Retrotransposition of gene transcripts leads to structural variation in mammalian genomes.

ABSTRACT:

Background

Retroposed processed gene transcripts are an important source of material for new gene formation on evolutionary timescales. Most prior work on gene retrocopy discovery compared copies in reference genome assemblies to their source genes. Here, we explore gene retrocopy insertion polymorphisms (GRIPs) that are present in the germlines of individual humans, mice, and chimpanzees, and we identify novel gene retrocopy insertions in cancerous somatic tissues that are absent from patient-matched non-cancer genomes.

Results

Through analysis of whole-genome sequence data, we found evidence for 48 GRIPs in the genomes of one or more humans sequenced as part of the 1,000 Genomes Project and The Cancer Genome Atlas, but which were not in the human reference assembly. Simila

SUBMITTER: Ewing AD 

PROVIDER: S-EPMC3663115 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature