RT Journal Article
SR Electronic
T1 Overcoming the dichotomy: new insights into the genomic diversity of open and isolated European populations
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 067850
DO 10.1101/067850
A1 Paolo Anagnostou
A1 Valentina Dominici
A1 Cinzia Battaggia
A1 Luca Pagani
A1 Miguel Vilar
A1 Spencer Wells
A1 Davide Pettener
A1 Stefania Sarno
A1 Alessio Boattini
A1 Paolo Francalacci
A1 Vincenza Colonna
A1 Giuseppe Vona
A1 Carla Calò
A1 Giovanni Destro Bisol
A1 Sergio Tofanelli
YR 2016
UL http://biorxiv.org/content/early/2016/08/05/067850.abstract
AB Human populations are often dichotomized into “isolated” and “open” using cultural and/or geographical barriers to gene flow as differential criteria. Although widespread, the use of these alternative categories could obscure further heterogeneity due to inter-population differences in effective size, growth rate, and timing or amount of gene flow. We compared intra and interpopulation variation measures combining novel and literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic and/or linguistic European isolates. Patterns of intra-population diversity were found to vary significantly more among isolates, probably due to differential levels of drift and inbreeding. The relatively large effective size estimated for some population isolates challenges the generalized view that they originate from small founding groups. Principal component scores based on measures of intra-population variation of isolated and open populations turned out to be distributed along a sort of continuum, with an area of intersection between the two groups. Patterns of inter-population diversity were even closer, as we were able to detect some differences between population groups only for a few multidimensional scaling dimensions. Therefore, different lines of evidence suggest that dichotomizing human populations into open and isolated fails to capture the actual relations among their genomic features.