Details

Autor(en) / Beteiligte

• Anagnostou, Paolo
• Dominici, Valentina
• Battaggia, Cinzia
• Lisi, Alessandro
• Sarno, Stefania
• Boattini, Alessio
• Calò, Carla
• Francalacci, Paolo
• Vona, Giuseppe
• Tofanelli, Sergio
• Vilar, Miguel G
• Colonna, Vincenza
• Pagani, Luca
• Destro Bisol, Giovanni
• Wang, Heming

Titel

Inter-individual genomic heterogeneity within European population isolates

Ist Teil von

• PloS one, 2019-10, Vol.14 (10), p.e0214564-e0214564

Ort / Verlag

United States: Public Library of Science

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• A number of studies carried out since the early '70s has investigated the effects of isolation on genetic variation within and among human populations in diverse geographical contexts. However, no extensive analysis has been carried out on the heterogeneity among genomes within isolated populations. This issue is worth exploring since events of recent admixture and/or subdivision could potentially disrupt the genetic homogeneity which is to be expected when isolation is prolonged and constant over time. Here, we analyze literature data relative to 87,815 autosomal single-nucleotide polymorphisms, which were obtained from a total of 28 European populations. Our results challenge the traditional paradigm of population isolates as structured as genetically (and genomically) uniform entities. In fact, focusing on the distribution of variance of intra-population diversity measures across individuals, we show that the inter-individual heterogeneity of isolated populations is at least comparable to the open ones. More in particular, three small and highly inbred isolates (Sappada, Sauris and Timau in Northeastern Italy) were found to be characterized by levels of inter-individual heterogeneity largely exceeding that of all other populations, possibly due to relatively recent events of genetic introgression. Finally, we propose a way to monitor the effects of inter-individual heterogeneity in disease-gene association studies.