This document defines and describes different types of mutations. It begins by defining mutations as alterations in nucleotides that can occur in DNA, viruses, or other genetic material. There are two main types of mutations: gene mutations, which alter the sequence of nucleotides, and chromosomal mutations, which involve changes in chromosomes. Gene mutations can be point mutations such as substitutions, insertions, or deletions of single nucleotide bases. Chromosomal mutations include deletions, duplications, translocations, inversions, and changes in chromosome number. Mutations can be harmful and cause diseases, neutral, or in rare cases beneficial by providing an evolutionary advantage. Examples of different mutation types and their effects are provided.
Some of the landmark discoveries are tabulated below: 1902 Haberlandt proposed concept of in vitro cell culture 1966 Guha and Maheshwari produced first haploid plants from pollen grains of Datura
1904 Hannig cultured embryos from several cruciferous species 1970 Smith and Nathans discovered first restriction enzyme from Haemophilus influenza (HindIII)
1922 Kolte and Robbins successfully cultured root and stem tips respectively 1970 Baltimore isolated Reverse transcriptase from RNA tumour virus
two dimensional gel electrophoresis system
genetic engineering, principles, b pharma 6th sem, biotechnology
What is a gene ?
Definition
History
Process
Molecular tools of genetic engineering
Restriction enzymes
History of restriction enzyme
Mechanism of action
Types of restriction enzymes
Application of restriction enzymes
Blunt ends
Sticky ends
transgenic
cisgenic.
knockout organism.
Host organism vector
TRANSGENIC PLANTS
DOLLY THE SHIP
TRANSGENIC ANIMALS
Some of the landmark discoveries are tabulated below: 1902 Haberlandt proposed concept of in vitro cell culture 1966 Guha and Maheshwari produced first haploid plants from pollen grains of Datura
1904 Hannig cultured embryos from several cruciferous species 1970 Smith and Nathans discovered first restriction enzyme from Haemophilus influenza (HindIII)
1922 Kolte and Robbins successfully cultured root and stem tips respectively 1970 Baltimore isolated Reverse transcriptase from RNA tumour virus
two dimensional gel electrophoresis system
genetic engineering, principles, b pharma 6th sem, biotechnology
What is a gene ?
Definition
History
Process
Molecular tools of genetic engineering
Restriction enzymes
History of restriction enzyme
Mechanism of action
Types of restriction enzymes
Application of restriction enzymes
Blunt ends
Sticky ends
transgenic
cisgenic.
knockout organism.
Host organism vector
TRANSGENIC PLANTS
DOLLY THE SHIP
TRANSGENIC ANIMALS
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extra chromosomal DNA or other genetic elements.
Mutations result from errors during DNA replication (especially during meiosis) or other types of damage to DNA (such as may be caused by exposure to radiation or carcinogens), which then may undergo error-prone repair or cause an error during other forms of repair,
The study of nucleic acids began with the discovery of DNA, progressed to the study of genes and small fragments, and has now exploded to the field of genomics. Genomics is the study of entire genomes, including the complete set of genes, their nucleotide sequence and organization, and their interactions within a species and with other species. The advances in genomics have been made possible by DNA sequencing technology. [Source: https://opentextbc.ca/biology/chapter/10-3-genomics-and-proteomics/]
It is defined simply as a technique to efficiently and stably introduce foreign genes into the genome of target cells.
The insertion of unrelated, therapeutic genetic information in the form of DNA into target cells
Mutation Repair and DNA Replication.pptxhamzalatif40
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.
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extra chromosomal DNA or other genetic elements.
Mutations result from errors during DNA replication (especially during meiosis) or other types of damage to DNA (such as may be caused by exposure to radiation or carcinogens), which then may undergo error-prone repair or cause an error during other forms of repair,
The study of nucleic acids began with the discovery of DNA, progressed to the study of genes and small fragments, and has now exploded to the field of genomics. Genomics is the study of entire genomes, including the complete set of genes, their nucleotide sequence and organization, and their interactions within a species and with other species. The advances in genomics have been made possible by DNA sequencing technology. [Source: https://opentextbc.ca/biology/chapter/10-3-genomics-and-proteomics/]
It is defined simply as a technique to efficiently and stably introduce foreign genes into the genome of target cells.
The insertion of unrelated, therapeutic genetic information in the form of DNA into target cells
Mutation Repair and DNA Replication.pptxhamzalatif40
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.
Introduction about genetics and its definition, other genetic disorders, the genes inherited from your parents, deoxyribonucleic acid (DNA), the mutation, the DNA translation and transcription, and the overview of the applcations of Biology-Technology.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Richard's aventures in two entangled wonderlandsRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
Seminar of U.V. Spectroscopy by SAMIR PANDASAMIR PANDA
Spectroscopy is a branch of science dealing the study of interaction of electromagnetic radiation with matter.
Ultraviolet-visible spectroscopy refers to absorption spectroscopy or reflect spectroscopy in the UV-VIS spectral region.
Ultraviolet-visible spectroscopy is an analytical method that can measure the amount of light received by the analyte.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...Ana Luísa Pinho
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
Observation of Io’s Resurfacing via Plume Deposition Using Ground-based Adapt...Sérgio Sacani
Since volcanic activity was first discovered on Io from Voyager images in 1979, changes
on Io’s surface have been monitored from both spacecraft and ground-based telescopes.
Here, we present the highest spatial resolution images of Io ever obtained from a groundbased telescope. These images, acquired by the SHARK-VIS instrument on the Large
Binocular Telescope, show evidence of a major resurfacing event on Io’s trailing hemisphere. When compared to the most recent spacecraft images, the SHARK-VIS images
show that a plume deposit from a powerful eruption at Pillan Patera has covered part
of the long-lived Pele plume deposit. Although this type of resurfacing event may be common on Io, few have been detected due to the rarity of spacecraft visits and the previously low spatial resolution available from Earth-based telescopes. The SHARK-VIS instrument ushers in a new era of high resolution imaging of Io’s surface using adaptive
optics at visible wavelengths.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
2. Definition
• Mutation is basically alteration of one or more
nucleotides in an organism extra
chromosomal DNA, virus or any material
related to gene.
• Mutations occur due to mutagens.
3. Generally:
• Permanent change.
• Vary in size from genome to genome.
• Alteration may be single or large fragment
containing one or more than one gene mutation
is cause of dissimilarities between individuals of
same species and different .
• It may lead to evolution.
4. History:
• Mutations idea extends from Darwin to modern
genetics.
• Since than there have been a lot of changes in
the definition of the term
• Today Mutations are important in order to
differentiate between the individuals.
5. History:
• Prof Sir Mike Stratton :
• He was the first one who gave remarks on the
mutations that occur in embryo.
• Mutations can help in better understanding of
human development.
6. Causes
• DNA fails to copy accurately:
Most mutation is naturally occurring .when cell
devide it makes makes copy of DNA Some time
copy not perfect. Small difference from original
DNA is mutation.
• External influences can create mutations
Mutation can cause by specific chemicals or
radiations. These cause to break DNA. When cell
repair the DNA then it might not be a perfect
job.
7. Types
There are two types of mutations:
• Gene Mutation
• Chromosomal Mutation
9. Gene Mutation
• Gene mutation is describe as any change in the
nucleotides sequence.
• This change occur in single nucleotide base or
large segment.
• Due to this genetic variations occur.
• Some variations may help for better survive.
• Different mutagens which produce mutation.
10. Types
• There are basic types
1. Point mutation
i.) Insertion
ii.) Deletion
11. Point mutation
• Simple type of gene mutation.
• Single base pair altered.
• Mostly occur during DNA replication.
• Caused by mutagens.
12.
13. Insertion
• One or more nucleotide base pair are added into
a sequence of DNA.
14. Deletion
• In which segment of DNA is removed which
consist of one or more nucleotide.
15. • Point mutation on basis of protein structure:
1. Silent Mutation.
2. Missense Mutation.
3. Nonsense Mutation.
16. Frameshift Mutation
• Frameshift mutation- Adding or deleting
nucleotides to a DNA sequence.
• A frameshift mutation is much worse than a point
mutation because it causes the entire DNA
sequence to be shifted over.
Example: DNA: ATTAAACCG
ATAAACCG
18. Tay-Sachs Disease:
The absence of a vital enzyme called
Hexosamindase A (Hex-A)
Hex-
A
Accumulation of GM2 in nerve
cells of the brain
Normally
However, in Tay-Sachs, there is no Hex-A so this
process does not occur
20. Cystic Fibrosis
• Inherited monogenic disorder presenting as a
multisystem disease.
• Typically presents in childhood
▫ 7% of CF patients diagnosed as adults
• Most common life limiting recessive trait among
whites
21. Cystic Fibrosis
• Prognosis improving
▫ 38% of CF patients are older than 18
▫ 13% of CF patients are older than 30
• Median survival:
▫ Males: 32 years
▫ Females: 29 years
22. Genetics of CF
• Autosomal recessive.
• Gene located on chromosome 7.
23. Genetics of CF
• Most common mutation occurs in 70% of CF
chromosomes 3 base pair deletion leading to
absence of phenylalanine at position 508 (DF508)
of the CF transmembrane conductance regulator
(CFTR)
• DF508 mutation leads to improper processing
and intracellular degradation of the CFTR
protein
25. Deletion
• Deletion is the lost of the nucleotides from the
chromosomes the loss could be in larger number
or in smaller number.
• Deletion is actually when a base is deleted from
the sequence.
• Chromosomal fragment are lost due to deletion
of a base.
• There is no specific location for deletion, it can
happens anywhere or everywhere.
26. • Sometimes the one copy of gene is lost from the
organism which have two copies before or
sometimes both the copies from an organism
lost.
27. Duplication
• Duplication is opposite to deletion.
• A part is copied or replicated.
• A sequence is repeated or may be a single base
or two bases are repeated or duplicated.
• This type of chromosome have an extra
information or repeated information.
28.
29. Mechanism of Duplication
• There are following five mechanism of
duplication that are defined below
Ectopic recombination:
• Duplication due to unequal crossing over occurs
during meiosis in misaligned homologous
chromosomes.
• It occurs due to the replication of two elements
of chromosome.
30. Replication Slippage
• It is actually a error in the DNA due to which short
sequences are repeated in the chromosomes.
• DNA polymerases starts copiyng the DNA during
replication process.
• It place the Strand in wrong location and accidently
copy the strand again due to which the duplication
occurs.
• Replication slippage is actually the repetitive
sequences
31. Retrotransposition
• Retrotransposons are genetic elements that
can amplify themselves in a genome.
• These DNA sequences use a "copy-and-paste"
mechanism, whereby they are
first transcribed into RNA, then converted back
into identical DNA sequences using reverse
transcription, and these sequences are then
inserted into the genome at target sites.
32. Polyploid
• Poliploid cells and organisms are those
containing more than two paired (homologous)
sets of chromosomes.
• Most species whose cells have nuclei
(Eukaryotes) are diploid, meaning they have two
sets of chromosomes—one set inherited from
each parent.
33. Aneuploidy
• Aneuploidy is the presence of an abnormal
number of chromosomes in a cell, for example a
human cell having 45 or 47 chromosomes
instead of the usual 46.
• It does not include a difference of one or more
complete sets of chromosome.
34. Inversions:
• An inversion is a chromosome rearrangement in
which a segment of a chromosome is reversed end to
end.
• Breakage and rearrangement within a chromosome.
• Inversions do not change the overall amount of the
genetic material.
• Show no particular abnormalities at the phenotypic
level.
35.
36. • Inversions usually do not cause any
abnormalities.
• In individuals which are heterozygous for an
inversion, there is an increased production of
abnormal chromatids.
• This leads to lowered fertility due to production
of unbalanced gametes
37.
38. Types:
There are two types of Inversion mutation in
chromosomes:
• Pericentric Inversions.
• Paracentric Inversions.
39. Pericentric Inversions:
• Pericentric inversions include the centromere
and there is a break point in each arm.
• Chromosome can be elongated or shorted after
the inversions have taken place.
40. Paracentric Inversions:
• Paracentric inversions do not include
the centromere and both breaks occur in one
arm of the chromosome.
• A reversal of the normal order of genes in a
chromosome segment involving only the part of
a chromosome at one side of the centromere.
41. Detection:
• Cytogenetic techniques may be able to detect
inversions, or inversions may be inferred
from genetic analysis.
In most species small inversions go undetected.
42. Example:
• The most common inversion seen in humans is
on chromosome 9, at inv(9)(p12q13).
• No harmful effects.
• Suspicion it could lead to an increased risk for
miscarriage or infertility for some affected
individuals.
43. Translocation:
• A chromosome translocation is
a chromosome abnormality caused by
rearrangement of parts between
nonhomologous chromosomes.
• Translocations can
be balanced or unbalanced.
44.
45. Types:
• Balanced:
in an even exchange of material with no genetic
information extra or missing, and ideally full
functionality
• Unbalanced:
Where the exchange of chromosome material is
unequal resulting in extra or missing genes.
46. Diseases Caused:
• Some human diseases caused by translocations are:
• Cancer: Described mainly in leukemia. Translocations
have also been described in solid malignancies such
as Ewing's sarcoma.
• Infertility: If parent is a carrier of balanced then chances
of an offspring being infertile are increased.
• Down syndrome: Caused by Translocation between
chromosome 21 and chromosome 14
47. Harmful Mutation
• In which organism fitness is decreased and
produced a diseases.
• Sickle cell anemia, color blindness etc
Are all mutations harmful?
• Change the codes for protein synthesis.
• Single mutation or more than 10 mutation.
49. Harmful Mutation
Explanation:
• Most inherited genetic diseases are recessive.
• Some disease caused by one copy of defective
gene.
• Rare (Huntington’s Disease)
• 5-10 deadly mutation in our body
50. Harmful Mutation
Causes:
i. Radiation
(UV Radiation, X-rays)
ii. Chemicals
Also called mutagens.
(Benzoyl peroxide, cigarette smoke)
iii. Infectious Agents.
(Human papillomavirus)
51. Harmful Mutation
Chemicals Contaminations:
• 28 April, 1986
• Chernobyl Disaster
• 985,000 excess cancers occurred between 1986
and 2004. (Russian Publication)
• 1.4 million excess cancers occurred
(2001, European Committee on Radiation Risk)
52. Examples
Sickle cell Anemia:
• Hemoglobin-Beta gene found on chromosome
11.
• Sickle shaped red blood cells.
• Type of point mutation.
• Two copies of the mutated genes cause sickle cell
anemia.
53. Examples
Huntington’s disease:
• Mutation in chromosome number 4.(HD
gene)
• Basal ganglia cells are destroyed.
• 50% chance.
• Symptoms appear between 30 to 50 ages.
55. Beneficial mutation
Beneficial Mutation:
• Which are helpful for humans.
• EXAMPLES
i. Apolipoprotein AL Milano
ii. Increased bone density
iii. Malaria resistance
iv. Tetrachromatic vision
56. Beneficial mutation
Apo lipoprotein:
• All humans have a gene which are said to be
apolipoprotein.
• The function of this gene is to transport
cholesterol via the process of bloodstream.
• It is considered more beneficially due to the
removal of cholestrol from arteries.
57. Beneficial mutation
Increased bone density:
• The gene which caused bone density in human
being are said to be low lipoprotein related to
protein 5 (LRP5).
58. Beneficial mutation
Malaria Resistance:
• These variations occur in humans due to the
hemoglobin variation that make it like sickle
shape
• The missing of one copy of that gene in human
causes 29% chances to get malaria. On the other
hand people with two copies of this gene
respond to 93% of that disease
59. Tetra chromatic vision:
• Different genes present in humans shows
different color vision of light.
• The gene which has one kind of cone show blue
color at chromosome at 7.
60. Beneficial mutation in organisms:
1. Nylonase: nylon bacteria
• Nylonase are the most authentic example of
beneficial mutation in bacteria.
• Nylonase eat the short molecule of nylon 6.
61. Gene mutation: Almond Trees:
• The species which have almond contain
amygdalin.
• Amygdalin is a chemical that convert the cyanide
into human body.