Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1
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DOI：
10.1006/geno.1999.5819
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发表时间：
1999-06-01
期刊：
影响因子：
4.4
通讯作者：
Cruces, J
中科院分区：
文献类型：
--
作者：
Jurado, LAP;Coloma, A;Cruces, J
我们已经分离到一个与果蝇旋转腹部(Rt)同源的人类基因，RT是一种低活性的隐性突变，由于胚胎肌肉发育缺陷而导致受影响的果蝇顺时针扭曲腹部。与RT一样，人类基因编码一种与酵母甘露糖基转移酶(Pmts)高度同源的蛋白质，并被命名为POMT1。POMT1在所有受试组织中以3.1kb转录本的形式表达，其中在睾丸和胎儿脑中表达水平最高。所有组织中几个外显子的选择性剪接预测了几种蛋白质亚型的产生。最常见的mRNA变异体编码725-aa蛋白，与RT有40%的同源性和62.5%的相似性，与酵母Pmts有30.5%的同源性和54%的相似性。蛋白质分选的计算机预测表明，POMT1产物可能是内质网膜的一个完整蛋白质，由于POMT1和酵母Pmts之间的蛋白质基序高度保守，POMT1可能作为一种参与蛋白质O-甘露糖化的甘露糖基转移酶发挥作用，POMT1是第一个在哺乳动物中发现的此类基因，体细胞杂交、辐射杂交和连锁分析已将POMT1基因定位在人类染色体9q34.1上。根据RT表型，POMT1可能是肌肉系统某些形式的先天性肌营养不良或先天性肌病等未知遗传性疾病的候选基因。(C)1999年学术出版社。
We have isolated a human gene homologous to Drosophila melanogaster rotated abdomen, rt, a poorly viable recessive mutation causing a clockwise twisted abdomen in affected flies due to defects in embryonic muscle development, The human gene, like rt, encodes a protein with high homology to the yeast mannosyl-transferases (Pmts) and has been named POMT1. POMT1 is expressed as a 3.1-kb transcript in all tissues tested, with highest levels in testis and fetal brain. Alternative splicing of several exons in all tissues predicts the generation of several protein isoforms. The most common mRNA variant encodes a 725-aa protein with 40% identity and 62.5% similarity to rt, as well as 30.5% identity and 54% similarity to yeast Pmts. Computer prediction of protein sorting suggests that the POMT1 product could be an integral protein of the endoplasmic reticulum membrane, Given the strong conservation of protein motifs between POMT1 and the yeast Pmts, POMT1 may function as a mannosyl-transferase involved in O-mannosylation of proteins, being the first of such a class found in mammals, The POMT1 locus has been assigned to human chromosome 9q34.1 by somatic cell hybrids, radiation hybrids, and linkage analysis, On the basis of the rt phenotype, POMT1 could be a candidate for uncharacterized genetic disorders of the muscular system, such as some forms of congenital muscular dystrophy or congenital myopathy. (C) 1999 Academic Press.