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Divergent human Y-chromosome microsatellite evolution rates.

D R Carvalho-Silva1, F R Santos, M H Hutz

  • 1Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, 31270-910 Belo Horizonte, Brazil.

Journal of Molecular Evolution
|August 12, 1999
PubMed
Summary

The microsatellite DYS19 shows low variability in the Amerindian Y chromosome DYS199-T lineage, unlike other Y-linked loci. This slow evolution is linked to the founder allele

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Area of Science:

  • Population Genetics
  • Human Genetics
  • Forensic Genetics

Background:

  • Microsatellite markers are crucial for Y chromosome lineage analysis and human population studies.
  • The DYS19 microsatellite locus exhibits variable evolutionary rates across different Y chromosome lineages.
  • Founder effects and allele-specific characteristics can influence microsatellite variability within specific Y chromosome haplogroups.

Purpose of the Study:

  • To investigate the factors contributing to the unusually low variability of the DYS19 microsatellite in the Amerindian Y chromosome DYS199-T lineage.
  • To compare the variability of DYS19 with other Y-linked tetranucleotide repeat loci within the same lineage.
  • To explore the relationship between microsatellite structural properties and evolutionary rates in different Y chromosome lineages.

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Main Methods:

  • Comparative analysis of DYS19 variability against five other Y-linked tetranucleotide repeat loci (DYS389A, DYS389B, DYS390, DYS391, DYS393) in the DYS199-T lineage.
  • Assessment of microsatellite variability using gene diversity and repeat number variance.
  • Examination of microsatellite mapping positions, repeat motif composition, flanking regions, and repeat block size.

Main Results:

  • DYS19 demonstrated significantly lower variability compared to other tetranucleotide repeat loci within the DYS199-T lineage.
  • The low variability of DYS19 in this lineage appears to be locus and allele-specific, contrasting with its higher diversity observed globally.
  • A smaller average repeat number for DYS19 in the DYS199-T lineage was identified as a potential factor for its reduced variability, a trend also observed in other Y lineages.

Conclusions:

  • The evolutionary rate of Y chromosome microsatellites, particularly DYS19, is influenced by the size of the founder allele's repeat block within specific lineages.
  • Microsatellite variability in Y chromosome lineages defined by slowly evolving markers requires careful consideration of founder allele characteristics.
  • Lineage-dating methodologies employing microsatellite variation necessitate cautious application, accounting for lineage-specific evolutionary dynamics.