지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 136 - 144 (9page)
이용수
초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (91)
참고문헌 신청
Lupski JR / 1998 / Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits / Trends Genet 14:417~422
Iafrate AJ / 2004 / Detection of large-scale variation in the human genome / Nat Genet 36:949~951
Sebat J / 2004 / Large-scale copy number polymorphism in the human genome / Science 305:525~528
Feuk L / 2006 / Structural variation in the human genome / Nat Rev Genet 7:85~97
Lee C / 2010 / The clinical context of copy number variation in the human genome / Expert Rev Mol Med 12:e8
Iafrate AJ / 2004 / Detection of large-scale variation in the human genome / Nat Genet 36:949~951
Sebat J / 2004 / Large-scale copy number polymorphism in the human genome / Science 305:525~528
Feuk L / 2006 / Structural variation in the human genome / Nat Rev Genet 7:85~97
Lee C / 2010 / The clinical context of copy number variation in the human genome / Expert Rev Mol Med 12:e8
이 논문의 저자 정보
최근 본 자료
댓글(0)
0