Similarities and distinctions in Y chromosome gene pool of Western Slavs

This paper presents a comprehensive Y-chromosomal STR haplotype analysis in the Lithuanian population in order to evaluate Lithuanians’ Y chromosome diversity, to infer genetic relations between Lithuanian and other European neighbouring populations and to introduce population reference data for generation of reliable Y-STR haplotype frequency estimates to be used in the quantitative assessment of Y-STR haplotype match in the forensic casework. Data were collected from the peripheral blood samples of 194 unrelated males throughout various regions of Lithuania. The amplification of 17 Y-STRs was carried out in one multiplex PCR using an AmpFlSTR® Yfiler<sup>TM</sup> PCR Amplication Kit according to the supplier’s protocol. The results indicated that the Y-chromosomal haplotype diversity in the Lithuanian population rises as the number of the analyzed Y-STRs is increased. However, all additional Y-STR loci are not hypervariable and only their whole makes a large diversity of Y-STR haplotypes in Lithuanian males. The analysis of molecular variance revealed low but significant interpopulation differences except the pair of Lithuanian and Latvian populations. The phylogenetic analysis showed that the clustered Y chromosome gene pool of Lithuanians and Latvians has a closer phylogenetic relation to Russian and Estonian populations and is less genetically related to other neighbouring populations of Belarus and Poland. Yet Y-STRs alleles and haplotypes differentiate effectively inside the Lithuanian population and between Lithuanians and its geographical neighbours excluding the Latvian population. Comparison of the Y-STR data suggests that Lithuanian and Latvian populations are closely related not only by geography and language but also by the Y chromosome gene pool represented by forensic Y-STR markers. Consequently, more forensic Y-STR markers should be included in the Y-STR haplotype in order to achieve a resolution between the Y chromosomes of Lithuanian and Latvian males. Lithuanian Y-STR haplotype data were submitted to the 34th release of the Y-STR Haplotype Reference Database 3.0 for match probability calculations in the forensic casework.

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Y CHROMOSOME HAPLOGROUP R1a1a7 (М458) OF MODERN BELARUSIANS AND MIGRATIONS OF SLAV’S PREDECESSORS ON BELARUS TERRITORY

Ecological genetics ◽

10.17816/ecogen9144-52 ◽

2011 ◽

Vol 9 (1) ◽

pp. 44-52

Author(s):

Elena I Kushnerevich ◽

Larisa N Sivitskaya ◽

Anna V Bogacheva ◽

Svetlana A Kotova ◽

Iosif S Tsybovsky ◽

...

Keyword(s):

Eastern Europe ◽

Y Chromosome ◽

River Basin ◽

Gene Pool ◽

River Basins ◽

Chromosome Gene ◽

Data Point

Investigation of Y chromosome haplogroup R1a1a7 (М458) in ethnic Belarusians from six historic and ethnographic regions has shown that its frequency makes up 14% out of total Y chromosome gene pool diversity. Bearers of R1a1a7 (М458) are concentrated in Pripiat and Neman river basins which is in south and west of Belarus respectively. Expansion of R1a1a7 (М458) on the territory of present day Belarus was most probable associated with the distribution of agriculture in Eastern Europe. In addition, obtained data point to presence of later migration wave, Polab Slavs, for example, from Elba and Oder interfluves in Neman river basin at the border of I–II Millennia.

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Fertile females of the mole Talpa occidentalis are phenotypic intersexes with ovotestes

Development ◽

10.1242/dev.118.4.1303 ◽

1993 ◽

Vol 118 (4) ◽

pp. 1303-1311 ◽

Cited By ~ 1

Author(s):

R. Jimenez ◽

M. Burgos ◽

A. Sanchez ◽

A.H. Sinclair ◽

F.J. Alarcon ◽

...

Keyword(s):

Y Chromosome ◽

Sex Reversal ◽

Chromosome Gene ◽

Different Populations ◽

Testis Determining Gene

We investigated the origin of XX sex reversal in the insectivorous mole Talpa occidentalis. Cytogenetic, histological and hormonal studies indicate that all XX individuals analyzed from two different populations are true hermaphrodites, with ovotestes. This suggests that XX sex reversal may be the norm in this species. The intersexes are functional fertile females and the trait is transmitted and maintained in the population. Intersexes lack the Y chromosome gene SRY (sex determining region Y gene), shown to be the testis determining gene. These results suggest that XX intersex moles may have arisen from a mutation of a gene located downstream from SRY/TDY in the testis determining pathway.

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