The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

ABSTRACT: Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of deletion at the CMT1A-REP NAHR hotspot in sperm DNA from 34 male donors, including 16 monozygotic (MZ) co-twins (8 twin pairs) aged 24 to 67 years old. The average NAHR rate was 3.5 × 10(-5) with a seven-fold variation across individuals. Despite good statistical power to detect even a subtle correlation, we observed no relationship between age of unrelated individuals and the rate of NAHR in their sperm, likely reflecting the meiotic-specific origin of these events. We then esti

SUBMITTER: MacArthur JA 

PROVIDER: S-EPMC3945173 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature