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位于14号染色体q11.2区域的LOC 390443(核糖核酸酶9)与核糖核酸酶A超家族相关,并且包含一个独特的氨基末端前蛋白样序列。

LOC 390443 (RNase 9) on chromosome 14q11.2 is related to the RNase A superfamily and contains a unique amino-terminal preproteinlike sequence.

作者信息

Devor Eric J, Moffat-Wilson Kristin A, Galbraith Jessica J

机构信息

Molecular Genetics and Bioinformatics, Integrated DNA Technologies, 1710 Commercial Park, Coralville, IA 52241, USA.

出版信息

Hum Biol. 2004 Dec;76(6):921-35. doi: 10.1353/hub.2005.0016.

Abstract

A new member of the human RNase A superfamily is reported. Identified in the human genome assembly as LOC 390443, this locus is located 128 kb telomeric to the established RNase A gene family cluster on chromosome 14q11.2. The amino acid sequence of this locus is sufficiently similar to the eight previously identified gene family members to warrant a designation as RNase 9. RNase 9 is expressed in a wide range of human tissues. In addition, a 30-amino acid sequence lying between a 26-amino acid putative signal peptide and the last 148 amino acids that align with the other RNases A is not seen in other members of the RNase A superfamily in any species. Nucleotide and amino acid sequences of RNase 9 in 13 nonhuman primate species were determined and indicate several conserved sites but, also, an excess of nonsynonymous substitutions, about one-third of which are radical substitutions. This suggests that RNase 9, similar to several other human RNases A, has been under diversifying selection in the primates. Data from the mouse and rat genomes indicate that RNase 9 is also present in rodents, thus making it older than most of the established members of the human RNase A superfamily. Many of the human RNases A have been shown to have antimicrobial, antiviral, or antiparasitic functions involved in host-defense mechanisms. The features of RNase 9 described here suggest that it, too, may be involved in host defense and that it, along with the rest of the superfamily, may prove to have played an important role in anthropoid evolution.

摘要

据报道,人类核糖核酸酶A超家族新增了一个成员。该基因座在人类基因组组装中被识别为LOC 390443,位于14号染色体q11.2上已确定的核糖核酸酶A基因家族簇的端粒方向128 kb处。该基因座的氨基酸序列与之前鉴定的八个基因家族成员足够相似,因此被命名为核糖核酸酶9。核糖核酸酶9在多种人类组织中表达。此外,在一个26个氨基酸的假定信号肽和与其他核糖核酸酶A对齐的最后148个氨基酸之间的一段30个氨基酸的序列,在任何物种的核糖核酸酶A超家族的其他成员中都未发现。测定了13种非人类灵长类动物物种中核糖核酸酶9的核苷酸和氨基酸序列,结果表明存在几个保守位点,但也存在过量的非同义替换,其中约三分之一是激进替换。这表明核糖核酸酶9与其他几种人类核糖核酸酶A一样,在灵长类动物中经历了多样化选择。来自小鼠和大鼠基因组的数据表明,核糖核酸酶9在啮齿动物中也存在,因此它比人类核糖核酸酶A超家族的大多数已确定成员更为古老。许多人类核糖核酸酶A已被证明具有参与宿主防御机制的抗菌、抗病毒或抗寄生虫功能。本文所述的核糖核酸酶9的特征表明,它也可能参与宿主防御,并且它与超家族的其他成员一起,可能在类人猿进化中发挥了重要作用。

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