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.
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。
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本文引用的文献
1
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.III型成骨不全症：I型胶原蛋白结构基因COL1A1和COL1A2中的突变不一定是致病原因。
J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492.
2
Perinatal lethal osteogenesis imperfecta.围产期致死性成骨不全症
J Med Genet. 1995 Apr;32(4):284-9. doi: 10.1136/jmg.32.4.284.
3
The collagen superfamily.胶原超家族
Int Arch Allergy Immunol. 1995 Aug;107(4):484-90. doi: 10.1159/000237090.
4
Collagens: molecular biology, diseases, and potentials for therapy.胶原蛋白：分子生物学、疾病及治疗潜力
Annu Rev Biochem. 1995;64:403-34. doi: 10.1146/annurev.bi.64.070195.002155.
5
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.围产期致死型成骨不全症中胶原蛋白基因的内部缺失。
Nature. 1983;304(5921):78-80. doi: 10.1038/304078a0.
6
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.成骨不全症：克隆出带有移码突变的前α2（I）型胶原蛋白基因。
J Biol Chem. 1984 Nov 10;259(21):12941-4.
7
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.内含子介导的重组可能在致死型成骨不全中导致α1 型 I 型胶原链的缺失。
Proc Natl Acad Sci U S A. 1985 May;82(9):2870-4. doi: 10.1073/pnas.82.9.2870.
8
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
J Biol Chem. 1985 Jan 25;260(2):691-4.
9
Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1).
Gene. 1988 Jul 15;67(1):105-15. doi: 10.1016/0378-1119(88)90013-3.
10
Brittle bones--fragile molecules: disorders of collagen gene structure and expression.
Trends Genet. 1990 Sep;6(9):293-300. doi: 10.1016/0168-9525(90)90235-x.
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