Different patterns of variation at the X- and Y-chromosome-linked microsatellite loci DXYS156X and DXYS156Y in human populations

Tatiana Karafet, Peter De Knijff, Elizabeth Wood, Jared Ragland, Andrew Clark, Michael F. Hammer

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

We compared the global pattern of variation at two homologous microsatellites mapping to the long arm of the X chromosome (DXYS156X) and to the short arm of the Y chromosome (DXYS156Y) in humans. A single pair of oligonucleotide primers amplifies these two nonallelic loci, each of which contains polymorphism in the number of pentanucleotide units. We observed 11 alleles in a sample of 2290 X chromosomes and 2006 Y chromosomes from 50 populations representing 6 major geographic regions. The overlapping size range of the X- and Y-chromosome alleles indicated a more complex distribution of alleles at these two loci than previously reported. Contrasting patterns of X-chromosome-linked and Y-chromosome-linked variation were reflected in statistically significant differences in genetic diversity values among geographic regions and between X and Y chromosomes. Higher levels of diversity characterized the DXYS156X locus in Africa (0.799 ± 0.004) and the DXYS156Y locus in East Asia (0.700 ± 0.006) compared with populations from other regions. These different patterns of variation can be explained by a combination of processes at both the molecular and population levels, including variable mutation rates, different effective population sizes, and genetic drift.

Original languageEnglish (US)
Pages (from-to)979-992
Number of pages14
JournalHuman biology
Volume70
Issue number6
StatePublished - Dec 1 1998

Keywords

  • DXYS156Y locus
  • DXYSI56X locus
  • Microsatellite polymorphism
  • Population structure
  • Sex chromosomes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Genetics(clinical)

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