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小鼠氨基甲基转移酶基因(Amt)的基因组结构

Genomic organization of the murine aminomethyltransferase gene (Amt).

作者信息

Backofen Bianca, Leeb Tosso

机构信息

Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.

出版信息

DNA Seq. 2002 Aug;13(4):179-83. doi: 10.1080/1042517021000021572.

Abstract

Aminomethyltransferase (Amt), also called glycine cleavage system T-protein is an important enzyme in glycine metabolism (EC 2.1.2.10). Mutations in this gene in humans lead to nonketotic hyperglycinemia, a fatal Mendelian disease. Here, we report the cloning and sequencing of the murine Amt gene. The murine Amt gene consists of nine closely spaced exons that are contained within approximately 5 kb of genomic DNA. It encodes a protein of 403 amino acids that is highly homologous to other mammalian aminomethyltransferases. The cis-acting promoter of the Amt gene is likely to be very short as immediately upstream of the murine Amt gene another gene termed Nicolin 1 gene (Nicn1) is located.

摘要

氨基甲基转移酶(Amt),也称为甘氨酸裂解系统T蛋白,是甘氨酸代谢中的一种重要酶(EC 2.1.2.10)。人类该基因突变会导致非酮症高甘氨酸血症,这是一种致命的孟德尔疾病。在此,我们报告小鼠Amt基因的克隆和测序。小鼠Amt基因由九个紧密排列的外显子组成,这些外显子包含在约5 kb的基因组DNA中。它编码一种由403个氨基酸组成的蛋白质,该蛋白质与其他哺乳动物的氨基甲基转移酶高度同源。Amt基因的顺式作用启动子可能非常短,因为在小鼠Amt基因的紧邻上游定位着另一个名为Nicolin 1基因(Nicn1)的基因。

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