ID
45512
Description
Principal Investigator: William Burkholder, Microfluidics Systems Biology Lab, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore, Republic of Singapore MeSH: Molecular Structure https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000732 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 (LD) with their surrounding genomic regions and that they were well-tagged by SNPs. However, L1 variants were only partially captured by SNPs on standard SNP arrays, so that their potential phenotypic impact would be frequently missed by SNP array-based genome-wide association studies. We next identified potential phenotypic effects of L1s by looking for signatures of natural selection linked to L1 insertions; significant extended haplotype homozygosity (EHH) was detected around several L1 insertions. This suggests that some of these L1 insertions may have been the target of recent positive selection.
Link
Keywords
Versions (1)
- 12/13/22 12/13/22 - Simon Heim
Copyright Holder
William Burkholder, Microfluidics Systems Biology Lab, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore, Republic of Singapore
Uploaded on
December 13, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000732 L1-seq and genome-wide SNP genotyping in a multiethnic Asian population
Subject - Consent Information
Similar models
Subject - Consent Information
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])