Interlocus gene conversion explains at least 2.7% of single nucleotide variants in human segmental duplications.

ABSTRACT:

Background

Interlocus gene conversion (IGC) is a recombination-based mechanism that results in the unidirectional transfer of short stretches of sequence between paralogous loci. Although IGC is a well-established mechanism of human disease, the extent to which this mutagenic process has shaped overall patterns of segregating variation in multi-copy regions of the human genome remains unknown. One expected manifestation of IGC in population genomic data is the presence of one-to-one paralogous SNPs that segregate identical alleles.

Results

Here, I use SNP genotype calls from the low-coverage phase 3 release of the 1000 Genomes Project to identify 15,790 parallel, shared SNPs in duplicated regions of the human genome. My approach for identifying these sites accounts for the p

SUBMITTER: Dumont BL 

PROVIDER: S-EPMC4467073 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature