Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
作者： Claudia MB Carvalho , Rolph Pfundt , Daniel A King , Sarah J Lindsay , Luciana W Zuccherato
DOI: 10.1016/J.AJHG.2015.01.021
关键词:
摘要: We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions copy-number-neutral absence heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due template switches between homologs versus sister chromatids using microhomology prime DNA replication—a prediction the replicative repair model, MMBIR. Our findings suggest replication-based mechanisms might underlie formation diverse types alterations (CGRs and AOH) implicated constitutional disorders.
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