Identification of a new copper metabolism gene by positional cloning in a purebred dog population
Identification of a new copper metabolism gene by positional cloning in a purebred dog population
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DOI：
10.1093/hmg/11.2.165
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发表时间：
2002-01-15
影响因子：
3.5
通讯作者：
Wijmenga, C
中科院分区：
文献类型：
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作者：
van de Sluis, B;Rothuizen, J;Wijmenga, C
狗和猫等驯化动物物种具有许多不同的特征和特定品种的疾病，它们与人类的关系密切并共享环境，是鉴定遗传对人类生物学和疾病贡献的潜在丰富资源。铜中毒在贝德林顿梗是一种遗传病发生在世界范围内的高患病率，是独特的品种。哺乳动物体内的铜稳态似乎受到良好的调节。在人类和啮齿动物中发现了两种铜载体蛋白，当它们功能失调时，会导致铜缺乏（门克斯病）或铜在各种组织中积聚（威尔逊病）。然而，这些蛋白质并不主要参与铜的胆道排泄。贝德林顿梗有高患病率的铜中毒，并有充分的文件证明，他们的胆铜排泄受损。这种疾病与了解哺乳动物的铜代谢有直接关系。此前，我们将铜中毒基因定位到狗的染色体10q26区。根据从私人养的狗身上获得的DNA样本，我们能够将铜中毒基因的定位限制在一个区域
Domesticated animal species such as dogs and cats, with their many different characteristics and breed-specific diseases, and their close relationship and shared environment with humans, are a potentially rich source for the identification of the genetic contribution to human biology and disease. Copper toxicosis in Bedlington terriers is a genetic disease occurring with a high prevalence worldwide and is unique to this breed. Copper homeostasis appears to be well regulated in mammals. Two copper carrier proteins have been identified in man and rodents which, when dysfunctional, cause either copper deficiency (Menkes disease) or copper accumulation in various tissues (Wilson disease). However, these proteins are not primarily involved in the biliary excretion of copper. Bedlington terriers have a high prevalence of copper toxicosis and it is well documented that their biliary excretion of copper is impaired. This disease is of direct relevance for the understanding of copper metabolism in mammals. Previously, we mapped the copper toxicosis gene to dog chromosome region 10q26. Based on DNA samples obtained from privately owned dogs, we were able to confine the localization of the copper toxicosis gene to a region of