ISOLATION AND CHARACTERIZATION OF A HUMAN LIVER CDNA AS A CANDIDATE GENE FOR WILSON DISEASE
ISOLATION AND CHARACTERIZATION OF A HUMAN LIVER CDNA AS A CANDIDATE GENE FOR WILSON DISEASE
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DOI：
10.1006/bbrc.1993.2471
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发表时间：
1993-11-30
影响因子：
3.1
通讯作者：
GITLIN, JD
中科院分区：
文献类型：
--
作者：
YAMAGUCHI, Y;HEINY, ME;GITLIN, JD
假定的铜和ATP结合域的人门克斯病基因被用作探针，以筛选人肝cDNA文库在降低严格性。将三级筛选后仍为阳性的65个克隆进行亚克隆和测序。这些cDNA克隆之一含有与Menkes蛋白具有65%氨基酸同源性的开放阅读框。Southern印迹分析将该cDNA定位于13号染色体上的Wilson病基因座区域。该cDNA检测7.5kB转录物，该转录物存在于人肝脏和缺乏Menkes转录物的细胞系中，并且在威尔逊病患者的肝脏中不存在。这些数据表明，该cDNA是威尔逊病的候选基因，并且在该位点编码的蛋白质是P型ATP酶家族的成员。
The putative copper and ATP-binding domains of the human Menkes disease gene were used as probes to screen a human liver cDNA library at reduced stringency. Sixty-five clones which remained positive after tertiary screening were subcloned and sequenced. One of these cDNA clones contains an open reading frame with 65% amino acid homology to the Menkes protein. Southern blot analysis localizes this cDNA to the region of the Wilson disease locus on chromosome 13. This cDNA detects a 7.5 kB transcript which is present in human liver and cell lines devoid of the Menkes transcript and which is absent in liver from a patient with Wilson disease. These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family.