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首页> 外文期刊>Molecular and Cellular Biology >Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development
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Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development

机译：Matrilin-3对于小鼠骨骼生长和发育是必不可少的

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Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to autosomal dominant skeletal disorders, such as multiple epiphyseal dysplasia (MED), which is characterized by short stature and early-onset osteoarthritis, and bilateral hereditary microepiphyseal dysplasia, a variant form of MED characterized by pain in the hip and knee joints. To assess the function of matrilin-3 during skeletal development, we have generated Matn-3 null mice. Homozygous mutant mice appear normal, are fertile, and show no obvious skeletal malformations. Histological and ultrastructural analyses reveal endochondral bone formation indistinguishable from that of wild-type animals. Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family. Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM.
机译：Matrilin-3属于细胞外基质（ECM）蛋白的matrilin家族，主要在软骨中表达。编码人类matrilin-3（ MATN-3 ）的基因中的突变会导致常染色体显性骨骼疾病，例如多发性骨（发育异常（MED），其特征是身材矮小和早发性骨关节炎，以及双侧遗传性微表皮发育异常，一种以髋关节和膝关节疼痛为特征的MED变体形式。为了评估matrilin-3在骨骼发育过程中的功能，我们生成了 Matn-3 空小鼠。纯合突变小鼠看起来正常，可育，并且没有明显的骨骼畸形。组织学和超微结构分析表明，软骨内骨的形成与野生动物没有区别。 Northern印迹，免疫组织化学和生化分析表明，基质胶家族的任何其他成员均没有补偿性上调。总的来说，我们的发现表明马瑞林之间的功能冗余，并证明MED疾病的表型不是由软骨ECM中缺少马瑞林3引起的。

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