some can be harmful or beneficial. There are several types of mutations, including substitutions, insertions, deletions, and frameshifts. Substitutions exchange one nucleotide for another. Insertions and deletions add or remove nucleotides, potentially shifting the reading frame and changing the resulting protein. Frameshift mutations are especially likely to be harmful.
Mutation
Mutations are permanent changes in DNA sequence that can occur in germ cells or somatic cells. While mutations can cause inherited diseases and cancers, some mutations can also help with survival. Every generation experiences 100-200 new mutations, with one mutation occurring per 30 million base pairs on average. There are different types of mutations, including base substitutions (point mutations), frame shift mutations, and others. Point mutations alter a single base and can be transitions, transversions, or cause silent, missense, or nonsense changes. Frame shift mutations involve the insertion or deletion of nucleotides, altering the reading frame. While some mutations are harmful, others can have no effect or even provide benefits to survival.
Mutation by Prof V P Acharya, Biochemistry, KIMS Bhubaneswar
This presentation is targeted for MBBS, MD and BDS students. It describes different types of mutation and their outcome.
MUTATION BY PRANZLY.ppt
Mutation
A mutation is a change in the DNA’s nucleotide sequence.
An abrupt shift in the nucleotide sequence causes an organism’s morphological traits to change. Such a change is referred to as a mutation if it is heritable.
So, mutation is defined as any heritable change in the sequence of nucleotide of DNA.
Features
Change in number- it is the change in the number or arrangement of nucleotide sequence of a gene.
It is heritable change in the DNA sequence.
Permanent structural change inherited material DNA effects
Can be harmful/beneficial or have no effects.
Can be sometimes attributed to random chance events.
Can be caused by mistakes during cell division or
May be caused by exposure to DNA damaging agents to the environment such as radiation and Mutagenic chemicals.
Types
Point mutation
-Silent Mutation
-Non sense Mutation
-Mis sense Mutation
Frame shift mutation
Substitution
Addition
Deletion
Causes
MUTAGENS
Physical
Chemical
Biological
CHAPTER 1.1.pptx
This document discusses various types of mutations that can occur during strain development for industrial biotechnology. It describes spontaneous and induced mutations, including point mutations like substitutions, deletions, and insertions. Transposons and errors in DNA replication and repair enzymes can also cause mutations. Specific types of point mutations are discussed in detail, such as silent, missense, and nonsense mutations. Frameshift mutations that alter the reading frame are also summarized. The goal of strain development is to generate mutants with improved product yields and lower costs through targeted or random mutagenesis.
Mutations Powerpoint.ppt
Mutations are changes in the DNA sequence that can occur in somatic or germ-line cells. Most mutations are neutral but some can be harmful, causing diseases like cancer, or beneficial by improving survival. There are different types of mutations including chromosome mutations, which involve changes to chromosomes like deletions, inversions, duplications, and translocations, and gene mutations, such as point mutations, insertions, deletions, and frameshift mutations, that change single nucleotides in genes. Chromosome nondisjunction can cause disorders like Down syndrome by producing gametes with an abnormal number of chromosomes.
Mutations and mutagenesis MPH 19 1-15
This document discusses DNA mutations and mutagenesis. It defines mutation as a heritable alteration in genetic material and describes the main types of mutations: substitutions, deletions, insertions, and frameshift mutations. It also discusses what causes mutations, including spontaneous mutations from replication errors and induced mutations from exposure to mutagens like chemicals, UV radiation, and ionizing radiation. Mutagens can cause changes in DNA structure like thymine dimers or breaks in the phosphodiester backbone. Learning objectives are to understand the definition of mutation, different types of mutations, and common mutagens.
types-of-mutations.ppt
Mutations are changes in the nucleotide sequence of DNA that can occur in somatic or gamete cells. Most mutations are neutral or repaired by enzymes, but some can be harmful, like causing cancers, or beneficial by improving survival. There are two main types of mutations - chromosome mutations, which involve changes to chromosomes like deletions or duplications, and gene mutations, which change the nucleotide sequence of genes through point mutations, insertions, or deletions. Frameshift mutations specifically change the reading frame of proteins.
types-of-mutations.ppt
Mutations are changes in the nucleotide sequence of DNA that can occur in somatic or gamete cells. Most mutations are neutral or repaired by enzymes, but some can be harmful, like causing cancers, or beneficial by improving survival. There are two main types of mutations - chromosome mutations, which involve changes to chromosomes like deletions or duplications, and gene mutations, which change the nucleotide sequence of genes through point mutations, insertions, or deletions. Frameshift mutations specifically change the reading frame of proteins.
Mutation.pptx
Mutations are alterations in a genome's nucleotide sequence that can occur in somatic or germ-line cells. Mutations can be harmful and cause diseases, beneficial by allowing organisms to better survive, or neutral with no observable effects. There are several types of mutations including point mutations like missense, nonsense, and silent mutations as well as frameshift mutations involving insertions or deletions of nucleotide bases. Chromosomal mutations can also occur and affect multiple genes.
Mutationby madhuhewa&judygarza
Mutations are changes in the DNA sequence that can be caused by mistakes during DNA replication or by environmental factors like radiation. There are several types of mutations including point mutations, frameshift mutations, and chromosomal mutations. Point mutations involve a single DNA building block and can be missense, nonsense, or silent. Frameshift mutations are insertions or deletions that affect all subsequent amino acids. Chromosomal mutations involve changes in chromosome structure like translocations or deletions. Genetic mutations can cause disorders like cystic fibrosis, fragile X syndrome, and Klinefelter's syndrome.
12L-Mutation.pptx
Mutations can occur at the gene or chromosome level. Gene mutations include point mutations such as substitutions (nonsense, missense, silent), insertions, and deletions. Point mutations change a single nucleotide, while insertions and deletions cause frameshift mutations by altering the entire reading frame. Chromosome mutations include aneuploidy, where an extra or missing chromosome causes monosomy or trisomy, and chromosomal rearrangements like duplications, deletions, inversions, and translocations. Mutations can have advantages by allowing adaptation, but can also cause genetic disorders and diseases.
Lec no 4(3).pptx
Mutations are alterations in a genome's nucleotide sequence that can occur in somatic or gamete cells. They can be caused by point mutations like missense or nonsense mutations which change single nucleotides, or frameshift mutations like insertions or deletions which alter the reading frame. Mutations can have harmful effects and cause diseases, but can also occasionally provide benefits by allowing organisms to adapt to their environments. The ability to drink milk as an adult is an example of a helpful mutation.
Types of mutations
This document summarizes different types of mutations, including point mutations and chromosomal mutations. It discusses that mutations are changes in the nucleotide sequence of DNA that can occur in somatic or germ cells. Chromosomal mutations involve changes in chromosome number or structure, such as deletions, inversions, or translocations. Point mutations are changes to a single nucleotide and can be substitutions, silent mutations, missense mutations, or nonsense mutations. An example is sickle cell disease, which is caused by a single nucleotide substitution. Frameshift mutations add or delete bases, changing the meaning of the entire protein. Mutations can be caused by mutagens like radiation or chemicals.
CONCEPT OF MUTATION AND ITS CLASSIFICATION .pptx
The presentation focuses on the concept of mutation and its different types of classifications.
It describes the different types of mutagens, classification of mutations based on its transmission, based on its effect on encoded protein and based on its effect on the functions of proteins.
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Mutation by Prof V P Acharya, Biochemistry, KIMS Bhubaneswar
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Mutation
- 2. • Is it mutation?
- 3. Specific Learning Objectives • Define mutation • Classification of mutations • Example for each type of mutation • What are mutagens? • Manifestation of mutations • Ame`s test
- 4. What Are Mutations? • Changes in the nucleotide sequence of DNA • May occur in somatic cells (aren’t passed to offspring) • May occur in gametes (eggs & sperm) and be passed to offspring
- 6. Are Mutations Helpful or Harmful? • Mutations happen regularly • Almost all mutations are neutral • Chemicals & UV radiation cause mutations • Many mutations are repaired by enzymes
- 8. Are Mutations Helpful or Harmful? • Some type of skin cancers and leukemia result from somatic mutations • Some mutations may improve an organism’s survival (beneficial)
- 9. Types of Gene Mutations • Include: –Point Mutations –Substitutions –Insertions –Deletions –Frameshift
- 11. Point Mutation • Change of a single nucleotide • Includes the deletion, insertion, or substitution of ONE nucleotide in a gene
- 13. Point Mutation • Sickle Cell disease is the result of one nucleotide substitution • Occurs in the hemoglobin gene
- 14. SUBSTITUTION • Transition- replacement of purine by another purine • Transversion- purine is changed to pyrimidine
- 15. DELETION a) Large gene deletions- eg: alpha-thalassemia hemophilia b) Deletion of codon- eg: cystic fibrosis 508th phenylalanine missing in CFTR protein c) Deletion of single base- frameshift effect
- 16. INSERTION Single base addition- frameshift effect Trinucleotide expansion- Huntington`s chorea CAG trinucleotides repeated 30-300 times Duplications- unequal crossing over of chromosomes during meiosis
- 17. EFFECTS OF MUTATIONS Silent mutation Mis-sense but acceptable Mis-sense partially acceptable Mis-sense unacceptable Nonsense Frameshift conditional
- 18. Silent mutation • Point mutation • Mutation is silent; no effect on phenotype • Eg- CUA mutated to CUC - LEUCINE
- 19. Mis-sense acceptable • Hemoglobin A molecule- 67th aminoacid in betachain is valine (GUU) Point mutation GCU-alanine Hb Sydney
- 20. Mis-sense partially acceptable • Aminoacid substitution affects functional properties of protein • Eg: sickle cell anemia- GAG to GUG • GLUTAMATE to VALINE
- 21. Mis-sense Unacceptable • Single aminoacid substitution produces nonfunctional protein and is incompatible with life • Eg: HbM- Histidine (CAU) to tyrosine (UAU) in alpha chain leads to methemoglobinemia
- 22. Nonsense terminator • UAC- Tyrosine mutated to terminator codon (UAA or UAG) • Premature termination of protein • Functional activity is lost- beta thalassemia
- 23. Frame shift mutation Addition or deletion of bases Reading frame shifts – completely irrelevant protein with altered aminoacid sequence Thalassemia, premature termination, run on polypepetide
- 24. Mutations • Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function. – Insertion • THE FAT CAT ATE THE RAT • THE FAT HCA TAT ETH ERA T – Deletion • THE FAT CAT ATE THE RAT • TEF ATC ATA TET GER AT H H
- 27. Conditional mutation • Spontaneous mutations are conditional • Manifested only when circumstances are appropriate • Combination of antitubercular drugs to overcome resistance