variation Flashcards
Lecture 6 - Mari Knight
genetic mutation
inherited change in genetic information
its the only means by which new genetic variation is created
caused by :
- copying errors
- exposure to mutagens ( radiation or chemicals )
- virus or virus-like sequences
point mutation
a mutation involving a change in a single base pair
chromosomal mutations
eliminate, duplicate, or rearrange segments
whole genome events
duplication of entire genomes ( e.g ploidy changes )
substitutions ( point mutation )
one base is simply substituted for another
two types :
- transitions
purine to purine
pyrimidine to pyrimidine - transversions ( G-C , C-A , A-T , T-G )
purine to pyrimidine
pyrimidine to purine
natural mutation ( substitution )
happens in non-coding sequence
synonymous/silent mutation ( substitution )
the single mutation results in the same amino acid being coded for
AAA = lysine AAG = lysine
non-synonymous / coding mutation ( substitution )
the single mutation results in a different amino acid being coded for
- change protein primary structure
non-sense mutation ( substitution )
mutation causes a amino acid codon to change to a stop codon
deletions ( point mutation )
one or more nucleotide (s) are deleted from the DNA sequence
insertions ( point mutation )
one or more nucleotide (s) are inserted into the DNA sequence
frameshift mutations
A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the reading frame
( deletions and insertions )
slippage
misalignment of DNA strands during the replication of repeated DNA sequences
common in highly repetitive sequences
gene duplications ( larger scale mutations )
can be brought about by copying errors or transposable elements
duplicate gene (s) 1. pseudogenes ( not expressed ) 2. (multi) gene families ( expressed )
chromosomal rearrangements ( larger scale mutations )
a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome
caused when chromosomal alignment and pairing during meiosis malfunctions
major force of evolution
aneuploidy ( larger scale mutations )
a change in the number of individual chromosomes
e.g monosomy, trisomy, tetrasomy
polyploidy ( larger scale mutations )
one or more complete sets of chromosomes is added, wither from the same species ( autopolyploids ) or as a result of hybridisation between two different species ( allopolyploids )
chromosomal inversion ( chromosomal rearrangments )
a chromosome rearrangement in which a segment of a chromosome is reversed end-to-end
chromosomal translocation ( chromosomal rearrangments )
occurs when a chromosome breaks and the (typically two) fragmented pieces re-attach to different chromosomes
horizontal gene transfer
the non-sexual movement of genetic information between genomes
‘molecular clock’
a figurative term for a technique that uses the mutation rate of biomolecules to deduce the time in prehistory when two or more life forms diverged