Expression and cloning of the human X-linked hypophosphatemia gene cDNA
Expression and cloning of the human X-linked hypophosphatemia gene cDNA
复制标题
DOI：
10.1006/bbrc.1997.6153
复制
发表时间：
1997-02-24
影响因子：
3.1
通讯作者：
Schlessinger, D
中科院分区：
文献类型：
--
作者：
Grieff, M;Mumm, S;Schlessinger, D
X连锁低磷血症（XLH）是一种遗传性代谢性骨病，其生化特征为选择性肾磷酸盐（Pi）消耗，与PEX（与X染色体上的内肽酶同源的磷酸盐调节基因）基因突变相关。为了进一步探索PEX的生理作用并确定其在XLH中的作用，我们测定了PEX的表达和组织分布。北方分析发现，丰富的PEX mRNA在一个有限的模式，主要是在成人卵巢和胎儿肺。此外，PEX在成人肺和胎肝中也有表达。从人卵巢cDNA文库中克隆到一个含PEX基因全长2550个碱基的cDNA。PEX cDNA与其他膜结合锌金属肽酶具有很高的同源性。PEX在非骨组织中的存在强烈表明其在骨发育中的系统作用，而不是独特的功能。(C)北京：科学出版社.
X-linked hypophosphatemia (XLH), which is a heritable metabolic bone disease characterized biochemically by selective renal phosphate (Pi) wasting, is associated with mutations in the PEX (Phosphate-regulating gene with homologies to Endopeptidases on the X-chromosome) gene. To further explore the physiologic role of PEX and define its effect in XLH we have determined the expression and tissue distribution. Northern analysis found abundant PEX mRNA in a restricted pattern, predominantly in adult ovary and fetal lung. In addition, PEX expression was also found in adult lung and fetal liver. A PEX cDNA of 2550 basepairs, which contains the full PEX coding region, was isolated from a human ovary cDNA library. The PEX cDNA shows high homology to other membrane-bound zinc metallopeptidases. The presence of PEX in non-osseous tissues strongly suggests features of a systemic role, rather than a unique function in bone development. (C) 1997 Academic Press.