Bull P C, Cox D W
Hospital for Sick Children, Toronto, Ontario, Canada.
Trends Genet. 1994 Jul;10(7):246-52. doi: 10.1016/0168-9525(94)90172-4.
Little is known at the molecular level about the homeostatic control of heavy-metal concentrations in mammals. Recently, however, two human diseases that disrupt copper transport, Menkes disease and Wilson disease, were found to be caused by mutations in two closely related genes, MNK and WND, which encode proteins belonging to the P-type ATPase family of cation transporters. The MNK and WND proteins are unique in having at their amino termini six copies of a sequence that is remarkably similar to sequences previously found in bacterial heavy-metal-resistance proteins and in a P-type ATPase that appears to form part of a bacterial copper homeostatic system. These two human ATPases are the first putative heavy-metal transporters to be discovered in eukaryotes.
在分子水平上,人们对哺乳动物体内重金属浓度的稳态控制了解甚少。然而,最近发现,两种破坏铜转运的人类疾病——门克斯病和威尔逊病,是由两个密切相关的基因MNK和WND发生突变引起的,这两个基因编码属于阳离子转运体P型ATP酶家族的蛋白质。MNK和WND蛋白的独特之处在于,它们的氨基末端有六个序列拷贝,这些序列与先前在细菌重金属抗性蛋白和一种似乎构成细菌铜稳态系统一部分的P型ATP酶中发现的序列非常相似。这两种人类ATP酶是在真核生物中首次发现的推定重金属转运体。