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Population Genetics of Y-Chromosome Short Tandem Repeats in Humans (1997)

Pérez-Lezaun, Anna ; Calafell, Francesc ; Seielstad, Mark ; [et al.]

Springer

Journal of molecular evolution 45 (1997), S. 265-270

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ISSN: 1432-1432

Keywords: Key words: Y chromosome — STR — Microsatellite — Basques — Catalans — Haplotype

Source: Springer Online Journal Archives 1860-2000

Topics: Biology

Notes: Abstract. Eight human short tandem repeat polymorphisms (STRs) also known as microsatellites—DYS19, DYS388, DYS390, DYS391, DYS392, DYS393, DYS389I, and DYS389II, mapping in the Y chromosome—were analyzed in two Iberian samples (Basques and Catalans). Allele frequency distributions showed significant differences only for DYS392. Fst and gene diversity index (D) were estimated for the Y STRs. The values obtained are comparable to those of autosomal STR if corrections for the smaller effective population size on the Y chromosome are taken into account. This suggests that Y-chromosome microsatellites might be as useful as their autosomal counterparts to both human population genetics and forensics. Our results also reinforce the hypothesis that selective sweeps in the Y chromosome in recent times are unlikely. Haplotypes combining five of the loci were constructed for 71 individuals, showing 29 different haplotypes. A haplotype tree was constructed, from which an estimate of 7,000 to 60,000 years for the age of the Y-chromosome variation in Iberia was derived, in accordance with previous estimates obtained with mtDNA sequences and nuclear markers.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/PL00006229

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Microsatellite variation and the differentiation of modern humans (1996)

Pérez-Lezaun, Anna ; Calafell, Francesc ; Mateu, E. ; [et al.]

Springer

Human genetics 〈Berlin〉 99 (1996), S. 1-7

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract This study presents an analysis of 20 tetranucleotide microsatellites in 16 worldwide human populations representing the major geographic groups. Global Fst values for the 20 microsatellites are indicators of their relative validity as tools in human population genetics. Four different measures of genetic distance (Fst, DSW, δμ 2 and Rst) have been tested and compared with each other. Neighbor-joining trees have been constructed for all the measures of genetic distance and populations. Measures of genetic distance such as Fst, which does not consider different mutational relationships among alleles and has a known relationship to differentiation by drift, and to some extent DSW, reflect what is known of human evolution, while mutation-based distances such as Rst and δμ 2 give very different results from those recognized from other sources (genetic or archaeological). When the genetic relationship between human populations is analyzed through allelic frequencies for microsatellites, the choice of distance may be a key issue in the picture obtained of genetic relationships between human populations. The results of the present study suggest that genetic drift played the main role in generating the present distributions of microsatellite alleles and their variation among human populations; the role of mutation must have been less important owing to the time constraint imposed by the small timescale in which most human differentiation has occurred. Moreover, the results support the theory of a recent origin of modern humans, although the existence of strong bottlenecks in the origin of the various human groups seems unlikely.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s004390050299

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