Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

被引:3
作者
Maceda, Iago [1 ,2 ,3 ]
Alvarez, Miguel Martin [4 ]
Athanasiadis, Georgios [5 ]
Tonda, Raul [1 ,2 ,3 ]
Camps, Jordi [1 ,2 ,3 ]
Beltran, Sergi [1 ,2 ,3 ]
Camps, Agusti [6 ]
Fabrega, Jordi [7 ]
Felisart, Josefina [8 ]
Grane, Joan [9 ]
Remon, Jose Luis [10 ]
Serra, Jordi [11 ]
Moral, Pedro [4 ]
Lao, Oscar [1 ,2 ,3 ]
机构
[1] Ctr Genom Regulat, CRG, CNAG, C Baldiri & Reixach 4, Barcelona 08028, Spain
[2] Barcelona Inst Sci & Technol BIST, Barcelona, Spain
[3] Univ Pompeu Fabra UPF, Barcelona, Spain
[4] Univ Barcelona, Fac Biol, Biodivers Res Inst, Dept Evolutionary Biol Ecol & Environm Sci, Barcelona 08028, Spain
[5] Mental Hlth Serv, Sct Hans, Inst Biol Psychiat, Roskilde, Denmark
[6] Hosp St Bernabe, Ctra Ribes 47, Barcelona 08600, Spain
[7] Fundacio St Hosp La Seu dUrgell, Pg Joan Brudieu 8, La Seu Durgell, Lleida, Spain
[8] Hosp Olot & Comarcal Garrotxa, Avda Paisos Catalans 86, Olot 17800, Girona, Spain
[9] Hosp Campdevanol, Ctra Gombren 20, Campdevanol 17530, Girona, Spain
[10] Inst Catala Salut, Gerencia Terr Alt Pirineu & Aran, Serv Atencio Primaria Lleida Nord, C Sant Jordi 13, Tremp 25620, Lleida, Spain
[11] Hosp Comarcal Pallars, Lab Anal Clin, C Pau Casals 5, Tremp 25500, Lleida, Spain
关键词
HOMOZYGOSITY; ASSOCIATION; CHROMOSOME; FRAMEWORK; PATTERNS; DISEASE;
D O I
10.1038/s41431-021-00875-0
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher patterns of consanguinity of the region. Previous genetic studies suggest a gradient of genetic continuity of the area in the West to East axis. However, it has been shown that micro-population substructure can be detected when considering high-quality NGS data and using spatial explicit methods. In this work, we have analyzed the genome of 30 individuals sequenced at 40x from five different valleys in the Spanish Eastern Pyrenees (SEP) separated by less than 140 km along a west to east axis. Using haplotype-based methods and spatial analyses, we have been able to detect micro-population substructure within SEP not seen in previous studies. Linkage disequilibrium and autozygosity analyses suggest that the SEP populations show diverse demographic histories. In agreement with these results, demographic modeling by means of ABC-DL identify heterogeneity in their effective population sizes despite of their close geographic proximity, and suggests that the population substructure within SEP could have appeared around 2500 years ago. Overall, these results suggest that each rural population of the Pyrenees could represent a unique entity.
引用
收藏
页码:1557 / 1565
页数:9
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