Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
Year: 2021
Type: article
Abstract: BACKGROUND: Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurrent pathogenic CNVs harbor similar breakpoints in multiple unrelated individuals and are primarily formed via non-allelic homologous recombination (NAHR). Several pathogenic NAHR-mediated recurrent CNV loci demonstrate biases for parental origin of de novo CNVs. However, the mechanism underlying these biases is not well understood. METHODS: We performed a systematic, comprehensive literature search to curate parent of origin data for multiple pathogenic CNV loci. Using a regression framework, we assessed the relationship between parental CNV origin and the male to female recombination rate ratio. RESULTS: ). CONCLUSIONS: Our results suggest that parental origin of CNVs is largely influenced by sex-specific recombination rates and highlight the need to consider these differences when investigating mechanisms that cause structural variation.
Source: BMC Medical Genomics
Institution: Emory University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,590
Awards: Predoctoral Training Program in Genetics, G1357795530, G196810821, Modeling the Human Neuronal Phenotype of the Schizophrenia-Associated 3q29 deletion, G2289923368, Treasure Your Exceptions: Investigating Rare Diseases Using Whole-Genome Sequencing and Molecular Functional Studies, G4160209598, G7946976185, G9000046174
OpenAlex ID: W3167803013