一种纤维状胶原蛋白基因，即Col11a1，对骨骼形态发生至关重要。

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.

作者信息

Li Y, Lacerda D A, Warman M L, Beier D R, Yoshioka H, Ninomiya Y, Oxford J T, Morris N P, Andrikopoulos K, Ramirez F

机构信息

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115.

出版信息

Cell. 1995 Feb 10;80(3):423-30. doi: 10.1016/0092-8674(95)90492-1.

DOI:10.1016/0092-8674(95)90492-1

PMID:7859283

Abstract

Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the alpha 1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho alpha 1 (XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.

摘要

常染色体隐性软骨发育不良（cho）突变的纯合子小鼠在出生时死亡，其四肢、肋骨、下颌骨和气管的软骨存在异常。新生cho/cho小鼠的四肢骨骼在干骺端比正常骨骼更宽，长度仅约为正常的一半。通过连锁分析，cho基因和编码软骨胶原蛋白XI的α1（XI）链的基因被定位到3号染色体的同一区域。choα1（XI）mRNA翻译起始密码子下游约570 nt处的一个胞嘧啶残基缺失导致阅读框移位并引入提前终止密码子。数据表明，胶原蛋白XI对于软骨胶原纤维的正常形成和软骨的黏聚特性至关重要。结果还表明，生长板软骨细胞的正常分化和空间组织严重依赖于软骨细胞外基质中XI型胶原蛋白的存在。