Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)
Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)
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DOI：
10.1006/geno.1996.0104
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发表时间：
1996-03-01
期刊：
影响因子：
4.4
通讯作者：
Adham, IM
中科院分区：
文献类型：
--
作者：
Aho, H;Schwemmer, M;Adham, IM
线粒体胶囊硒蛋白（MCS） （hgmw批准的符号MCSP）是维持和稳定精子线粒体新月形结构的三种重要蛋白质之一。我们在这里描述了cDNA的分离、外显子-内含子组织、表达和人类rig基因的染色体定位。人类和小鼠MCS cdna的核苷酸序列分析表明，5‘和3’非翻译序列的保守性（71%）高于编码序列（59%）。该开放阅读框编码一个116个氨基酸的蛋白，并且缺少UGA密码子，而UGA密码子曾被报道编码该小鼠蛋白n端的硒代半胱氨酸。推导出的人蛋白与小鼠蛋白的氨基酸序列一致性较低（39%）。最引人注目的同源性在于二半胱氨酸基序，北方和南方动物印迹分析显示，人类、狒狒和牛的RIGS基因比小鼠和大鼠的同类基因更为保守。人MCS基因的单个内含子约6 kb，在与小鼠和大鼠基因相同的位置中断5'-未翻译区。Northern blot和原位杂交实验表明，人MCS基因的表达仅限于单倍体精子。人类基因被分配到1号染色体q21上。(C) 1996学术出版社，Inc.
The mitochondrial capsule selenoprotein (MCS) (HGMW-approved symbol MCSP) is one of three proteins that are important for the maintenance and stabilization of the crescent structure of the sperm mitochondria. We describe here the isolation of a cDNA, the exon-intron organization, the expression, and the chromosomal localization of the human RIGS gene. Nucleotide sequence analysis of the human and mouse MCS cDNAs reveals that the 5'- and 3'-untranslated sequences are more conserved (71%) than the coding sequences (59%). The open reading frame encodes a 116-amino-acid protein and lacks the UGA codons, which have been reported to encode the selenocysteines in the N-terminal of the deduced mouse protein. The deduced human protein shows a low degree of amino acid sequence identity to the mouse protein (39%). The most striking homology lies in the dicysteine motifs, Northern and Southern zooblot analyses reveal that the RIGS gene in human, baboon, and bovine is more conserved than its counterparts in mouse and rat. The single intron in the human MCS gene is approximately 6 kb and interrupts the 5'-untranslated region at a position equivalent to that in the mouse and rat genes. Northern blot and in situ hybridization experiments demonstrate that the expression of the human MCS gene is restricted to haploid spermatids. The human gene was assigned to q21 of chromosome 1. (C) 1996 Academic Press, Inc.