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α1（II）链C末端六个氨基酸的缺失导致II型和XI型胶原蛋白过度修饰：COL2A1小缺失与Kniest发育不良之间关联的进一步证据。

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

作者信息

Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B

机构信息

Children's Hospital, University of Mainz, Germany.

出版信息

J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649.

DOI:10.1136/jmg.33.8.649
PMID:8863156
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050698/
Abstract

We have identified an 18 bp deletion in exon 49 of the type II procollagen gene (COL2A1) in a patient with Kniest dysplasia. The deletion is located at the very C-terminus of the helical domain and removes two of three Gly-Pro-Pro triplets at positions 1007-1012, which are thought to be involved in helix formation and stability. Morphological investigation of an iliac crest biopsy showed large inclusions in the endoplasmic reticulum of chondrocytes, reflecting impaired secretion of type II collagen. Electrophoretic analysis of collagens extracted from cartilage or synthesised by cultured chondrocytes showed that type II and also type XI procollagen molecules containing mutant alpha 1 (II) chains showed post-translational overmodification. These observations provide further evidence for the general association of Kniest dysplasia with small deletions in the helical domain of type II collagen.

摘要

我们在一名患有克尼斯发育异常的患者中，鉴定出II型前胶原基因（COL2A1）第49外显子存在一个18bp的缺失。该缺失位于螺旋结构域的最C末端，去除了1007 - 1012位三个甘氨酸 - 脯氨酸 - 脯氨酸三联体中的两个，这些三联体被认为与螺旋形成和稳定性有关。髂嵴活检的形态学研究显示软骨细胞内质网中有大量包涵体，反映出II型胶原分泌受损。对从软骨中提取或由培养的软骨细胞合成的胶原进行电泳分析表明，含有突变α1（II）链的II型以及XI型前胶原分子显示出翻译后过度修饰。这些观察结果为克尼斯发育异常与II型胶原螺旋结构域中的小缺失普遍相关提供了进一步证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/b9e9f7cda7d3/jmedgene00262-0021-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/52208cf636c3/jmedgene00262-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/202a083376cb/jmedgene00262-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/d6bedb4bfa32/jmedgene00262-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/b9e9f7cda7d3/jmedgene00262-0021-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/52208cf636c3/jmedgene00262-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/202a083376cb/jmedgene00262-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/d6bedb4bfa32/jmedgene00262-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee0/1050698/b9e9f7cda7d3/jmedgene00262-0021-a.jpg

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本文引用的文献

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[Differential diagnosis between dysostosis enchondralis and chondrodystrophy].[内生软骨发育异常与软骨发育不良的鉴别诊断]
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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.由II型胶原基因（COL2A1）缺陷引起的Kniest和Stickler发育异常表型。
Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323.
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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。
Am J Hum Genet. 1994 Dec;55(6):1128-36.
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A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.II型胶原三螺旋中的单个氨基酸取代（G103D）会导致克尼斯发育不良。
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Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.一名患有Kniest发育不良的患者中，由于II型前胶原基因（COL2A1）突变导致的可变剪接。
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Supercoil sequencing: a fast and simple method for sequencing plasmid DNA.超螺旋测序：一种用于质粒DNA测序的快速简便方法。
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