Genome Architecture and Its Roles in Human Copy Number Variation
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 betw...
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| Format: | Article |
| Language: | English |
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BioMed Central
2014-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-12-136.pdf |
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| author | Lu Chen Weichen Zhou Ling Zhang Feng Zhang |
| author_facet | Lu Chen Weichen Zhou Ling Zhang Feng Zhang |
| author_sort | Lu Chen |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-011bcd57a5f141648f2a40a4523d4fa0 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2014-12-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-011bcd57a5f141648f2a40a4523d4fa02025-02-02T07:31:43ZengBioMed CentralGenomics & Informatics1598-866X2234-07422014-12-0112413614410.5808/GI.2014.12.4.13697Genome Architecture and Its Roles in Human Copy Number VariationLu Chen0Weichen Zhou1Ling Zhang2Feng Zhang3School of Life Sciences, Fudan University, Shanghai 200438, China.School of Life Sciences, Fudan University, Shanghai 200438, China.School of Life Sciences, Fudan University, Shanghai 200438, China.School of Life Sciences, Fudan University, Shanghai 200438, China.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.http://genominfo.org/upload/pdf/gni-12-136.pdfDNA copy number variationsDNA replicationgenetic recombinationgenomic instability |
| spellingShingle | Lu Chen Weichen Zhou Ling Zhang Feng Zhang Genome Architecture and Its Roles in Human Copy Number Variation Genomics & Informatics DNA copy number variations DNA replication genetic recombination genomic instability |
| title | Genome Architecture and Its Roles in Human Copy Number Variation |
| title_full | Genome Architecture and Its Roles in Human Copy Number Variation |
| title_fullStr | Genome Architecture and Its Roles in Human Copy Number Variation |
| title_full_unstemmed | Genome Architecture and Its Roles in Human Copy Number Variation |
| title_short | Genome Architecture and Its Roles in Human Copy Number Variation |
| title_sort | genome architecture and its roles in human copy number variation |
| topic | DNA copy number variations DNA replication genetic recombination genomic instability |
| url | http://genominfo.org/upload/pdf/gni-12-136.pdf |
| work_keys_str_mv | AT luchen genomearchitectureanditsrolesinhumancopynumbervariation AT weichenzhou genomearchitectureanditsrolesinhumancopynumbervariation AT lingzhang genomearchitectureanditsrolesinhumancopynumbervariation AT fengzhang genomearchitectureanditsrolesinhumancopynumbervariation |