Organizations and gene duplications of the human and mouse MHC complement gene clusters

Experimental and Clinical Immunogenetics

Volumn 17, Issue 1, 2000, Pages 1-17

  Yang, Zhenyu ^a   Yu, Chack Yung ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

DOM3Z multiple transcripts; Endogenous retrovirus; Human DOM3Z gene; Mouse C4 and SLP; Mouse RP and TNX gene duplications; Mouse RP1 cDNA

Indexed keywords

AMINO ACID; ANDROGEN; COMPLEMENT; COMPLEMENTARY DNA; PROTEIN; REPETITIVE DNA; STEROID;

AMINO TERMINAL SEQUENCE; ARTICLE; COMPARATIVE STUDY; DNA SEQUENCE; EVOLUTION; EXON; GENE CLUSTER; GENE DUPLICATION; GENE LOCUS; GENETIC ORGANIZATION; HUMAN; INTRON; MAJOR HISTOCOMPATIBILITY COMPLEX; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIMATE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOGENE; RETROVIRUS; RNA SPLICING; SOUTHERN BLOTTING; STRUCTURAL GENE;

MAMMALIA; PRIMATES; UNIDENTIFIED RETROVIRUS;

EID: 0033975614     PISSN: 02549670     EISSN: None     Source Type: Journal    
DOI: 10.1159/000019119     Document Type: Article

References (52)

1. Yu CY: Molecular genetics of the human MHC complement gene cluster. Exp Clin Immunogenet 1998;15:213-230.
2. Carroll MC, Campbell RD, Bentley DR, Porter RR: A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 1984;307:237-241.
3. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY: Modular variations of HLA class III genes for serine/threonine kinase RP, complement C4, steroid 21-hydroxylase CYP21 and tenascin TNX (the RCCX module): A mechanism for gene deletions and disease associations. J Biol Chem 1999;274:12147-12156.
4. Yang Z, Shen L, Dangel AW, Wu LC, Yu CY: 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. Genomics 1998;53:338-347.
5. Rupert KL, Rennebohm RM, Yu CY: An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis. Exp Clin Immunogenet 1999;16:81-97.
6. Miller WL, Morel Y: The molecular genetics of 21-hydroxylase deficiency. Annu Rev Genet 1989;23:371-393.
7. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL: Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993;122:265-278.
8. Shen LM, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel A, Carroll MC, Zipf W, Yu CY: Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and C4B genes in the HLA class III region: Molecular cloning, exon-intron structure, composite retroposon and breakpoint of gene duplication. J Biol Chem 1994;269:8466-8476.
9. Levi-Strauss M, Carroll MC, Steinmetz M, Meo T: A previously undetected MHC gene with an unusual periodic structure. Science 1988; 240:201-204.
10. Sargent CA, Anderson MJ, Hsieh A-L, Kendall E, Gomez-Escobar N, Campbell RD: Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex. Hum Mol Genet 1994;3:481-488.
11. Porter RR: Complement polymorphism, the major histocompatibility complex and associated diseases: A speculation. Mol Biol Med 1983;1: 161-168.
12. Fielder AHL, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA, Hughes GRV: Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: Importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J 1983;286:425-428.
13. Mijovic C, Fletcher J, Bradwell AR, Harvey T, Barnett AH: Relation of gene expression (allotypes) of the fourth component of complement to insulin dependent diabetes and its microangiopathic complications. Br Med J 1985;291:9-10.
14. Lhotta K, Schlogl A, Uring-Lambert B, Kronenberg F, Konig P: Complement C4 phenotypes in patients with end-stage renal disease. Nephron 1996;72:442-446.
15. Laitinen T, Lokki ML, Tulppala M, Ylikorkala O, Koskimies S: Increased frequency of complement C4 'null' alleles in recurrent spontaneous abortions. Hum Reprod 1991;6:1384-1387.
16. Volanakis JE, Zhu Z-B, Schaffer FM, Macon KJ, Palermos J, Barger BO, Go R, Campbell RD, Schroeder Jr HW, Cooper MD: Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J Clin Invest 1992;89:1914-1922.
17. Yamaguchi Y, Takagi T, Wada T, Yano K, Furuya A, Sugimoto S, Hasegawa J, Handa H: NELF. a multi-subunit complex containing RD, co-operates with DSIF to repress RNA polymerase II elongation. Cell 1999; 97:41-51.
18. Dangel AW, Shen L, Mendoza AR, Wu L-C, Yu CY: Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: Emergence of a new gene family. Nucleic Acids Res 1995;23:2120-2126.
19. Qu X, Yang Z, Zhang S, Shen L, Dangel AW, Hughes JH, Redman KL, Wu LC, Yu CY: The human DEVH-box protein Ski2w from the HLA is located in nucleoli and ribosomes. Nucleic Acids Res 1998;26: 4068-4077.
20. Masison D, Blanc A, Ribas JC, Carroll K, Sonenberg N, Wickner RB: Decoying the cap-mRNA degradation system by a double stranded RNA virus and poly(A)-mRNA surveillance by a yeast antiviral system. Mol Cell Biol 1995;15:2763-2771.
21. Jacobs Anderson J, Parker R: The 3′ to 5′ degradation of yeast mRNAs is a general mechanism for mRNA turnover that requires the SK12 DEVH box protein and 3′ to 5′ exonucleases of the exosome complex. EMBO J 1998;17:1497-1506.
22. Paulsen JE, Capowski EE, Strome S: Phenotypic and molecular analysis of mes-3, a maternal-effect gene required for proliferation and viability of the germ line in C. elegans. Genetics 1995;141:1383-1398.
23. White PC, New MI, DuPont B: Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986;83:5111-5115.
24. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y: Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986;83: 2841-2845.
25. Chaplin D, Woods D, Whitehead A, Goldberger G, Colten H, Seidman J: Molecular map of the murine S region. Proc Natl Acad Sci USA 1983; 80:6947-6951.
26. Shreffler DC, Atkinson JP, Chan AC, Karp DR, Killion CC, Ogata RT, Rosa PA: The C4 and Slp genes of the complement region of the murine H-2 major histocompatibility complex. Phil Trans R Soc Lond 1984;B 306:395-403.
27. Chaplin DD, Galbraith LJ, Seidman JG, White PC, Parker KL: Nucleotide sequence analysis of murine 21-hydroxylase genes: Mutations affecting gene expression. Proc Natl Acad Sci USA 1986;83:9601-9605.
28. Rowen L, Dankers C, Baskin D, Faust J, Loretz C, Ahearn ME, Banta A. Schwartzell S, Smith TM, Spies T, Hood L: Homo sapiens HLA class III region containing tenascin X gene, partial cds, cytochrome P450 21-hydroxylase (CYP21B), complement C4 (C4B), G11, helicase (SKI2W), RD. complement factor B (Bf), and complement component C2 (C2) genes, complete cds. GenBank, 1997; Accession No. AF019413.
29. Rowen L, Dankers C, Baskin D, Faust J, Loretz C, Ahearn ME, Banta A, Schwartzell S, Smith TM, Spies T, Hood L: Human HLA class III region containing cAMP response element binding protein-related protein (CREB-RP) and tenascin-X genes, complete cds, complete sequence. GenBank. 1997; Accession No. U89337.
30. Rowen L, Mahairas G, Qin S, Ahearn ME, Dankers C, Lasky S, Loretz C, Schmidt S, Tipton S, Traicoff R, Zackrone K, Hood L: Mus musculus major histocompatibility locus class III region: Butyrophilin-like protein gene, partial cds; Notch4, PBX2, RAGE, lysophatidic acid acyl transferase-alpha, palmitoyl-protein thioesterase 2 (PPT2), CREB-RP, and tenascin X (TNX) genes, complete cds; and CYP21OHB pseudogene, complete sequence. GenBank, 1997; Accession No AF030001.
31. Rowen L, Qin S, Lasky SR, Loretz C, Dors M, Mahairas G, Hood L: Mus musculus major histocompatibility complex locus class III region: complement C4 (C4) and cytochrome P450 hydroxylase A (CYP21OH-A) genes, complete cds; slp pseudogene, complete sequence, NG6, SKI, and complement factor B (Bf) genes, complete cds; and complement factor C2 (C2) gene, partial cds). GenBank, 1998; Accession No AF049850.
32. Dangel AW, Baker BJ, Mendoza AR, Yu CY: Complement component C4 gene intron 9 as a phylogenetic marker for primates: Long terminal repeats of the endogenous retrovirus ERV-K(C4) are a molecular clock of evolution. Immunogenetics 1995;42:41-52.
33. Altschul SF, Schäffer AA, Madden TL, Zhang J, Zhang Z, Lipman DJ, Miller W: Gapped BLAST and PSI-BLAST: A new generation of protein database search programs. Nucleic Acids Res 1997;25:3389-3402.
34. Marra M, Hillier L, Allen M, Bowles M, Dietrich N, Dubuque T, Geisel S, Kucaba T, Lacy M, Le M, Martin J, Morris M, Schellenberg K, Steptoe M, Tan F, Underwood K, Moore B, Theising B, Wylie T, Lennon G, Soares B, Wilson R, Waterston R: Mus musculus cDNA clone IMAGE: 468777, 5′ similar to PIR:A53439 B53439 complement C4A 5′-region protein RP. GenBank, 1996; Accession No AA035570.
35. Genetics Computer Group: GCG sequence analysis software package: Program manual, version 7. Madison, Genetics Computer Group, Inc, 1991.
36. Nonaka M, Kimura H, Yeul YD, Yokoyama S, Nakayama K, Takahashi M: Identification of the 5′-flanking regulatory region responsible for the difference in transcriptional control between mouse complement C4 and Slp genes. Immunology 1986;83:7883-7887.
37. Ogata RT, Zepf NE: The murine Slp gene: Additional evidence that sex-limited protein has no biologic function. J Immunol 1991;147:2756-2763.
38. Normore WM, Shapiro HS, Setlow P: in Fastman, GD (ed): CRC Handbook of Biochemistry and Molecular Biology. Boca Raton, CRC Press, 1976.
39. Patthy L: Intron-dependent evolution: Preferred type of exons and introns. FEBS Lett 1987;214:1-7.
40. Bairoch A, Bucher P, Hofmann K: The PROSITE database, its status in 1997. Nucleic Acids Res 1997;25: 217-221.
41. Stavenhagen JB, Robins DM: An ancient provirus has imposed androgen regulation on the adjacent mouse sex-limited protein gene. Cell 1988;55:247-254.
42. Matsumoto K, Saga Y, Ikemura T, Sakakura T, Chiquet-Ehrismann R: The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C. J Cell Biol 1994;125: 483-493.
43. Rosa PA, Sepich DS, Shreffler DC, Ogata RT: Mice constitutive for sex limited (Slp) expression contain multiple Slp gene sequences. J Immunol 1985;135:627-631.
44. Levi-Strauss M, Tosi M, Steinmetz M, Klein J, Meo T: Multiple duplications of complement C4 gene correlate with H-2-controlled testosterone-independent expression of its sex-limited isoform, C4-Slp. Proc Natl Acad Sci USA 1985;82:1746-1750.
45. w7 mice are C4/Slp hybrid genes generated by multiple recombinational events. Immunogenetics 1990;32:431-439.
46. Kawaguchi H, O'hUigin C, Klein J: Evolution of primate C4 and CYP21 genes; in Klein J and Klein D (eds): Molecular evolution of the major histocompatibility complex. Heidelberg, Springer, 1991, pp 357-381.
47. Atkinson JP, Karp DR, Seekin EP, Killion CC, Rosa PA, Newell SL, Shreffler DC: H-2 region determined polymorphic variants of the C4 Slp, C2 and B complement proteins: A compilation. Immunogenetics 1982;16:617-623.
48. Fredrikson GN, Gullstrand B, Schneider PM, Witzel-Schlomp K, Sjoholm AG, Alper CA, Awdeh Z, Truedsson L: Chraracterization of non-expressed C4 genes in a case of complete C4 deficiency: Identification of a novel point mutation leading to a premature stop codon. Hum Immunol 1998;59:713-719.
49. Barba G, Rittner C, Schneider PM: Genetic basis of human complement C4A deficiency: Detection of a point mutation leading to nonexpression. J Clin Invest 1993;91: 1681-1686.
50. Ramakrisman C, Robins DM: Steroid hormone responsiveness of a family of closely related mouse proviral elements. Mamm Genome 1998;8:811-817.
51. Adler AJ, Manielsen M, Robins DM: Androgen-specific gene activation via a consensus glucocorticoid response element is determined by interaction with nonreceptor factors. Proc Natl Acad Sci USA 1992; 89:11660-11663.
52. Dangel AW, Mendoza AR, Baker BJ, Daniel CM, Carroll MC, Wu L-C, Yu CY: The dichotomous size variation of human complement C4 gene is mediated by a novel family of endogenous retroviruses which also establishes species-specific genomic patterns among Old World primates. Immunogenetics 1994;40: 425-436.