Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.

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作者信息

Steinmann B, Superti-Furga A, Royce P M

机构信息

Department of Pediatrics, University of Zurich, Switzerland.

出版信息

Ann N Y Acad Sci. 1988;543:47-61. doi: 10.1111/j.1749-6632.1988.tb55315.x.

DOI:10.1111/j.1749-6632.1988.tb55315.x

PMID:3063164

Abstract

摘要

相似文献

Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.

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Copolymerization of normal type I collagen with three mutated type I collagens containing substitutions of cysteine at different glycine positions in the alpha 1 (I) chain.正常I型胶原蛋白与三种突变I型胶原蛋白的共聚反应，这三种突变I型胶原蛋白在α1（I）链的不同甘氨酸位置含有半胱氨酸替代物。

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.由于I型胶原蛋白COL1A2基因突变的亲代嵌合体导致致死性成骨不全复发。嵌合亲代表现出该疾病轻度形式的表型特征。

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Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.I型前胶原α1（I）链三螺旋中甘氨酸-220被天冬氨酸取代以及甘氨酸-664被精氨酸取代，会导致致死性成骨不全，并破坏胶原纤维结合结晶性羟基磷灰石的能力。

Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):815-20. doi: 10.1042/bj3110815.

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.一种骨质减少性非骨折综合征，具有轻度成骨不全的特征，与I型胶原蛋白α1（I）链三螺旋位置43处的半胱氨酸替代甘氨酸有关。

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引用本文的文献

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Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.与COL1A2相关且与I型胶原分子结构缺陷有关的成骨不全症的临床变异性。

J Med Genet. 1989 Jun;26(6):358-62. doi: 10.1136/jmg.26.6.358.

Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.

Eur J Pediatr. 1990 Mar;149(6):403-5. doi: 10.1007/BF02009659.

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.在一名患有致死性成骨不全症的先证者中，I型前胶原α1(I)链中甘氨酸-α1-691被半胱氨酸替代，使得三股螺旋在替代位点的C端不稳定。

Biochem J. 1991 Nov 1;279 ( Pt 3)(Pt 3):747-52. doi: 10.1042/bj2790747.

Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

J Inherit Metab Dis. 1991;14(2):189-201. doi: 10.1007/BF01800591.

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