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在人类低软骨生成症培养软骨细胞中鉴定出的II型胶原蛋白基因（COL2A1）突变的特征分析。

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

作者信息

Horton W A, Machado M A, Ellard J, Campbell D, Bartley J, Ramirez F, Vitale E, Lee B

机构信息

Department of Pediatrics, University of Texas Medical School, Houston 77225.

出版信息

Proc Natl Acad Sci U S A. 1992 May 15;89(10):4583-7. doi: 10.1073/pnas.89.10.4583.

DOI:10.1073/pnas.89.10.4583
PMID:1374906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC49127/
Abstract

A subtle mutation in the type II collagen gene COL2A1 was detected in a case of human hypochondrogenesis by using a chondrocyte culture system and PCR-cDNA scanning analysis. Chondrocytes obtained from cartilage biopsies were dedifferentiated and expanded in monolayer culture and then redifferentiated by culture over agarose. Single-strand conformation polymorphism and direct sequencing analysis identified a G----A transition, resulting in a glycine substitution at amino acid 574 of the pro alpha 1(II) collagen triple-helical domain. Morphologic assessment of cartilage-like structures produced in culture and electrophoretic analysis of collagens synthesized by the cultured chondrocytes suggested that the glycine substitution interferes with conversion of type II procollagen to collagen, impairs intracellular transport and secretion of the molecule, and disrupts collagen fibril assembly. This experimental approach has broad implications for the investigation of human chondrodysplasias as well as human chondrocyte biology.

摘要

通过使用软骨细胞培养系统和PCR - cDNA扫描分析，在一例人类低软骨生成症病例中检测到II型胶原基因COL2A1的一个细微突变。从软骨活检组织中获取的软骨细胞在单层培养中去分化并扩增，然后通过在琼脂糖上培养进行再分化。单链构象多态性和直接测序分析确定了一个G→A转换，导致原α1(II)胶原三螺旋结构域的第574位氨基酸处的甘氨酸被取代。对培养中产生的软骨样结构的形态学评估以及对培养的软骨细胞合成的胶原的电泳分析表明，甘氨酸取代干扰了II型前胶原向胶原的转化，损害了该分子的细胞内运输和分泌，并破坏了胶原纤维的组装。这种实验方法对人类软骨发育不全以及人类软骨细胞生物学的研究具有广泛的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/a6975b99bf8a/pnas01084-0376-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/6971c23378f2/pnas01084-0375-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/bfeed1765b31/pnas01084-0376-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/c804130dc6b2/pnas01084-0376-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/a6975b99bf8a/pnas01084-0376-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/6971c23378f2/pnas01084-0375-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/bfeed1765b31/pnas01084-0376-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/c804130dc6b2/pnas01084-0376-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/575f/49127/a6975b99bf8a/pnas01084-0376-c.jpg

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本文引用的文献

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Dedifferentiated chondrocytes reexpress the differentiated collagen phenotype when cultured in agarose gels.去分化软骨细胞在琼脂糖凝胶中培养时会重新表达分化型胶原蛋白表型。
Cell. 1982 Aug;30(1):215-24. doi: 10.1016/0092-8674(82)90027-7.
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Pathogenic mechanisms in osteochondrodysplasias.骨软骨发育异常的致病机制。
J Bone Joint Surg Am. 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002.
3
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.I型前胶原链的细微结构改变会导致II型成骨不全症。
RB1CC1 蛋白抑制软骨细胞中 II 型胶原蛋白的合成，并导致侏儒症。
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A bit of give and take: the relationship between the extracellular matrix and the developing chondrocyte.相互作用：细胞外基质与发育中的软骨细胞之间的关系。
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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.五例新发现的和一例复发性COL2A1突变报告及致死性II型胶原病患者基因型-表型相关性分析
J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263.
6
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Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.来自两名患Kniest发育不良的无关个体的II型胶原蛋白中7个氨基酸缺失在软骨中的表达。
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10
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.一个具有假性软骨发育不全和多发性骨骺发育异常特征的大家庭：排除七个编码软骨细胞外基质蛋白的候选基因位点。
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Collagen defects in lethal perinatal osteogenesis imperfecta.致死性围生期成骨不全中的胶原蛋白缺陷
Biochem J. 1986 Dec 15;240(3):699-708. doi: 10.1042/bj2400699.
5
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.1型朗格-萨尔迪诺软骨发育不全病例中软骨II型胶原蛋白的无表达
Am J Hum Genet. 1986 Jul;39(1):52-67.
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In vitro morphogenesis of chick embryo hypertrophic cartilage.鸡胚肥大软骨的体外形态发生
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Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.II型软骨发育不全-低软骨发育不全：异常II型胶原蛋白的鉴定。
Am J Hum Genet. 1988 Dec;43(6):904-13.
9
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.II型软骨发育不全-低软骨发育不全：形态学和免疫组织病理学研究
Am J Hum Genet. 1988 Dec;43(6):894-903.
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Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.软骨发育不全中的II型胶原蛋白缺陷。I. 脊椎骨骺发育不良。
Am J Hum Genet. 1989 Jul;45(1):5-15.