MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX
MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX
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DOI：
10.1038/ng0495-358
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发表时间：
1995-04-01
期刊：
影响因子：
30.8
通讯作者：
ECCLES, MR
中科院分区：
文献类型：
--
作者：
SANYANUSIN, P;SCHIMMENTI, LA;ECCLES, MR
PAX基因在人类发育和疾病中起着重要作用。PAX2基因在肾脏、输尿管、眼睛、耳朵和中枢神经系统的原始细胞中表达。我们对一个患有视神经缺损、肾发育不良、轻度蛋白尿和膀胱输尿管反流的家系进行了PAX2突变分析。我们报告了外显子5中的单核苷酸缺失，导致了八肽结构域中PAX2编码区的框架移位。该家族中PAX2突变导致的表型与已报道的KRD突变小鼠的异常非常相似。这些数据表明，PAX2是正常肾脏和眼睛发育所必需的。
Paired box (PAX) genes play a critical role inhuman development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.