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首页> 外文期刊>Molecular and Cellular Biology >WISP3, the Gene Responsible for the Human Skeletal Disease Progressive Pseudorheumatoid Dysplasia, Is Not Essential for Skeletal Function in Mice
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WISP3, the Gene Responsible for the Human Skeletal Disease Progressive Pseudorheumatoid Dysplasia, Is Not Essential for Skeletal Function in Mice

机译：WISP3，负责人类骨骼疾病进行性假性风湿性发育不良的基因，对小鼠骨骼功能不是必需的

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摘要

In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number 208230). WISP3 encodes Wnt1-inducible signaling protein 3, a cysteine-rich, multidomain, secreted protein, whose paralogous CCN (connective tissue growth factor/cysteine-rich protein 61ephroblastoma overexpressed) family members have been implicated in diverse biologic processes including skeletal, vascular, and neural development. To understand the role of WISP3 in the skeleton, we targeted the Wisp3 gene in mice by creating a mutant allele comparable to that which causes human disease. We also created transgenic mice that overexpress human WISP3 in cartilage. Surprisingly, homozygous Wisp3 mutant mice appear normal and do not recapitulate any of the morphological, radiographic, or histological abnormalities seen in patients with PPD. Mice that overexpress WISP3 are also normal. We conclude, that in contrast to humans, Wisp3 is not an essential participant during skeletal growth or homeostasis in mice.
机译：在人类中， WISP3 的功能丧失突变导致常染色体隐性骨骼疾病进行性假性风湿性发育不良（PPD）（“曼德尔在线遗传”数据库208230）。 WISP3 编码Wnt1诱导型信号蛋白3，一种富含半胱氨酸，多结构域的分泌蛋白，其旁系CCN（结缔组织生长因子/富含半胱氨酸的蛋白61 /肾母细胞瘤过表达）家族成员已参与其中多种生物过程，包括骨骼，血管和神经发育。为了了解 WISP3 在骨骼中的作用，我们通过创建与人类疾病可比的突变等位基因，在小鼠中靶向了 Wisp3 基因。我们还创建了在软骨中过量表达人类WISP3的转基因小鼠。令人惊讶的是，纯合的 Wisp3 突变小鼠表现正常，没有概括PPD患者所见的任何形态学，放射学或组织学异常。过表达WISP3的小鼠也很正常。我们得出结论，与人类相反， Wisp3 在小鼠骨骼生长或体内稳态过程中不是必需的参与者。

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