title: Genome architecture and its roles in human copy number variation.
abstract: Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various genomic features and discuss their contributions to CNV formation. Genomic repeats, including both low-copy and high-copy repeats, play important roles in CNV instability, which was initially known as DNA recombination events. Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. Our review highlights that genome architecture, from DNA sequence to high-order genomic organization, is an important molecular factor in CNV mutagenesis and human genomic instability.
authors.affiliation: School of Life Sciences, Fudan University, Shanghai 200438, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Chen
authors.affiliation: School of Life Sciences, Fudan University, Shanghai 200438, China.
authors.forename: Weichen
authors.initials: W
authors.lastname: Zhou
authors.affiliation: School of Life Sciences, Fudan University, Shanghai 200438, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
authors.affiliation: School of Life Sciences, Fudan University, Shanghai 200438, China. ; Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai 200438, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
keywords: DNA copy number variations; DNA replication; genetic recombination; genomic instability