Polymorphisms in canine ATP7B: Candidate modifier of copper toxicosis in the Bedlington terrier
Polymorphisms in canine ATP7B: Candidate modifier of copper toxicosis in the Bedlington terrier
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DOI：
10.1016/j.tvjl.2007.04.012
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发表时间：
2008-08-01
影响因子：
2.2
通讯作者：
Cox, Diane W.
中科院分区：
文献类型：
--
作者：
Coronado, Veronica A.;ONeill, Brian;Cox, Diane W.
COMMD1（MURR1）缺失已被报道为贝德灵顿梗铜中毒（CT）的原因。最近的研究发现，贝德灵顿梗有铜积累，没有纯合的COMMD1缺失。人类Wilson病是一种类似于CT的铜储存障碍，由ATP7B突变引起，COMMD1已被证明与ATP7B蛋白相互作用。ATP7B可能在CT中起到修饰剂的作用，允许铜在Bedlington梗犬中积累，其中COMMD1有一个缺失或其他变异。在这项研究中，我们克隆了ATP7B，并对来自一个谱系的Bedlington梗亚群进行了序列分析，该谱系并未显示COMMD1缺失与CT之间的完全关联。在贝德灵顿梗犬ATP7B基因中发现了11个多态性，其中2个在编码区。然而，这些并不是贝德灵顿梗所独有的，系谱分析表明，ATP7B并不是这类狗的COMMD1的修饰语。英国皇家版权所有(C) 2007, Elsevier Ltd.出版版权所有。
A COMMD1(MURR1) deletion has been reported as the cause of copper toxicosis (CT) in Bedlington terriers. Recent studies identified Bedlington terriers with copper accumulation without homozygous COMMD1 deletions. Wilson disease in humans is a copper storage disorder similar to CT caused by mutations in ATP7B, and COMMD1 has been shown to interact with the ATP7B protein. ATP7B may act as a modifier in CT, allowing for copper accumulation in Bedlington terriers with one deletion or other variations in COMMD1. In this study, ATP7B was cloned and sequence analysis conducted in a subset of Bedlington terriers from a pedigree that does not show complete association between the COMMD1 deletion and CT. Eleven polymorphisms, two in the coding region, were identified in the Bedlington terrier ATP7B gene. However, these are not unique to the Bedlington terrier and pedigree analysis suggests that ATP7B is not a modifier of COMMD1 in this subset of dogs. Crown Copyright (C) 2007 Published by Elsevier Ltd. All rights reserved.