Population Genetics of Y-Chromosome Short Tandem Repeats in Humans

Pérez-Lezaun, Anna; Calafell, Francesc; Seielstad, Mark; Mateu, Eva; Comas, David; Bosch, Elena; Bertranpetit, Jaume

doi:10.1007/pl00006229

Cited by 82 publications

(53 citation statements)

References 31 publications

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“…[8][9][10][11][12][13] However, the behaviour of DYS388 appears to be inconsistent with the SMM, as was shown in two populations of Middle Eastern origin. 14,15 Additionally, another widely used microsatellite, DYS392, has recently been demonstrated to deviate from the SMM.…”

Section: Introductionmentioning

confidence: 84%

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

et al. 2001

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Deviation from the stepwise mutation model (SMM) at specific human microsatellite loci has implications for population genetic and forensic investigations. In the present study, data on six Y chromosome-specific microsatellites were pooled for 455 paternally unrelated males from six Middle Eastern populations. All chromosomes were assigned to three haplogroups defined by six binary polymorphisms. Two of the microsatellite loci tested, DYS388 and DYS392, displayed marked haplogroup-specific differences in their allele variability. A bimodal distribution of short and long alleles was observed for DYS388 in haplogroup 1 and for DYS392 in haplogroups 1 and 2. Further investigation showed that the short/long alleles segregated almost completely between genealogically distinct haplogroups defined by additional binary markers. Thus, these two loci have a discriminatory power similar to a binary polymorphism. DYS388 was characterised by an extremely low mutation rate in haplogroups 2 and 3, as was DYS392 in haplogroup 3. Sequence analysis of the repeat regions at the two loci revealed no irregularities, indicating that the triplet expansion in these loci is not controlled by sequence variation at the repeat level. A high frequency of long DYS388 alleles has, so far, been found only in populations originating in the Middle East, suggesting that this microsatellite is useful as a region-specific marker. European Journal of Human Genetics (2001) 9, 22-26.

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Section: Introductionmentioning

confidence: 84%

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

et al. 2001

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“…We compared interpopulation F ST estimates of the Y-chromosomal microsatellites corrected for the four-times smaller effective population size (Pérez-Lezaun et al, 1997), with F ST estimates of 20 autosomal microsatellites. In the F ST calculations computed with FSTAT1.2 (Goudet, 1995), the data set comprised the 40 taurine breeds analysed here for the Y-chromosomal markers, plus previously published autosomal microsatellite data from Li et al (2007a) and Tapio et al (2006a).…”

Section: Statistical Analysesmentioning

confidence: 99%

Maternal and paternal genealogy of Eurasian taurine cattle (Bos taurus)

et al. 2009

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Maternally inherited mitochondrial DNA (mtDNA) has been used extensively to determine origin and diversity of taurine cattle (Bos taurus) but global surveys of paternally inherited Ychromosome diversity are lacking. Here, we provide mtDNA information on previously uncharacterised Eurasian breeds and present the most comprehensive Y-chromosomal microsatellite data on domestic cattle to date. The mitochondrial haplogroup T3 was the most frequent, whereas T4 was detected only in the Yakutian cattle from Siberia. The mtDNA data indicates that the Ukrainian and Central Asian regions are zones where hybrids between taurine and zebu (B. indicus) cattle have existed. This zebu influence appears to have subsequently spread into southern and southeastern European breeds. The most common Y-chromosomal microsatellite haplotype, termed here as H11, showed an elevated frequency in the Eurasian sample set compared with that detected in Near Eastern and Anatolian breeds. The taurine Ychromosomal microsatellite haplotypes were found to be structured in a network according to the Y-haplogroups Y1 and Y2. These data do not support the recent hypothesis on the origin of Y1 from the local European hybridization of cattle with male aurochsen. Compared with mtDNA, the intensive culling of breeding males and male-mediated crossbreeding of locally raised native breeds has accelerated loss of Ychromosomal variation in domestic cattle, and affected the contribution of genetic drift to diversity. In conclusion, to maintain diversity, breeds showing rare Y-haplotypes should be prioritised in the conservation of cattle genetic resources.

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“…For dating the biallelic lineages, the following microsatellites were analyzed in a subset of the samples containing the lineages of interest: DYS19, DYS388, DYS389I, DYS390, DYS391, DYS392, and DYS395. These were typed on an Applied Biosystems 373 or 377 as described (13).…”

Section: Y-chromosome Haplotype Frequencies In 49 Eurasian Populationmentioning

confidence: 99%

The Eurasian Heartland: A continental perspective on Y-chromosome diversity

Wells

Yuldasheva

Ruzibakiev

et al. 2001

Proc. Natl. Acad. Sci. U.S.A.

425

391

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The nonrecombining portion of the human Y chromosome has proven to be a valuable tool for the study of population history. The maintenance of extended haplotypes characteristic of particular geographic regions, despite extensive admixture, allows complex demographic events to be deconstructed. In this study we report the frequencies of 23 Y-chromosome biallelic polymorphism haplotypes in 1,935 men from 49 Eurasian populations, with a particular focus on Central Asia. These haplotypes reveal traces of historical migrations, and provide an insight into the earliest patterns of settlement of anatomically modern humans on the Eurasian continent. Central Asia is revealed to be an important reservoir of genetic diversity, and the source of at least three major waves of migration leading into Europe, the Americas, and India. The genetic results are interpreted in the context of Eurasian linguistic patterns.

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Population Genetics of Y-Chromosome Short Tandem Repeats in Humans

Cited by 82 publications

References 31 publications

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

Maternal and paternal genealogy of Eurasian taurine cattle (Bos taurus)

The Eurasian Heartland: A continental perspective on Y-chromosome diversity

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