CANDIDATE GENE ASSOCIATED WITH A MUTATION CAUSING RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN MICE
CANDIDATE GENE ASSOCIATED WITH A MUTATION CAUSING RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN MICE
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DOI：
10.1126/science.8191288
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发表时间：
1994-05-27
期刊：
影响因子：
56.9
通讯作者：
WOYCHIK, RP
中科院分区：
文献类型：
--
作者：
MOYER, JH;LEETISCHLER, MJ;WOYCHIK, RP
产生了一种转基因小鼠系，其含有插入突变，导致类似于人类常染色体隐性多囊肾病的表型。纯合子表现出复杂的表型，包括双侧多囊肾和不寻常的肝脏病变。克隆了该突变位点，并利用该基因作为分子标记对其进行了鉴定。此外，还发现了一个候选多囊肾病（PKD）基因，其结构和表达与突变位点直接相关。来自该基因的互补DNA预测了一种肽，该肽含有最初在几个参与细胞周期控制的基因中发现的基序。
A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control.