异常的类α珠蛋白基因，其已完全缺失两个珠蛋白内含子序列。
Unusual alpha-globin-like gene that has cleanly lost both globin intervening sequences.
作者信息
Nishioka Y, Leder A, Leder P
出版信息
Proc Natl Acad Sci U S A. 1980 May;77(5):2806-9. doi: 10.1073/pnas.77.5.2806.
Abstract
We have cloned and determined the nucleotide sequence of a mouse alpha-globin-like gene that entirely lacks the two intervening sequences that interrupt all globin genes thus far examined. The fact that this gene, alpha-3, is closely homologous to the normal adult alpha gene sequence suggests that it arose after the alpha/beta divergence and that it therefore must have lost its intervening sequences. The further fact that these intervening sequences have been lost cleanly--that is, in according with the G-T/A-G splicing rule of RNA--suggests, among other possibilities, that their loss may have been brought about by a gene conversion event involving the mediation of mature globin mRNA or its cDNA cognate. We propose such a mechanism that would permit the loss of either or both intervening sequences independently. Only the loss of both, however, should result in the inactivation of the globin gene, as seems to be the case with alpha-3.
摘要
我们已经克隆并测定了一个小鼠α-珠蛋白样基因的核苷酸序列，该基因完全缺失了迄今为止在所有已检测的珠蛋白基因中都存在的两个间隔序列。这个名为α-3的基因与正常成年α基因序列高度同源，这一事实表明它是在α/β分化之后出现的，因此它必定失去了其间隔序列。另外，这些间隔序列是完全缺失的——也就是说，符合RNA的G-T/A-G剪接规则——这表明，除了其他可能性之外，它们的缺失可能是由涉及成熟珠蛋白mRNA或其cDNA同源物介导的基因转换事件导致的。我们提出了这样一种机制，它将允许间隔序列中的一个或两个独立缺失。然而，只有两个间隔序列都缺失才会导致珠蛋白基因失活，α-3似乎就是这种情况。
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