Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.
The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genes Bf and C4. RD, which codes for a putative RNA binding protein, is 205 bp downstream of Bf. SKI2W (HGMW-approved symbol SKIV2L), a DEVH-box gene probably involved in RNA turnover, is 171 bp downstream of RD (HGMW-approved symbol D6S45). RP1 (HGMW-approved symbol D6S60E) is located 611 bp upstream of C4. The DNA sequence between human RD and RP1 was determined and the exon-intron structure of SKI2W elucidated. SKI2W consists of 28 exons. The putative RNA helicase domain of Ski2w is encoded by 9 exons. Further analysis of the 2.5-kb intergenic sequence between SKI2W and RP1 led to the discovery of DOM3Z. The full-length cDNA sequence of DOM3Z encodes 396 amino acids with a leucine zipper motif. Dom3z-related proteins are present in simple and complex eukaryotes. In Caenorhabditis elegans, Dom3z-related protein could be involved in the development of germ cells. Human RD-SKI2W and DOM3Z-RP1 are arranged as two head-to-head oriented gene pairs with unmethylated CpG sequences at the common 5' regulatory region of each gene pair. The ubiquitous expression pattern suggests that these four genes are probably housekeeping genes.
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Children's Hospital Research Foundation, 700 Children's Drive, Columbus, Ohio, 43205, USA.
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Dangel
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D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003181:Complement C4 / Q000235:genetics*; D011415:Complement Factor B / Q000235:genetics*; D017124:Conserved Sequence; D018899:CpG Islands; D004265:DNA Helicases / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005136:Eye Proteins; D015870:Gene Expression; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D005810:Multigene Family; D009687:Nuclear Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D035602:Transcriptional Elongation Factors
D003181:Complement C4; D017931:DNA Primers; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D006680:HLA Antigens; D008869:Microtubule-Associated Proteins; D009687:Nuclear Proteins; C120042:RP1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D035602:Transcriptional Elongation Factors; C118437:negative elongation factor; D011415:Complement Factor B; D004265:DNA Helicases; C114718:SKIV2L protein, human