Difference between evolutionarily effective and germ line mutation rate due to stochastically varying haplogroup size.
Within a Y-chromosome haplogroup defined by unique event mutations, variation in microsatellites can accumulate due to their rapid mutation. Estimates based on pedigrees for the Y-chromosome microsatellite mutation rate are 3 or more times greater than the same estimates from evolutionary considerations. We show by simulation that the haplogroups that survive the stochastic processes of drift and extinction accumulate microsatellite variation at a lower rate than predicted from corresponding pedigree estimates; in particular, under constant total population size, the accumulated variance is on average 3-4 times smaller.
Zhivotovsky
Lev A
LA
N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia. levazh@gmail.com
Underhill
Peter A
PA
Feldman
Marcus W
MW
D041322:Chromosomes, Human, Y / Q000235:genetics; D019143:Evolution, Molecular; D014644:Genetic Variation; D005828:Genetics, Population; D018095:Germ-Line Mutation / Q000502:physiology*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000502:physiology; D009154:Mutation / Q000502:physiology*; D013269:Stochastic Processes