Hereditary pancreatitis caused by triplication of the trypsinogen locus
Hereditary pancreatitis caused by triplication of the trypsinogen locus
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DOI：
10.1038/ng1904
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发表时间：
2006-12-01
期刊：
影响因子：
30.8
通讯作者：
Ferec, Claude
中科院分区：
文献类型：
--
作者：
Le Marechal, Cedric;Masson, Emmanuelle;Ferec, Claude
据报道，遗传性胰腺炎是由阳离子胰蛋白酶原基因（PRSS1）的“功能获得”错义突变引起的。在这里，我们报告了在5个遗传性胰腺炎家族中，7号染色体上含有类似605-kb的PRSS1基因片段的三倍扩增。这种三次复制似乎通过基因剂量效应导致胰蛋白酶的增加，代表了一种以前未知的导致遗传性胰腺炎的分子机制。
Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a similar to 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.