통합 검색 | Korea Science

Chen, Lu;Zhou, Weichen;Zhang, Ling;Zhang, Feng
- Genomics & Informatics
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- 제12권4호
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- pp.136-144
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- 2014
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.
https://doi.org/10.5808/GI.2014.12.4.136 인용 PDF KSCI

Choi, Do-Il;Cho, Sung-Hwan;Goo, Dal-Hoe;Park, Hong-Seok;Hur, Cheol-Goo;Lee, Sang-Hyeob
- 한국유전체학회:학술대회논문집
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- 한국유전체학회 2006년도 The 15th Korean Genome Organization Conference KOGO 2006 Annual Meeting
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- pp.30-30
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- 2006
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