Ontology highlight
ABSTRACT:
SUBMITTER: Kuhn A
PROVIDER: S-EPMC4050588 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Kuhn Alexandre A Ong Yao Min YM Cheng Ching-Yu CY Wong Tien Yin TY Quake Stephen R SR Burkholder William F WF
Proceedings of the National Academy of Sciences of the United States of America 20140520 22
Insertions of the human-specific subfamily of LINE-1 (L1) retrotransposon are highly polymorphic across individuals and can critically influence the human transcriptome. We hypothesized that L1 insertions could represent genetic variants determining important human phenotypic traits, and performed an integrated analysis of L1 elements and single nucleotide polymorphisms (SNPs) in several human populations. We found that a large fraction of L1s were in high linkage disequilibrium with their surro ...[more]