Chromosome Y microsatellites: population genetic and evolutionary aspects

Abstract

By means of a multicenter study, a large number of males have been characterized for Y-chromosome specific short tandem repeats (STRs) or microsatellites. A complete summary of the allele frequency distributions for these Y-STRs is presented in the Appendix. This manuscript describes in more detail some of the population genetic and evolutionary aspects for a restricted set of seven chromosome Y STRs in a selected number of population samples. For all the chromosome Y STRs markedly different region-specific allele frequency distributions were observed, also when closely related populations were compared. Haplotype analyses using AMOVA showed that when four different European male groups (Germans, Dutch, Swiss, Italians) were compared, less than 10% of the total genetic variability was due to differences between these populations. Nevertheless, these pairwise comparisons revealed significant differences between most population pairs. Assuming a step-wise mutation model and a mutation frequency of 0.21%, it was estimated that chromosome Y STR-based evolutionary lines of descent can be reliably inferred over a time-span of only 1950 generations (or about 49,000 years). This reduces the reliability of the inference of population affinities to a historical, rather than evolutionary time scale. This is best illustrated by the construction of a human evolutionary tree based on chromosome Y STRs in which most of the branches connect in a markedly different way compared with trees based on classical protein polymorphisms and/or mtDNA sequence variation. Thus, the chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs. However, in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.g. base-substitutions.

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool

“…34,[35][36][37][38] Data relative to DYS19 are given in Table 3. The Palóc do not display the DYS19 A allele and show one of the lowest frequencies so far encountered of the DYS19 C allele (6.7%); the DYS19 B allele has a value (53.3%) close to centralnorthern Europeans, 14,[39][40][41] whereas the DYS19 D allele reaches a frequency (26.7%) similar to those of eastern European populations (31% in Trieste and Bratislava) and of a group of Mongolians (30%). 39,41,42 The 'mixed Hungarians' of Budapest significantly differ from the Palóc sample (P = 0.027, Fisher exact test).…”

“…The Palóc do not display the DYS19 A allele and show one of the lowest frequencies so far encountered of the DYS19 C allele (6.7%); the DYS19 B allele has a value (53.3%) close to centralnorthern Europeans, 14,[39][40][41] whereas the DYS19 D allele reaches a frequency (26.7%) similar to those of eastern European populations (31% in Trieste and Bratislava) and of a group of Mongolians (30%). 39,41,42 The 'mixed Hungarians' of Budapest significantly differ from the Palóc sample (P = 0.027, Fisher exact test). They are more heterogeneous and show a high frequency (22.7%) of the DYS19 A allele (as Romanians, 22% 39,41 ), lower frequencies of alleles DYS19 B and DYS19 D (31.8% and 13.6%, respectively) and a higher frequency of the DYS19 C allele (18.2%).…”

Forensic value of 14 novel STRs on the human Y chromosome

“…Much progress has been made in establishing a large database of many European populations using the following Y-STRs: DYS19, DYS385, DYS389I, DYS389II-I, DYS390, DYS391, DYS392, and DYS393. These Y-STRs define the ''minimal haplotype'', while the addition of YCAII to the these Y-STRs has been termed the ''extended haplotype'' [1,16,17] (Y-STR Haplotype Reference Database http://www.ystr.charite.de/ index_gr.html).…”

Origen geno-geográfico de haplotipos STR de cromosoma Y en una muestra cauásico-mestiza y afrodescendiente de Colombia

“…The tetranucleotide STR DYS19, DYS385, DYS389-I, DYS389-II, DYS390, DYS391 and DYS393 and the trinucleotide DYS392 were analyzed as follow: Primers sequences for DYS19, DYS390, DYS391 and DYS392 were those described previously (3)(4)(5). PCR amplifications were carried out as single loci for DYS19, and DYS392 with identical conditions as described (3 …”

“…In recent years, the analysis of Y chromosome polymorphisms has become an important tool for anthropological studies as well as in regular forensic casework (1)(2)(3)(4)(5)(6). A set of 8 Y-chromosome specific Short Tandem Repeats found in the nonrecombinant portion of the Y chromosome -the tetranucleotide STR DYS19, DYS385, DYS389-I, DYS389-II, DYS390, DYS391 and DYS393 and the trinucleotide DYS392-conforms the minimal haplotype for forensic casework (7).…”