Microsatellite data support subpopulation structuring among Basques

Abstract

Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipu´zcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Vizcaya provinces were also examined using hierarchal analysis of molecular variance (AMOVA) and genetic admixture estimations to ascertain whether the Basques are genetically heterogeneous. To assess the genetic position of Basques in a broader geographic context, we conducted phylogenetic analyses based on F ST genetic distances [neighbor-joining trees and multidimensional scaling (MDS)] using data compiled in previous publications. The genetic profile of the Basque groups revealed distinctive regional partitioning of short tandem repeat (STR) diversity. Consistent with the above, native Basques clearly segregated from other populations from Europe (including Spain), North Africa, and the Middle East. The main line of genetic discontinuity inferred from the spatial variability of the microsatellite diversity in Basques significantly overlapped the geographic distribution of the Basque language. The genetic heterogeneity among native Basque groups correlates with the peculiar geography of peopling and marital structure in rural Basque zones and with language boundaries resulting from the uneven impact of Romance languages in the different Basque territories.

Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs

“…These results were similar to those of the other isolated populations previously reported. 13,[73][74][75] Lower gene diversity of Deng (0.7218) further accentuated the effect of the inbreeding among them. Therefore, we indicated that Deng might have developed from very few founders, and been isolated from the neighboring Adi and Tibetans for quite long time.…”

Paternal Genetic History of the Basque Population of Spain

“…In the biological anthropology literature, the Basque population has been studied using craniometrics (Broca 1864;Calafell and Bertranpetit 1994), linguistics (Trask 1997), blood group antigens (Boyd and Boyd 1937;Chalmers et al 1948;Chalmers et al 1949;Etcheverry 1945;Levine 1977;Levine et al 1974;MacClancy 1993;Mourant 1948), erythrocytic enzymes (Aguirre et al 1989;Aguirre et al 1991;Manzano et al 1996), plasma proteins (Manzano et al 1993), HLA antigens and haplotypes (Calderon et al 1998;Dugoujon et al 1989;Esteban et al 1998;Hazout et al 1991), autosomal STRs (Alonso et al 1995;Arrieta et al 1997;Garcia et al 1998;Garcia et al 2001;Iriondo et al 1997;Iriondo et al 1999;Perez-Lezaun et al 2000;Perez-Miranda et al 2005a;Perez-Miranda et al 2005b;Zlojutro et al 2006), mitochondrial haplogroups and sequences (Alfonso-Sanchez et al 2008;Alzualde et al 2006;Alzualde et al 2005;Bertranpetit et al 1995;Corte-Real et al 1996;Garcia et al 2011;Gonzalez et al 2003;Gonzalez et al 2006;Izagirre and de la Rua 1999), and Y-chromosome markers …”

A comprehensive analysis of microsatellite diversity in Aboriginal Australians

“…Several studies have shown, however, that when a reasonably large number of microsatellites are scored the inferences from those samples, even at the worldwide level, are sound (Bowcock et al 1994;Jorde et al 2000;Rosenberg et al 2002;Ayub et al 2003;Zhivotovsky et al 2003;Shepard et al 2005;Zabala Fernandez et al 2005). For examining structure and variation within a single population or ethnic group they may be the marker of choice Destro-Bisol et al 2000;Perez-Miranda et al 2005;Li et al 2006). This study of structure and variation among Australian Aboriginals using fifteen autosomal microsatellites fulfils these requirements.…”