Open AccessDNA Dinucleotide Evolution in Humans: Fitting Theory to Facts
Author(s) -
Alexander Renwick,
Leslea Janice Davison,
Heidi Spratt,
J. Patrick King,
Marek Kimmel
Publication year - 2001
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1093/genetics/159.2.737
Subject(s) - biology , mutation rate , microsatellite , genetics , skewness , loss of heterozygosity , mutation , population , dispersion (optics) , variance (accounting) , evolutionary biology , statistics , allele , mathematics , gene , physics , demography , accounting , sociology , optics , business
We examine length distributions of approximately 6000 human dinucleotide microsatellite loci, representing chromosomes 1-22, from the GDB database. Under the stepwise mutation model, results from theory and simulation are compared with the empirical data. In both constant and expanding population scenarios, a simple single-step model with parameters chosen to account for the observed variance of microsatellite lengths produces results inconsistent with the observed heterozygosity and the dispersion of length skewness. Complicating the model by allowing a variable mutation rate accounts for the homozygosity, and introducing a small probability of a large mutation step accounts for the dispersion in skewnesses. We discuss these results in light of the long-term evolution of microsatellites.