The document discusses mutation and mutagens. It defines mutation as a change in DNA that may be inherited. Mutations can be caused spontaneously during DNA replication or cell division, or can be induced by physical or chemical mutagens. Physical mutagens like radiation and UV light can directly damage DNA and cause mutations. Chemical mutagens include base analogs that get incorporated into DNA and pair incorrectly during replication, leading to mutations. The document covers different types of mutations like substitutions, insertions, deletions, and their effects. It also discusses spontaneous and induced mutation rates.
Types of Mutation :- Frameshift, Reversion and SpontaneousDvane Coutinho
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.
Презентация по опыту внедрения процесса управления непрерывностью бизнеса в производственной компании и телекоммуникационном операторе. Восстановление сервисов при чрезвычайных ситуациях. Сергей Назаренко
Types of Mutation :- Frameshift, Reversion and SpontaneousDvane Coutinho
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.
Презентация по опыту внедрения процесса управления непрерывностью бизнеса в производственной компании и телекоммуникационном операторе. Восстановление сервисов при чрезвычайных ситуациях. Сергей Назаренко
Describe how the structure of the DNA double helix was discovered. E.pdfarchanadesignfashion
Describe how the structure of the DNA double helix was discovered. Explain how DNA
ultimately controls the functioning of cells (be specific), and how/why mutations in DNA can
disrupt proper functioning. In chapter 2 you learned that the function of DNA and RNA is
\"information storage.\" Using what you\'ve teamed in Chapter 5, describe in detail the specific
functions of DNA and RNA. Explain the process of transcription. Explain the process of
translation. Briefly describe three types of mutations and explain how certain mutations can be
unrecognizable in an organism while others may have disastrous consequences. Summarize
three ways that genetic engineering is being used in agriculture. Explain three concerns
regarding the use of GMO\'s in agriculture How has genetic engineering technology been
directly applied to human health (most agriculture applications are indirect)? Has it been
successful? How are goals used to make medicine?
Solution
1 The function of DNA? depends to a large extent on its structure. The three-dimensional
structure of DNA was first proposed by James Watson and Francis Crick in 1953. It is one of the
most famous scientific discoveries of all time.
James and Francis used evidence shared by others, particularly Rosalind Franklin and Maurice
Wilkins, to determine the shape of DNA. Rosalind worked with Maurice at King\'s College
London. She beamed X-rays through crystals of the DNA molecule and then used photographic
film to record where the scattered X-rays fell. The shadows on the film were then used to work
out where the dense molecules lie in the DNA. This technique is called X-ray diffraction. The
DNA crystals resulted in a cross shape on the X-ray film which is typical of a molecule with a
helix shape. The resulting X-ray was named Photograph 51 and Maurice shared it with James
and Francis.
In 1953 James Watson and Francis Crick published their theory that DNA must be shaped like a
double helix. A double helix resembles a twisted ladder. Each \'upright\' pole of the ladder is
formed from a backbone of alternating sugar and phosphate groups. Each DNA base? (adenine,
cytosine, guanine, thymine) is attached to the backbone and these bases form the rungs. There
are ten \'rungs\' for each complete twist in the DNA helix.
James and Francis suggested that each \'rung\' of the DNA helix was composed of a pair of
bases, joined by hydrogen bonds?. According to Erwin Chargaff’s rules, A would always form
hydrogen bonds with T, and C with G.
2 - It is not the DNA itself that controls cellular functions, it is the proteins that are coded by the
DNA. The nucleotide sequences that make up DNA are a “code” for the cell to make hundreds of
different types of proteins; it is these proteins that function to control and regulate cell growth,
division, communication with other cells and most other cellular functions. This is why DNA is
said to “carry” or “store” information in the form of nucleotide sequences.
The sequences need to be “d.
mutation are sudden inheritable variation cause due to change in structure or size of dna or chromosomes this are sometime responsible for various disease and supernatural power in humans and other creatures
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.
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.
hematic appreciation test is a psychological assessment tool used to measure an individual's appreciation and understanding of specific themes or topics. This test helps to evaluate an individual's ability to connect different ideas and concepts within a given theme, as well as their overall comprehension and interpretation skills. The results of the test can provide valuable insights into an individual's cognitive abilities, creativity, and critical thinking skills
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Heavy metals are naturally occuring metallic chemical elements that have relatively high density, and are toxic at even low concentrations. All toxic metals are termed as heavy metals irrespective of their atomic mass and density, eg. arsenic, lead, mercury, cadmium, thallium, chromium, etc.
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.
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1. Mutation
• A change in the DNA molecule
• Process which produces changes in the DNA
that may be inherited.
2. Mutagenicity
• = mutagenic activity of a compound
• Mutagenic compound = a compound that
causes mutation
• Mutations in certain genes could lead to
malignant transformation of the cell.
• Many mutagens are supposed to be
carcinogenic.
3. Mutations Defined
1. A mutation is a change in a DNA base-pair or a
chromosome.
a. Somatic mutations affect only the individual in which they arise.
b. Germ-line mutations alter gametes, affecting the next generation.
2. Mutations are quantified in two different ways:
a. Mutation rate is the probability of a particular kind of mutation
as a function of time (e.g., number per gene per generation).
b. Mutation frequency is number of times a particular mutation
occurs in proportion to the number of cells or individuals in a
population (e.g., number per 100,000 organisms).
台大農藝系遺傳學601 20000 Chapter 19 slide 3
4. Types of Point Mutations
1. There are two general categories of point mutations: base-pair
substitutions and base-pair deletions or insertions.
2. A base-pair substitution replaces 1 base-pair with another. There are
two types (Figure 19.3):
a. Transitions convert a purine-pyrimidine pair to the other purine-pyrimidine
pair (e.g., AT to GC or TA to CG).
b. Transversions convert a purine-pyrimidine pair to a pyrimidine-purine
pair (e.g., AT to TA, or AT to CG).
3. Base-pair substitutions in ORFs are also defined by their effect on the
protein sequence. Effects vary from none to severe.
a. Nonsense mutations change a codon in the ORF to a stop (nonsense)
codon, resulting in premature termination of translation, and a
truncated (often nonfunctional) protein (Figure 19.4).
台大農藝系遺傳學601 20000 Chapter 19 slide 4
8. b. Missense mutations have a base-pair change resulting in a different mRNA codon,
and therefore a different amino acid in the protein.
c. Phenotypic effects may or may not occur, depending on the specific amino acid
change.
i. Neutral mutations change a codon in the ORF, but the resulting amino acid
substitution produces no detectable change in the function of the protein (e.g.,
AAA to AGA substitutes arginine for lysine. The amino acids have similar
properties, so the protein’s function may not be altered).
ii. Silent mutations occur when the mutant codon encodes the same amino acid as
the wild-type gene, so that no change occurs in the protein produced (e.g., AAA
and AAG both encode lysine, so this transition would be silent).
4. Deletions and insertions can change the reading frame of the mRNA
downstream of the mutation, resulting in a frameshift mutation.
Frameshift mutations result from insertions or deletions when the number of
affected base pairs is not divisible by three.
a. When the reading frame is shifted, incorrect amino acids are usually incorporated.
b. Frameshifts may bring stop codons into the reading frame, creating a shortened
台大農藝系遺傳學601 20000 Chapter 19 slide 8
protein.
c. Frameshifts may also result in read-through of stop codons, resulting in a longer
protein.
9. Reverse Mutations
1. Point mutations are divided into two classes based on their effect on phenotype:
a. Forward mutations change the genotype from wild type to mutant.
b. Reverse mutations (reversions or back mutations) change the genotype from mutant
to wild-type or partially wild-type.
i. A reversion to the wild-type amino acid in the affected protein is a true reversion.
ii. A reversion to some other amino acid that fully or partly restores protein
function is a partial reversion.
台大農藝系遺傳學601 20000 Chapter 19 slide 9
10. Spontaneous and Induced Mutations
1.Most mutations are spontaneous, rather than
induced by a mutagen.
台大農藝系遺傳學601 20000 Chapter 19 slide 10
11. Spontaneous Mutations
1. All types of point mutations can occur spontaneously, during S, G1 and
G2 phases of the cell cycle, or by the movement of transposons.
2. The spontaneous mutation rate in eukaryotes is between 10-4-to-10-6 per
gene per generation, and in bacteria and phages 10-5-to-10-7/
gene/generation.
a. Genetic constitution of the organism affects its mutation rate.
i. In Drosophila, males and females of the same strain have similar
mutation rates.
ii. Flies of different strains, however, may have different mutation
rates.
b. Many spontaneous errors are corrected by the cellular repair systems,
and so do not become fixed in DNA.
台大農藝系遺傳學601 20000 Chapter 19 slide 11
12. DNA Replication Errors
1. DNA replication errors can be either point mutations, or small
insertions or deletions.
2. Base-pair substitution mutations can result from “wobble” pairing. A
normal form of the base-pairs with an incorrect partner due to different
spatial positioning of the atoms involved in H-bonding (Figure 19.6).
An example is a GC-to-AT transition (Figure 19.7):
a. During DNA replication, G could wobble pair with T, producing a GT
pair.
b. In the next round of replication, G and A are likely to pair normally,
producing one progeny DNA with a GC pair, and another with an AT
pair.
c. GT pairs are targets for correction by proofreading during replication,
and by other repair systems. Only mismatches uncorrected before the
next round of replication lead to mutations.
台大農藝系遺傳學601 20000 Chapter 19 slide 12
14. 3. Additions and deletions can occur spontaneously during
replication (Figure 19.8).
a. DNA loops out from the template strand, generally in a run of the
same base.
b. DNA polymerase skips the looped out bases, creating a deletion
mutation.
c. If DNA polymerase adds untemplated base(s), new DNA looping
occurs, resulting in additional mutation.
d. Insertions and deletions in structural genes generate frameshift
mutations (especially if they are not multiples of three).
台大農藝系遺傳學601 20000 Chapter 19 slide 14
17. Induced Mutations
1. Exposure to physical mutagens plays a role in genetic research, where they are used to
increase mutation frequencies to provide mutant organisms for study.
2. Radiation (e.g., X rays and UV) induces mutations.
a. X rays are an example of ionizing radiation, which penetrates tissue and collides with
molecules, knocking electrons out of orbits and creating ions.
i. Ions can break covalent bonds, including those in the DNA sugar-phosphate backbone.
ii. Ionizing radiation is the leading cause of human gross chromosomal mutations.
iii. Ionizing radiation kills cells at high doses, and lower doses produce point mutations.
iv. Ionizing radiation has a cumulative effect. A particular dose of radiation results in the
same number of mutations whether it is received over a short or a long period of time.
b. Ultraviolet (UV) causes photochemical changes in the DNA.
i. UV is not energetic enough to induce ionization.
ii. UV has lower-energy wavelengths than X rays, and so has limited penetrating power.
iii. However, UV in the 254–260 nm range is strongly absorbed by purines and pyrimidines,
forming abnormal chemical bonds.
(1)A common effect is dimer formation between adjacent pyrimidines, commonly
thymines (designated T^T) (Figure 19.11).
(2)C^C, C^T and T^C dimers also occur, but at lower frequency. Any pyrimidine dimer
can cause problems during DNA replication.
(3)Most pyrimidine dimers are repaired, because they produce a bulge in the DNA
helix. If enough are unrepaired, cell death may result.
台大農藝系遺傳學601 20000 Chapter 19 slide 17
19. Chemical Mutagens
1. Chemical mutagens may be naturally occurring, or synthetic. They form
different groups based on their mechanism of action:
a. Base analogs depend upon replication, which incorpocates a base with
alternate states (tautomers) that allow it to base pair in alternate ways,
depending on its state.
i. Analogs are similar to normal nitrogen bases, and so are incorporated
into DNA readily.
ii. Once in the DNA, a shift in the analog’s form will cause incorrect
base pairing during replication, leading to mutation.
iii. 5-bromouradil (5BU) is an example. 5BU has a bromine residue
instead of the methyl group of thymine (Figure 19.12).
(1) Normally 5BU resembles thymine, pairs with adenine and is
incorporated into DNA during replication.
(2) In its rare state, 5BU pairs only with guanine, resulting in a TA-to-
CG transition mutation.
(3) If 5BU is incorporated in its rare form, the switch to its normal
state results in a CG-to-TA transition. Thus 5BU- induced
mutations may be reverted by another exposure to 5BU.
iv. Not all base analogs are mutagens, only those that cause base- pair
changes (e.g, AZT is a stable analog that does not shift).
台大農藝系遺傳學601 20000 Chapter 19 slide 19
22. b. Base-modifying agents can induce mutations at any stage of the cell cycle. They work by modifying the
chemical structure and properties of the bases. Three types are (Figure 19.13):
i. Deaminating agents remove amino groups. An example is nitrous acid (HNO2 ), which
台大農藝系遺傳學601 20000 Chapter 19 slide 22
deaminates G, C and A.
(1) HNO2 deaminates guanine to produce xanthine, which has the same base pairing as G. No
mutation results.
(2) HNO2 deaminates cytosine to produce uradil, which produces a CG-to-TA transition.
(3) HNO2 deaminates adenine to produce hypoxanthine, which pairs with cytosine, causing an
AT-to-GC transition.
ii. Hydroxylating agents include hydroxylamine (NH2OH).
(1) NH2OH specifically modifies C with a hydroxyl group (OH), so that it pairs only with A
instead of with G.
iii. Alkylating agents are a diverse group that add alkyl groups to bases. Usually alkylation occurs at the
6-oxygen of G, producing O6-allcylguanine.
(1) An example is methylmethane sulfonate (MMS), which methylates G to produce O6-alkyl G.
(2) O6-aIkylG pairs with T rather than C, causing GC-to-AT transitions.
25. c. Intercalating agents insert themselves between adjacent bases in dsDNA.
They are generally thin, plate-like hydrophobic molecules.
i. At replication, a template that contains an intercalated agent will cause
insertion of a random extra base.
ii. The base-pair addition is complete after another round of replication,
during which the intercalating agent is lost.
iii. If an intercalating agent inserts into new DNA in place of a normal
base, the next round of replication will result in a deletion mutation.
iv. Point deletions and insertions in ORFs result in frameshift mutations.
台大農藝系遺傳學601 20000 Chapter 19 slide 25