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人类I型胶原蛋白突变数据库。

The human type I collagen mutation database.

作者信息

Dalgleish R

机构信息

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.

出版信息

Nucleic Acids Res. 1997 Jan 1;25(1):181-7. doi: 10.1093/nar/25.1.181.

DOI:10.1093/nar/25.1.181
PMID:9016532
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC146420/
Abstract

Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha1(I) chains and one alpha2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html

摘要

I型胶原蛋白是胶原蛋白家族中含量最丰富且分布最广泛的蛋白质。它是一种异源三聚体，由两条α1（I）链和一条α2（I）链组成，这两条链分别由不连锁的基因座COL1A1和COL1A2编码。这些基因座的突变主要导致结缔组织疾病成骨不全以及VIIA和VIIB型埃勒斯-当洛综合征。两例骨质疏松症和一例马凡综合征也是这些基因座突变的结果。突变数据可在万维网上的http://www.le.ac.uk/depts/ge/collagen/collagen.html获取。

相似文献

1
The human type I collagen mutation database.人类I型胶原蛋白突变数据库。
Nucleic Acids Res. 1997 Jan 1;25(1):181-7. doi: 10.1093/nar/25.1.181.
2
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.由COL1A2基因第5内含子剪接受体位点的碱基替换导致的VIIB型埃勒斯-当洛综合征的临床特征。
J Med Genet. 1994 Apr;31(4):306-11. doi: 10.1136/jmg.31.4.306.
3
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
Hum Genet. 2000 Jan;106(1):19-28. doi: 10.1007/s004390051004.
4
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.由于COL1A1基因中甘氨酸替代导致的4例致死性成骨不全新病例。简讯第152号。在线发布。
Hum Mutat. 1998;12(1):71-2. doi: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4.
5
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.成骨不全患者中COL1A1或COL1A2突变类型与听力损失之间缺乏相关性。
Hum Mutat. 2004 Aug;24(2):147-54. doi: 10.1002/humu.20071.
6
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.VIIA 型和 VIIB 型埃勒斯-当洛综合征是由剪接连接突变或基因组缺失引起的，这些突变或缺失涉及 I 型胶原蛋白的 COL1A1 和 COL1A2 基因中的外显子 6。
Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o.
7
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.I-IV型成骨不全患者中的33种新的COL1A1和COL1A2突变
Hum Mutat. 2001 May;17(5):434. doi: 10.1002/humu.1124.
8
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.与I型或III型成骨不全症（OI）相关的COL1A1和COL1A2基因突变。
Acta Biochim Pol. 2018;65(1):79-86. doi: 10.18388/abp.2017_1612. Epub 2018 Mar 15.
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The Human Collagen Mutation Database 1998.人类胶原蛋白突变数据库，1998年。
Nucleic Acids Res. 1998 Jan 1;26(1):253-5. doi: 10.1093/nar/26.1.253.
10
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.成骨不全症I型胶原蛋白螺旋结构域突变联盟：富含致死性突变的区域与整合素和蛋白聚糖的胶原蛋白结合位点对齐。
Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429.

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本文引用的文献

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