1999/12/01 by Jonathan K. Pritchard, Mark Seielstad, Anna Pérez-Lezaun +1 · 13 citations
Biochemistry, Genetics and Molecular Biology · #Genetic diversity and population structure #Genetic Associations and Epidemiology #Evolution and Genetic Dynamics #Biology #Population #Demographic history #Y chromosome #Chromosome #Microsatellite #Most recent common ancestor #Evolutionary biology #Effective population size #Genetics #Ancestor #Mutation #Mutation Accumulation #Population size #Mutation rate #Natural selection #Genetic variation #Allele #Demography #Gene #Genome
paper · pdf · doi:10.1093/oxfordjournals.molbev.a026091
openalex publication_date 1999/12/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
We use variation at a set of eight human Y chromosome microsatellite loci to investigate the demographic history of the Y chromosome. Instead of assuming a population of constant size, as in most of the previous work on the Y chromosome, we consider a model which permits a period of recent population growth. We show that for most of the populations in our sample this model fits the data far better than a model with no growth. We estimate the demographic parameters of this model for each population and also the time to the most recent common ancestor. Since there is some uncertainty about the details of the microsatellite mutation process, we consider several plausible mutation schemes and estimate the variance in mutation size simultaneously with the demographic parameters of interest. Our finding of a recent common ancestor (probably in the last 120,000 years), coupled with a strong signal of demographic expansion in all populations, suggests either a recent human expansion from a small ancestral population, or natural selection acting on the Y chromosome.