Prokr2-Deficient Mice Display Vascular Dysmorphology of the Fetal Testes: Potential Implications for Kallmann Syndrome Aetiology.
Prokr2-Deficient Mice Display Vascular Dysmorphology of the Fetal Testes: Potential Implications for Kallmann Syndrome Aetiology.
复制标题
Prokr2 缺陷小鼠在胎儿测试中表现出血管畸形：对卡尔曼综合征病因学的潜在影响。
作者：
藤原清悦;舩橋利也;明間立雄;Svingen T
卡尔曼综合征是一种促性腺激素减退症，也与嗅觉丧失有关。这是一种表型和遗传异质性疾病，几个已知致病基因的突变现在约占病例的30%。这种疾病在男性中的患病率也远远高于女性，这一现象仍有待充分解释。在这里，我们发现与常染色体隐性遗传性Kallmann综合征3型(KAL3；OMIM 244200)相关的PROKR2基因缺失会影响小鼠胎儿睾丸的分化。我们发现，在性别决定和胎儿性别分化过程中，PROKR2在XY性腺中特异表达，基因敲除小鼠在胎儿睾丸中显示出不同程度的血管系统受损。这种表型提供了对家族性病例中观察到的临床异质性的潜在洞察力，并可能有助于Kallmann综合征患者的性别偏见。
Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in females, a phenomenon that remains to be fully explained. Here, we show that loss of Prokr2, which is linked to autosomal recessive Kallmann syndrome type 3 (KAL3; OMIM 244200), affects fetal testis differentiation in mice. We find that Prokr2 is specifically expressed in the XY gonads during sex determination and fetal sexual differentiation, and knockout mice display a variable degree of compromised vasculature in the fetal testes. This phenotype offers potential insight into the clinical heterogeneity observed within familial cases, and may contribute to the gender bias in Kallmann syndrome patients.