Genome Seq and Evolution, Cluster and Repeats Flashcards
Polymorphism
Existence of 2 or more variants
Alleles on a gene show extensive polymorphism at sequence level, but…
Many sequence changes do not affect function
Responsible for most of genetic variation between individuals?
SNPs
A change in DNA sequence in a coding region that does NOT alter the amino acid encoded (faster accumulation than opposite)
Synonymous mutation
A change in DNA sequence in a coding region that alters the amino acid encoded
Nonsynonymous mutation
Frequency of a neutral mutation depends on…
Genetic drift
Gene conversion bias
Increases GC content
Mutational bias
High AT content (methylation of amine)
Fixation
Process by which a new allele replaces the allele that was previously predominant in a population
Small population vs large population fixation opportunity?
Small population = higher fixation opportunity
Genetic hitchhiking
Change in frequency of a genetic variant due to its linkage to selected variant at another locus
NS > S Substitutions
Positive selection
S > NS Substitutions
Negative selection
Nonrandom association between alleles at two different loci
Linkage disequilibrium
______ substitutions accumulate 10x faster than ______ substitutions
Synonymous, nonsynonymous
How is evolutionary divergence between DNA sequences measured?
Corrected % of positions at which corresponding nucleotides differ
Genes that are unique to vertebrates are connected with…
Immune and nervous systems
Duplicated genes can ______, or one copy can _______
Diverge to generate different genes, become an inactive pseudogene
Globin gene clusters
Arose by duplication and divergence from ancestral gene that had 3 exons (alpha and beta-globin separated in early vertebrate evolution period)
Processed pseudogenes result from…
Reverse transcription and integration of mRNA transcripts
Nonprocessed pseudogenes result from…
Incomplete duplication or second-copy mutation from functional genes
Increases the chromosome number by a multiple of two (gene duplication)
Polyploidization
Polyploidization from mitotic or meiotic errors within a species
Autopolyploidy
Polyploidization from hybridization between two different but reproductively compatible species
Allopolyploidy