THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE
THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE
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DOI：
10.1038/ng1293-327
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发表时间：
1993-12-01
期刊：
影响因子：
30.8
通讯作者：
COX, DW
中科院分区：
文献类型：
--
作者：
BULL, PC;THOMAS, GR;COX, DW
Wilson病（WD）是一种常染色体隐性遗传的铜转运障碍，导致铜蓄积和肝、脑毒性。该基因（WD）已定位于染色体13 q14.3。在该区域的酵母人工染色体上，我们已经确定了一个序列，类似于门克斯病中假定ATP酶基因（MNK）缺陷的铜结合区的编码。我们表明，这个序列的形式的一部分，aP型ATP酶基因（这里称为WC1），这是非常相似的MNK，与6个推定的金属结合区类似的原核重金属转运蛋白中发现的。该基因在肝脏和肾脏中表达，位于可能包括WD基因座的300 kb区域内。两名WD患者被发现是纯合子的7个碱基缺失内。Wc1的编码区。Wc1被认为是WD的致病基因。
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to chromosome 13 q14.3. On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease. We show that this sequence forms part of aP-type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters. The gene, expressed in liver and kidney, lies within a 300 kb region likely to include the WD locus. Two WD patients were found to be homozygous for a seven base deletion within the. coding region of Wc1. Wc1 is proposed as the gene for WD.