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对X染色体上编码的哺乳动物芳基硫酸酯酶和甾醇硫酸酯酶基因及蛋白质的比较和进化研究。

Comparative and evolutionary studies of mammalian arylsulfatase and sterylsulfatase genes and proteins encoded on the X-chromosome.

作者信息

Holmes Roger S

机构信息

The Griffith Research Institute for Drug Discovery and School of Natural Sciences, Griffith University, Nathan, 4111 QLD, Australia.

出版信息

Comput Biol Chem. 2017 Jun;68:71-77. doi: 10.1016/j.compbiolchem.2017.02.009. Epub 2017 Feb 24.

Abstract

At least 19 sulfatase genes have been reported on the human genome, including four arylsulfatase (ARS) genes (ARSD; ARSE; ARSF; ARSH) and a sterylsulfatase (STS) gene located together on the X-chromosome. Bioinformatic analyses of mammalian genomes were undertaken using known human STS and ARS amino acid sequences to study the evolution of these genes and proteins encoded on eutherian and marsupial genomes. Several domain regions and key residues were conserved including signal peptides, active site residues, metal (Ca) and substrate binding sequences, transmembranes and N-glycosylation sites. Phylogenetic analyses describe the relationships and potential origins of these genes during mammalian evolution. Primate ARSH enzymes lacked signal peptide sequences which may influence their biological functions. CpG117 and CpG92 were detected within the 5' region of the human STS and ARSD genes, respectively, and miR-205 within the 3'-UTR for the human STS gene, using bioinformatic methods A proposal is described for a primordial invertebrate STS-like gene serving as an ancestor for unequal cross over events generating the gene complex on the eutherian mammalian X-chromosome.

摘要

人类基因组中已报道至少19个硫酸酯酶基因,包括四个芳基硫酸酯酶(ARS)基因(ARSD;ARSE;ARSF;ARSH)和一个甾体硫酸酯酶(STS)基因,它们共同位于X染色体上。利用已知的人类STS和ARS氨基酸序列对哺乳动物基因组进行生物信息学分析,以研究这些基因以及在真兽类和有袋类基因组中编码的蛋白质的进化。包括信号肽、活性位点残基、金属(钙)和底物结合序列、跨膜结构域和N-糖基化位点在内的几个结构域区域和关键残基是保守的。系统发育分析描述了这些基因在哺乳动物进化过程中的关系和潜在起源。灵长类动物的ARSH酶缺乏可能影响其生物学功能的信号肽序列。利用生物信息学方法分别在人类STS和ARSD基因的5'区域检测到CpG117和CpG92,在人类STS基因的3'-UTR区域检测到miR-205。本文描述了一种原始无脊椎动物类STS基因的设想,该基因作为不等交换事件的祖先,在真兽类哺乳动物X染色体上产生了基因复合体。

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