Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe - PubMed (original) (raw)

Network of haplogroup I. The network was obtained by using the biallelic markers and six STR loci (DYS19, DYS388, DYS390, DYS391, DYS392, and DYS393) in 533 Hg I chromosomes from 34 populations (Andalusian, Basques [French and Spanish], Bearnais, French [southern France, Low Normandy, Lyon, and Poitier], Swiss, Dutch, Italian [northern Italy, central Italy, Calabria1, Calabria2 of Albanese origin, Apulia, and Sardinia], Croat, Bosnian, Albanian, Macedonian, Moldavian, Gagauz, Greek, Swedish, Norwegian, Saami, Estonian, Polish, Czech, Slovak, Hungarian, Ukrainian, Turkish, and Jewish). The phylogenetic relationships between the 58 microsatellite haplotypes (out of the 156 observed) with frequency >1 were determined by using the program NETWORK 4.0b (Fluxus Engineering Web site). Networks were calculated by the median-joining method (

ɛ=0

) (Bandelt et al. 1995), weighting the STR loci according to the average of their relative variability in the haplogroup I subclades and after having processed the data with the reduced-median method. Circles represent microsatellite haplotypes. Unless otherwise indicated by a number on the pie, the area of the circles and the area of the sectors are proportional to the haplotype frequency in the haplogroup (the smallest circle corresponds to two individuals) and in the geographic area indicated by the color. The inset reveals, in more detail, the relationship between I1b2 and I1b* in a subsample of 103 Y chromosomes from 20 populations. The network was determined as described above but, in this case, in addition to the above mentioned six STR loci, the YCAIIa, YCAIIb, and DYS389 microsatellites and the 49a,f system were also considered. Here, the smallest circle of the network corresponds to a single Y chromosome. Very stable YCAII motifs characterize both I1b* (YCAIIa-21/YCAIIb-21) and I1b2 (YCAIIa-21/YCAIIb-11), supporting the hypothesis that single-banded patterns and very short alleles are due to deletion events rather than stepwise mutations.