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Evolutionary and functional impact of common polymorphic inversions in the human genome.

Abstract：

:Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1-415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.

journal_name

Nat Commun

journal_title

Nature communications

authors

Giner-Delgado C,Villatoro S,Lerga-Jaso J,Gayà-Vidal M,Oliva M,Castellano D,Pantano L,Bitarello BD,Izquierdo D,Noguera I,Olalde I,Delprat A,Blancher A,Lalueza-Fox C,Esko T,O'Reilly PF,Andrés AM,Ferretti L,Puig M,Cáce

doi

10.1038/s41467-019-12173-x

subject

Has Abstract

pub_date

2019-09-17 00:00:00

pages

4222

issue

1

issn

2041-1723

pii

10.1038/s41467-019-12173-x

journal_volume

10

pub_type

杂志文章

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