Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function.
Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function.
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DOI：
10.1083/jcb.136.2.459
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发表时间：
1997-01-27
影响因子：
7.8
通讯作者：
Cheah, KSE
中科院分区：
文献类型：
--
作者：
Kwan, KM;Pang, MKM;Zhou, S;Cowan, SK;Kong, RYC;Pfordte, T;Olsen, BR;Sillence, DO;Tam, PPL;Cheah, KSE
关于胶原X是一种纯粹的结构分子，还是在软骨内骨化过程中调节骨矿化，存在着相互矛盾的观点。人胶原α1（X）基因（COL10A1）突变在施密德干骺端软骨发育不良（SMCD）中提示了支持作用。而小鼠胶原α1（X）基因（Col10a1）无效突变体未显示明显的表型改变。我们已经产生了胶原X缺陷小鼠，这表明缺乏确实具有部分类似于SMCD的表型后果，例如异常的骨小梁结构。特别是，突变小鼠发生髋内翻，这是人类SMCD中常见的表型变化。突变的其他后果是生长板静止区和关节软骨厚度的减少，骨含量的改变，以及生长板软骨内基质成分的非典型分布。我们建议，胶原蛋白X起着正常分布的基质囊泡和蛋白聚糖内的生长板基质中的作用。胶原X缺乏影响生长板的支持特性和矿化过程，导致骨小梁异常。这一假说将适应以前相互矛盾的观点的功能胶原X和SMCD的分子发病机制。
There are conflicting views on whether collagen X is a purely structural molecule, or regulates bone mineralization during endochondral ossification. Mutations in the human collagen α1(X) gene (COL10A1) in Schmid metaphyseal chondrodysplasia (SMCD) suggest a supportive role. But mouse collagen α1(X) gene (Col10a1) null mutants were previously reported to show no obvious phenotypic change. We have generated collagen X deficient mice, which shows that deficiency does have phenotypic consequences which partly resemble SMCD, such as abnormal trabecular bone architecture. In particular, the mutant mice develop coxa vara, a phenotypic change common in human SMCD. Other consequences of the mutation are reduction in thickness of growth plate resting zone and articular cartilage, altered bone content, and atypical distribution of matrix components within growth plate cartilage. We propose that collagen X plays a role in the normal distribution of matrix vesicles and proteoglycans within the growth plate matrix. Collagen X deficiency impacts on the supporting properties of the growth plate and the mineralization process, resulting in abnormal trabecular bone. This hypothesis would accommodate the previously conflicting views of the function of collagen X and of the molecular pathogenesis of SMCD.
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DOI：
10.1111/j.1432-1033.1993.tb17739.x
发表时间：
1993-04-01
期刊：
EUROPEAN JOURNAL OF BIOCHEMISTRY
影响因子：
--
作者：
KONG, RYC;KWAN, KM;CHEAH, KSE
通讯作者：
CHEAH, KSE
DOI：
10.1083/jcb.114.3.597
发表时间：
1991-08
期刊：
The Journal of cell biology
影响因子：
--
作者：
Kwan AP;Cummings CE;Chapman JA;Grant ME
通讯作者：
Grant ME
DOI：
10.1083/jcb.115.4.1171
发表时间：
1991-11
期刊：
The Journal of cell biology
影响因子：
--
作者：
Bonen DK;Schmid TM
通讯作者：
Schmid TM
影响因子：
3.5
作者：
KIRSCH, T;PFAFFLE, M
通讯作者：
PFAFFLE, M
DOI：
10.1016/0169-6009(91)90005-k
发表时间：
1991-11-01
期刊：
BONE AND MINERAL
影响因子：
--
作者：
HOYLAND, JA;THOMAS, JT;FREEMONT, AJ
通讯作者：
FREEMONT, AJ