Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
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DOI：
10.1016/j.ajhg.2010.04.016
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发表时间：
2010-06-11
影响因子：
9.8
通讯作者：
Wang, Cong-Yi
中科院分区：
文献类型：
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作者：
Pang, Junfeng;Zhang, Shu;Wang, Cong-Yi
以前，我们本地化的缺陷基因的urofacial综合征（UFS）的区域染色体10q24的纯合性拍打。我们现在报告的证据表明，乙酰肝素酶2（HPSE 2）是该综合征的罪魁祸首基因。在所有来自哥伦比亚、美国和法国的UFS患者中发现了乙酰肝素酶2（HPSE 2）基因功能丧失的突变。HPSE 2编码一个592个氨基酸的蛋白质，该蛋白质含有与乙酰肝素酶（HPSE）基因中的糖基水解酶基序显示序列同源性的结构域，但其确切的生物学功能尚未被表征。在UPS患者中HPSE 2功能的完全丧失表明HPSE 2可能对涉及面部表情和排尿的肌肉的协同作用是重要的。
Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity flapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE) gene, but its exact biological function has not yet been characterized, Complete loss of HPSE2 function in UPS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding.