编码人β-己糖胺酶β链的基因：α链和β链基因中内含子位置的广泛同源性。
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
作者信息
Proia R L
机构信息
Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892.
出版信息
Proc Natl Acad Sci U S A. 1988 Mar;85(6):1883-7. doi: 10.1073/pnas.85.6.1883.
Abstract
Lysosomal beta-hexosaminidase (EC 3.2.1.52) is composed of two structurally similar chains, alpha and beta, that are the products of different genes. Mutations in either gene causing beta-hexosaminidase deficiency result in the lysosomal storage disease GM2-gangliosidosis. To enable the investigation of the molecular lesions in this disorder and to study the evolutionary relationship between the alpha and beta chains, the beta-chain gene was isolated, and its organization was characterized. The beta-chain coding region is divided into 14 exons distributed over approximately 40 kilobases of DNA. Comparison with the alpha-chain gene revealed that 12 of the 13 introns interrupt the coding regions at homologous positions. This extensive sharing of intron placement demonstrates that the alpha and beta chains evolved by way of the duplication of a common ancestor.
摘要
溶酶体β - 氨基己糖苷酶（EC 3.2.1.52）由两条结构相似的链，即α链和β链组成，它们是不同基因的产物。任一基因发生突变导致β - 氨基己糖苷酶缺乏都会引发溶酶体贮积病GM2 - 神经节苷脂沉积症。为了能够研究这种疾病中的分子损伤，并研究α链和β链之间的进化关系，我们分离了β链基因，并对其结构进行了表征。β链编码区被分为14个外显子，分布在约40千碱基的DNA上。与α链基因比较发现，13个内含子中有12个在同源位置打断编码区。内含子位置的这种广泛共享表明，α链和β链是通过共同祖先的复制进化而来的。
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Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.编码人β-己糖胺酶β链的基因：α链和β链基因中内含子位置的广泛同源性。
Proc Natl Acad Sci U S A. 1988 Mar;85(6):1883-7. doi: 10.1073/pnas.85.6.1883.
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