Recent radiation within Y-chromosomal haplogroup R-M269 resulted in high Y-STR haplotype resemblance

Ann Hum Genet. 2014 Mar;78(2):92-103. doi: 10.1111/ahg.12050.

Abstract

Y-chromosomal short tandem repeats (Y-STRs) are often used in addition to Y-chromosomal single-nucleotide polymorphisms (Y-SNP) to detect subtle patterns in a population genetic structure. There are, however, indications for Y-STR haplotype resemblance across different subhaplogroups within haplogroup R1b1b2 (R-M269) which may lead to erosion in the observation of the population genetic pattern. Hence the question arises whether Y-STR haplotypes are still informative beyond high-resolution Y-SNP genotyping for population genetic studies. To address this question, we genotyped the Y chromosomes of more than 1000 males originating from the West-European regions of Flanders (Belgium), North-Brabant and Limburg (the Netherlands) at the highest resolution of the current Y-SNP tree together with 38 commonly used Y-STRs. We observed high resemblance of Y-STR haplotypes between males belonging to different subhaplogroups of haplogroup R-M269. Several subhaplogroups within R-M269 could not be distinguished from each other based on differences in Y-STR haplotype variation. The most likely hypothesis to explain this similarity of Y-STR haplotypes within the population of R-M269 members is a recent radiation where various subhaplogroups originated within a relatively short time period. We conclude that high-resolution Y-SNP typing rather than Y-STR typing might be more useful to study population genetic patterns in (Western) Europe.

Keywords: Western Europe; Y chromosome; Y-STRs; Y-chromosomal subhaplogroups; genetic discrimination; radiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Belgium
  • Chromosomes, Human, Y / genetics*
  • Genetic Variation
  • Genetics, Population
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats*
  • Netherlands
  • Phylogeny
  • Polymorphism, Single Nucleotide
  • White People / classification
  • White People / genetics*