Features of the two gene pairs RD-SKI2W and DOM3Z-RP1 located between complement component genes factor B and C4 at the MHC class III region.
Features of the two gene pairs RD-SKI2W and DOM3Z-RP1 located between complement component genes factor B and C4 at the MHC class III region.
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DOI：
10.2741/yang
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发表时间：
2001-08
期刊：
影响因子：
--
通讯作者：
Z. Yang;X. Qu;C. Y. Yu
中科院分区：
文献类型：
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作者：
Z. Yang;X. Qu;C. Y. Yu
在补体因子B和成分C4之间30kb的基因组区域，有四个普遍表达的基因RD、SKI2W、DOM3Z和RP1。除RP1外，其他三个基因的蛋白产物在低等真核生物中均有高度保守的同源物或相关蛋白，含有蛋白相互作用的亮氨酸拉链基序，在RNA代谢中起重要作用。RD是负转录延伸因子的一个亚基，对基因表达的调控至关重要。它具有一个RNA识别基序和24个Arg-Asp （RD）重复序列。Ski2w是一种核仁和细胞质蛋白，被认为具有RNA解旋酶结构域。在昆虫细胞和细菌中表达的人Ski2w融合蛋白具有atp酶活性。人Ski2w的胞质蛋白与多体有关，也可能与核糖体的40S亚基有关。Ski2w可能参与了翻译和RNA转换的调控。Dom3z是一种核蛋白，其酵母同源物与外核糖核酸酶形成复合物。RP1（或STK19）是一种丝氨酸/苏氨酸核蛋白激酶。在低等真核生物中没有发现RP1的同源物。人类Ski2w中有6个多态残基，Dom3z中有2个多态残基。sk2w和Dom3z在清除降解的细胞核和细胞质RNA方面的潜在作用提高了它们作为系统性红斑狼疮易感基因的可能性，红斑狼疮是一种细胞凋亡物质清除过程存在缺陷的疾病。
Located at the 30 kb genomic region between complement factor B and component C4 are four ubiquitously expressed genes RD, SKI2W, DOM3Z and RP1. Besides RP1, the protein products of the other three genes each has highly conserved homologues or related proteins in lower eukaryotes, contains leucine zipper motifs for protein interaction, and plays important roles related to RNA metabolism. RD is a subunit of the negative transcription elongation factor, critical for the regulation of gene expression. It has an RNA recognition motif and 24 copies of Arg-Asp (RD) repeats. Ski2w is a nucleolar and cytoplasmic protein that has a putative RNA helicase domain. Fusion proteins of human Ski2w expressed in insect cells and bacteria have ATPase activity. The cytoplasmic protein of human Ski2w is associated with the polysomes and probably the 40S subunit of ribosomes. Ski2w is probably involved in the regulation of translation and RNA turnover. Dom3z is a nuclear protein whose yeast homologue forms a complex with an exoribonuclease. RP1 (or STK19) is a Ser/Thr nuclear protein kinase. No homologues of RP1 in lower eukaryotes have been discovered. Six polymorphic residues are present in human Ski2w and two in Dom3z. The potential roles of Ski2w and Dom3z on the clearance of degraded nuclear and cytoplasmic RNA raised their possibilities as susceptibility genes of systemic lupus erythematosus that is a disease with flawed processes in the removal of apoptotic materials.