Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA).

ABSTRACT:

Background

Mobile element insertions are a major source of human genomic variation. SVA (SINE-R/VNTR/Alu) is the youngest retrotransposon family in the human genome and a number of diseases are known to be caused by SVA insertions. However, inter-individual genomic variations generated by SVA insertions and their impacts have not been studied extensively due to the difficulty in identifying polymorphic SVA insertions.

Results

To systematically identify SVA insertions at the population level and assess their genomic impact, we developed a mobile element scanning (ME-Scan) protocol we called ME-Scan-SVA. Using a nested SVA-specific PCR enrichment method, ME-Scan-SVA selectively amplify the 5' end of SVA elements and their flanking genomic regions. To demonstrate the utility of

SUBMITTER: Ha H 

PROVIDER: S-EPMC4967303 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature