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Summary Mutation and recombination

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Detailed notes on Mutation and recombination

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  • February 21, 2022
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  • 2018/2019
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BLGY1232 Mutation and recombination

Mutation
 Mis-sense mutations cause a codon to change its coding specify from one amino acid
to another  this change might cause the protein structure or activity to be altered
resulting in a novel phenotype
 Non-sense mutations occur when a codon changes from encoding an amino acid to
specifying chain termination which may have no or partial activity depending on
where the mutation occurs in the coding sequence
 Silent mutations result from changes in triplets that do not result in a change of
amino acid in the protein encoded by the gene  Such mutations can occur because
the triplet code is degenerate: often these changes occur in third-base positions
 Neutral mutations are changes that cause an alteration in protein-coding that has no
consequences for protein structure of function  For example, a change that results
in the replacement of an amino acid with another that has similar chemical
properties
 Frame-shifts occur when one or two bases are inserted or deleted in a coding
sequence  Because the code is read in groups of three bases, this will alter the
“reading-frame” of the gene and its mRNA, so that an altered protein is synthesized
 the analysis of this led to the discovery of the triplet code

Other causes in mutation
 Chemical changes;
 Changes to bases can occur that alter their properties
 Deamination of cytosine (which has an amino group on the 4-position of the
pyrimidine ring): the replacement of this amine group by =O turns it into
Uracil - normally found only in RNA  This would result in DNA replication
altering a C-G base-pair to a U-A and then a T-A base pair in successive
rounds, if it were not that DNA repair usually recognizes the U as
inappropriate in DNA  if the deaminated cytosine had been methylated in
the genome (a common modification in DNA), then the chemical change to
the base results in it being altered to a Thymine residue (again, a C-G to a T-A
base pair change)  Because methylated C residues occur commonly within
genomes, they represents “hot-spots” for mutational change
 Depurination of DNA - the removal of purine residues from the DNA
sequence, leaving a gap. When the depurinated strand acts as a template in
DNA replication, any of the 4 possible nucleotides can be incorporated into
the new strand by DNA polymerase
 Many chemical agents modify DNA and are used by geneticists to generate
mutations at random throughout the genome
 Among the most commonly used chemical mutagens, the alkylating agents
(add –CH3 onto =O) ethylmethane sulphonate (EMS) and methylmethane
sulphonate (MMS) are the most popular  targets adenine (AT to GC base
pair change) and guanine (GC to AT base pair change)
 Nitrous acid targets cytosine (CG to TA base pair change) and adenine (AT to
GC base pair change)

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