Article
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Human molecular genetics - 15 Jul 2015
Gu Shen, Yuan Bo, Campbell Ian M, Beck Christine R, Carvalho Claudia M B, Nagamani Sandesh C S, Erez Ayelet, Patel Ankita, Bacino Carlos A, Shaw Chad A, Stankiewicz Paweł, Cheung Sau Wai, Bi Weimin, Lupski James R
Abstract excerpt
Alu repetitive elements are known to be major contributors to genome instability by generating Alu-mediated copy-number variants (CNVs). Most of the reported Alu-mediated CNVs are simple deletions and duplications, and the mechanism underlying Alu-Alu-mediated rearrangement has been attributed to non-allelic homologous recombination (NAHR). Chromosome 17 at the p13.3 genomic region lacks extensive low-copy repeat...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.