This document discusses various topics related to mutation, including:
1. Mutation is a permanent change in DNA sequence that can occur through errors in DNA replication or due to external factors like radiation or chemicals.
2. There are different types of mutations such as substitutions, insertions, deletions, and frameshifts, each with their own effects.
3. Mutations provide genetic variation that allows mechanisms like natural selection and genetic drift to drive evolutionary change over generations.
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.
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.
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.
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.
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.
mutations Is a process that produces a gene or chromosome that differs from the wild type.
The mutation may result due to changes either on the gene or the chromosome itself.
Mutation Repair and DNA Replication.pptxhamzalatif40
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That are the two major types of mutations are chromosomal aber.pdffckindswear
That are the two major types of mutations? are chromosomal aberrations gene mutations
different? are the 5 types of chromoso are some types of gene
Solution
1.Gene mutations and chromosomal mutations are the two types of mutations.
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene,such that
the sequence differs from what is found in most people.Mutations range in size;they can affect
anywhere from a single DNA building block (base pair) to a large segment of a chromosome that
includes multiple genes.
Gene mutations can be classified in two major ways:
Hereditary mutations are inherited from a parent and are present throughout a persons life in
virtually every cell in the body.These mutations are also called germline mutations because they
are present in the parents egg or sperm cells,which are also called germ cells.When an egg and a
sperm cell unite,the resulting fertilized egg cell receives DNA from both parents. If this DNA
has a mutation,the child that grows from the fertilized egg will have the mutation in each of his
or her cells.
Acquired mutations occur at some time during a persons life and are present only in certain
cells,not in every cell in the body.These changes can be caused by environmental factors such as
ultraviolet radiation from the sun,or can occur if a mistake is made as DNA copies itself during
cell division.Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be
passed on to the next generation.
The four main types of chromosomal mutations are deletion,duplication,inversion and
translocation.A fifth chromosomal mutation is known as a deficiency.This occurs when a
chromosome is lost sometime during fertilization or development of a fetus.A deletion is the loss
of a chromosomal fragment.This causes genes to be lost in the fetus.A duplication mutation
occurs when chromosomal fragments are doubled,resulting in duplication of genetic
material.Inversion mutations occur when chromosomes change their original directions.During
inversion,mutated chromosomes break and flip at their breakage point.Translocation mutations
occur when nonhomologous chromosomes pair together.All these mutations can be harmful or
benign depending on the chromosomes they affect.
2.A gene mutation is a permanent alteration in the DNA sequence that makes up a gene,such that
the sequence differs from what is found in most people.Genetic mutations can either be acquired
or inherited.Inherited gene mutations are passed from affected parents to their children.Somatic
or acquired mutation is the alteration in the DNA sequence of the gene that is brought after
exposure to certain environmental factors like radiation.Gene mutation usually occurs in two
different ways,base substitution and frame shifts.Base substitution involves replacing one base
pair and its complementary partner,while frame shifts develop when there is one or several bases
involved.
Chromosome mutation occurs when there are changes.
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The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
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5. Sub topics
1..mutation 7..Base alteration
2..DNA, molecular basis of
mutaion
8..Genetics variation
3..Types of mutation 9..Mechanisms of change
4..The causes of mutation
5..Morphological mutation
6..Lethal mutation
6. Mutation
• A mutation is a permanent change in the sequence of
DNA. In order for an observable effect, mutations must
occur in gene exons or regulatory elements.
• In biology, a mutation is a permanent change of the
nucleotide sequence of the genome of an organism, virus,
or extrachromosomal DNA or other genetic elements. .
7. Mutation cont..
• Mutations can involve the duplication of large sections of
DNA, usually through genetic recombination.
• These duplications are a major source of raw material for
evolving new genes, with tens to hundreds of genes
duplicated in animal genomes every million years.
8. Due to small change in in DNA sequences
resultant , mutation occur
9.
10.
11. DNA, The molecular basis of mutations
• Since mutations are simply changes in DNA, in order to
understand how mutations work, you need to understand
how DNA does its job.
• Your DNA contains a set of instructions for "building" a
human. These instructions are inscribed in the structure of
the DNA molecule through a genetic code.
12. DNA, The molecular basis of mutations
cont…
• DNA is made of a long sequence of smaller units strung
together. There are four basic types of units.
• example,.. A, T, G, and C. These letters represents the
type of base each unit carries. adenine, thymine, guanine,
and cytosine.
13. DNA, The molecular basis of mutations
cont…
• The sequence of these bases encodes instructions. Some
parts of your DNA are control centers for turning genes on
and off, some parts have no function, and some parts
have a function that we don't understand yet.
• Other parts of your DNA are genes that carry the
instructions for making proteins — which are long chains
of amino acids. These proteins help build an organism.
14. DNA, The molecular basis of mutations
cont…
• Protein-coding DNA can be divided into codons — sets of
three bases that specify an amino acid or signal the end
of the protein.
15. DNA, The molecular basis of mutations
cont…
• Codons are identified by the bases that make them up in
the example at right, GCA, for guanine, cytosine, and
adenine.
• The cellular machinery uses these instructions to
assemble a string of corresponding amino acids (one
amino acid for each three bases) that form a protein.
16. DNA, The molecular basis of mutations
cont…
• The amino acid that corresponds to "GCA" is called
alanine; there are twenty different amino acids
synthesized this way in humans. "Stop" codons signify the
end of the newly built protein.
• After the protein is built based on the sequence of bases
in the gene, the completed protein is released to do its job
in the cell.
18. Types of mutations
• There are many different ways that DNA can be changed,
resulting in different types of mutation.
1. Substitution
2. Insertion
3. Deletion
4. Frameshift
19. Substitution
• A substitution is a mutation that exchanges one base for
another(i.e., a change in a single "chemical letter" such
as switching an A to a G).
• 1. change a codon to one that encodes a different
amino acid and cause a small change in the protein
produced. For example, sickle cell anemia is caused by a
substitution in the beta-hemoglobin gene, which alters a
single amino acid in the protein produced.
20. Substitution
• 2.change a codon to one that encodes the same amino
acid and causes no change in the protein produced.
These are called silent mutations.
• 3. change an amino-acid-coding codon to a single
"stop" codon and cause an incomplete protein. This can
have serious effects since the incomplete protein probably
won't function.
21.
22. Insertion
• Insertions are mutations in which extra base pairs are
inserted into a new place in the DNA.
24. Frameshift
• protein-coding DNA is divided into codons three bases
long, insertions and deletions can alter a gene so that its
message is no longer correctly passed. These changes
are called frameshifts.
• For example, consider the sentence, "The fat cat sat."
Each word represents a codon. If we delete the first letter
and parse the sentence in the same way, it doesn't make
sense.
27. The causes of mutations
Mutations happen for several reasons.
• 1. DNA fails to copy accurately
• Most of the mutations that we think matter to evolution are
"naturally-occurring." For example, when a cell divides, it
makes a copy of its DNA — and sometimes the copy is
not quite perfect. That small difference from the original
DNA sequence is a mutation.
28.
29. 2.External influences can create
mutations
• Mutations can also be caused by exposure to specific
chemicals or radiation. These agents cause the DNA to
break down. This is not necessarily unnatural — even in
the most isolated and pristine environments, DNA breaks
down. Nevertheless, when the cell repairs the DNA, it
might not do a perfect job of the repair. So the cell would
end up with DNA slightly different than the original DNA
and hence, a mutation.
30.
31.
32. Other types of mutation
Morphological mutations
Morph means “form.” Morphological mutations affect the
outwardly visible properties of an organism, such as shape,
color, or size.
i,e…curly wings in Drosophila, and dwarf peas are all
morphological mutations etc.
33.
34. Lethal mutations
• A mutant trait that leads to a phenotype incapable of
effective reproduction. lethal gene n. A gene whose
expression results in the death of the organism.
• In another words a lethal mutation refers to any and all
mutations that prevent an organism from reproducing in
any way. Lethal mutations do not have to kill the organism
to classify as lethal. An example of a lethal mutation in
humans is Turner Syndrome
35.
36. • Mutations to control genes can transform one body part
into another. Scientists have studied flies carrying Hox
mutations that sprout legs on their foreheads instead of
antennae!
37.
38.
39. Base alteration
• Some mutagens are not incorporated into the DNA but
instead alter a base, causing specific mispairing.
• Certain alkylating agents, such as ethyl methanesulfonate
(EMS) and the widely used nitrosoguanidine (NG),
operate by this pathway.
40. Base alteration cont..
• Although such agents add alkyl groups to many positions
on all four bases, mutagenicity is best correlated with an
addition to the oxygen at the 6 position of guanine to
create an O-6-alkylguanine.
• This alkylation leads to direct mispairing with thymine..
41.
42.
43. Genetics variation:
• Without genetic variation, some of the basic mechanisms
of evolutionary change cannot operate.
• There are three primary sources of genetic variation,
which we will learn more about.
A. Mutation
B. Gene flow
C. sex
44. Genetics variation cont..
• 1. Mutations are changes in the DNA. A single mutation
can have a large effect, but in many cases, evolutionary
change is based on the accumulation of many mutations.
• 2. Gene flow is any movement of genes from one
population to another and is an important source of
genetic variation.
• 3. Sex can introduce new gene combinations into a
population. This genetic shuffling is another important
source of genetic variation.
46. Mechanisms of change:
• Mutation
• A mutation could cause parents with genes for bright
green coloration to have offspring with a gene for brown
coloration. That would make genes for brown coloration
more frequent in the population than they were before the
mutation.
48. Migration and gene flow
• In population genetics, Gene Flow (also known as gene
migration) refers to the transfer of genes from the gene
pool of one population to another.
• Gene flow may change the frequency and/or the range of
alleles in the populations due to the migration of
individuals or gametes that can reproduce in a different
population.
49. Migration and gene flow cont..
• Plant populations can experience gene flow by spreading
their pollen long distances away to other populations by
means of wind or through birds or insects (bees, for
example) and once there, this pollen is able to fertilize the
plants where it ended up. Pollen is a fine to coarse
powder containing the microgametophytes of seed plants,
which produce the male gametes (comparable to sperm
cells).
50. Migration and gene flow cont..
• Human migrations have occurred throughout the history
of mankind and are defined as the movement of people
from one place to another. this movement needs to be
associated with the introduction of new alleles into a
population through successful mating of individuals from
different populations
51.
52. Genetic drift
• Imagine that in one generation, two brown beetles
happened to have four offspring survive to reproduce.
Several green beetles were killed when someone stepped
on them and had no offspring. The next generation would
have a few more brown beetles than the previous
generation — but just by chance. These chance changes
from generation to generation are known as genetic drift
53.
54. Natural selection
• Imagine that green beetles are easier for birds to spot
(and hence, eat). Brown beetles are a little more likely to
survive to produce offspring. They pass their genes for
brown coloration on to their offspring. So in the next
generation, brown beetles are more common than in the
previous generation.
55. Natural selection
• All of these mechanisms can cause changes in the
frequencies of genes in populations, and so all of them
are mechanisms of evolutionary change. However, natural
selection and genetic drift cannot operate unless there is
genetic variation .
