The natural history of an HLA haplotype and its recombinants

Immunogenetics

Volumn 48, Issue 1, 1998, Pages 8-15

  D'Alfonso, Sandra ^a   Borelli, Iolanda ^a   Dall'Omo, Annamaria ^b   Bolognesi, Elisabetta ^a   Partanen, Jukka ^c   Levo, Antti ^c   Pociot, Flemming ^d   Fan, Lian ^e   Juji, Takeo ^f   Hammond, Michael ^g   Tosi, Roberto ^h   Richiardi, Patricia Momigliano ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c Tissue Typing Laboratory   (Finland)

^d STENO DIABETES CENTER   (Denmark)

^e SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^f JAPANESE RED CROSS MEDICAL CENTER   (Japan)

^g Natal Institute of Immunology   (South Africa)

^h CNR   (Italy)

Author keywords

Central HLA region; Haplospecific markers; HLA extended haplotype; HLA population genetics; Preferential recombination site

Indexed keywords

HLA ANTIGEN CLASS 1; HLA ANTIGEN CLASS 2; MICROSATELLITE DNA; RECOMBINANT DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; ENHANCER REGION; FOUNDER EFFECT; GENE DUPLICATION; GENE LOCUS; GENE MAPPING; HAPLOTYPE; HUMAN; HUMAN CELL; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION;

BASE SEQUENCE; DNA; FINLAND; GENE FREQUENCY; HAPLOTYPES; HLA ANTIGENS; HLA-B ANTIGENS; HUMANS; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RECOMBINATION, GENETIC;

EID: 7144254469     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510050394     Document Type: Article

References (43)

1. Awdeh, A.L. and Alper, C.A. Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sci USA 77: 3576-3580, 1980
2. Belt, K.T., Carroll, M.C., and Porter, R.R. The structural basis of the multiple forms of human complement component C4. Cell 36: 907-914, 1984
3. Bunce, M., Barnardo, M.C., Procter, J., Marsh, S.G., Vilches, C., and Welsh, K.I. High resolution HLA-C typing by PCR-SSP: identification of allelic frequencies and linkage disequilibrium in 604 unrelated random UK Caucasoids and a comparison with serology. Tissue Antigens 48: 680-691, 1996
4. Cascino, I., Sorrentino, R., and Tosi, R. Strong genetic association between HLA-DR3 and a polymorphic variation in the regulatory region of the HSP70-1 gene. Immunogenetics 37: 177-182, 1993
5. Cavalli-Sforza, L.L., Menozzi, P., and Piazza, A. Genetic history of world population. In L.L. Cavalli-Sforza, P. Menozzi and A. Piazza (eds.): The History and Geography of Human Genes, pp. 60-154, Princeton University Press, New Jersey, 1994
6. Christiansen, F.T., Witt, C.S., and Dawkins, R.L. Questions in marrow matching: the implications of ancestral haplotypes for routine practice. Bone Marrow Transpl 8: 83-86, 1991
7. Clayton, J., Lonjou, C., and Whittle, D. Allele and haplotype frequencies for HLA loci in various ethnic groups. Appendix A. In D. Charron (ed.): Genetic Diversity of HLA: Functional and Medical Implications, pp. 665-711, EDK, Sevre, 1997
8. Colonna, M., Spies, T., Strominger, J., Ciccone, K., Moretta, A., Moretta, L., Pende, D., and Viale, O. Alloantigen recognition by two human natural killer cell clones is associated with HLA-C or a closely linked gene. Proc Natl Acad Sci USA Sci 7983-7985, 1992
9. D'Alfonso, S. and Cascino, I. Population analysis of the HSP70-1 gene polymorphisms. Eur J Immunogenet 22: 18-19, 1995
10. D'Alfonso, S. and Momigliano Richiardi, P. A polymorphic variation in a putative regulation box of the TNFA promoter region. Immunogenetics 40: 150-154, 1994
11. D'Alfonso, S., Cappello, N., Borelli, I., Mazzola, G., Peruccio, D., Giordano, M., Cascino, I., Tosi, R., and Momigliano Richiardi, P. HLA supratypes in an Italian population. Immunogenetics 39: 114-120, 1994
12. D'Alfonso, S., Cappello, N., Carcassi, C., Fasano, M.E., and Momigliano Richiardi, P. Microsatellites in the HLA central region are markers of HLA conserved extended haplotypes. In D. Charron (ed.): Genetic Diversity of HLA: Functional and Medical Implications, pp. 125-127, EDK, Sevre, 1997
13. Dawkins, R.L., Christiansen, F.T, Kay, P.H., Garlepp, M.J., McCluskey, J., Hollingsworth, P.N., and Zilko, P.J. Disease associations with complotypes, supratypes and haplotypes. Immunol Rev 70: 1-22, 1983
14. Degli Esposti, M.A., Leave, A.L., Christiansen, F.T., Witt, C.S., Abraham, L.J., and Dawkins, R.L. Ancestral haplotypes: conserved population MHC haplotypes. Hum Immunol 34: 242-252, 1992a
15. Degli Esposti, M.A., Andreas, A., Christiansen, F.T., Schalke, B., Albert, E., and Dawkins, R.L. An approach to the localization of the susceptibility genes for generalized myasthenia gravis by mapping recombinant ancestral haplotypes. Immunogenetics 35: 355-364, 1992b
16. Degli Esposti, M.A., Abraham, L.J., Mc Cann, V., Spies, T., Christiansen, F.T., and Dawkins, R.L. Ancestral haplotypes reveal the role of the central MHC in the immunogenetics of IDDM. Immunogenetics 36: 345-356, 1992c
17. De la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865, 1993
18. Egea, G.E., Yunis, I., Spies, T., Strominger, J., Awdeh, Z.L., Alper, C.A., and Yunis, E.: Association of polymorphisms in the HLA-B region with extended haplotypes. Immunogenetics 33: 4-11, 1991
19. Gallagher, G., Eskdale, J., Oh, H., Richards, S.D., Campbell, D.A., and Field, M. Polymorphisms in the TNF gene cluster and MHC serotypes in the West of Scotland. Immunogenetics 45: 188-194, 1997
20. Gregersen, P. K., Kao, H., Nunez-Ronald, A., Hurley, C.K., Karr, R.W., and Silver, J. Recombination sites in the HLA class II region are haplotype depedent. J Immunol 141: 1365-1368, 1988
21. Imanishi, T., Akaza, T., Kimura, A., Tokunaga, K., and Gojobori, T. Allele and haplotype frequencies for HLA and complement loci in various ethnic groups. In K. Tsuji, M. Aizawa, and T. Sasazuki (eds.): HLA 1991, pp. 1065-1220, Oxford University Press, Oxford, 1992
22. Iris, F.J.M., Bougueleret, L., Prieur, S., Caterina, D., Primas, G., Perrot, V., Jurka, J., Rodriguez-Tome, P., Claverie, J.M., Dausset, J., and Cohen, D. Dense Alu clustering and a potential new member of the NFκB family within a 90 kilobase HLA class III segment. Nat Genet 3: 137-143, 1993
23. Jongeneel, C.V., Briant, L., Udalova, I.A., Sevin, A., Nedospasov, S.A., and Cambon-Thomsen, A. Extensive genetic polymorphism in the human tumor necrosis factor region and relation to extended HLA haplotypes. Proc Natl Acad Sci USA 88: 9717-9721, 1991
24. Kimura, A., Dong, R.P., Harada, H., and Sasazuki, T. DNA typing of class II genes in B-lymphoblastoid cell lines homozygous for HLA. Tissue Antigens 40: 5-12, 1992
25. Lafuse, W.J., Lanning, D., Spies, T., and David, C.S. PFGE mapping and RFLP analysis of the S/D region of the mouse H2 complex. Immunogenetics 36: 110-116, 1992
26. Levo, A., Westman, P., and Partanen, J. An approach to mapping haplotype-specific recombination sites in human MHC class III. Immunogenetics 43: 136-140, 1996
27. Martin, M., Mann, D., and Carrington, M. Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes. Hum Mol Genet 4: 423-428, 1995
28. Messer, G., Spengler, U., Jung, M.C., Honold, G., Blomer, K., Pape, G.R., Riethmullaer, G., and Weiss, E.H. Polymorphic structure of the tumor necrosis factor (TNF) locus: an Ncol polymorphism in the first intron of the human TNF-β gene correlates with a variant amino acid in position 26 and a reduced level of TNF-β production. J Exp Med 173: 209-219, 1991
29. Milner, C. and Campbell R. Polymorphism analysis of the three MHC-linked HSP70 genes. Immunogenetics 36: 357-362, 1992
30. Nedospasov, S.A., Shakhov, A.N., Turetskaya, R.L., Mett, V.A., Azizov, M.M., Georgiev, G.P., Korohko, V.G., Dobrynin, V.N., Filippov, S.A., Bystrov, N.S., Boldyreva, E.F., Chuvpilo, S.A., Chumakov, A.M., Shingarova, L.N., and Ovchinnikov, Y.A. Tandem arrangement of genes coding for tumor necrosis factor (TNF-a) and lymphotoxin (TNF-b) in the human genome. Cold Spring Harbor Symp Quant Biol 51: 611-624, 1986
31. Partanen, J. and Koskimies, S. Low degree of DNA polymorphism in the HLA-linked lymphotoxin (Tumour Necrosis Factor b) gene. Scand J Immunol 28: 313-316, 1988
32. Prasad, V.K. and Yang, S.Y. Allele assignment for HLA-A, -B, and -C genes to the Tenth International Histocompatibility Workshop cell lines. Tissue Antigens 47: 538-546, 1996
33. Satyanarayana, K. and Strominger, J.L. DNA sequences near a meiotic recombinational breakpoint within the human HLA-DQ region. Immunogenetics 35: 235-240, 1992
34. Schneider, P.M. C4 DNA RFLP reference typing report. Complement Inflamm 7: 218-224, 1990
35. Sim, E. and Cross, S.J. Phenotyping of human complement component C4, a class III antigen. Biochem J 239: 763-767, 1986
36. Thomsen, M., Neugebauer, M., Arnaud, J., Borot, N., Sevin, A., Baur, M., and Cambon-Thomsen, A. Recombination fractions in the HLA system based on the data set "Province Françaises": indications of haplotype-specific recombination rates. Eur J Immunogenet 21: 33-43, 1994
37. Thomsen, M., Alclay, D., Barmada, M., Borelli, I., Breda-Coimbra, H., Cambon-Thomsen, A. Carpenter, C.B., Carrington, M., Chiewsilp, P., Christiansen, F., D'Alfonso, S., Dawkins, R., Delaney, N., Ferencik, S., Foissa, A., Gonzales-Escribano, M.F., Holdsworth, R., Ikaheimo, I., Klitz, W., Lindemann, M., Martinetti, M., Moghaddam, P.H., Moine, A., Moraes, M.E., Moraes, J.R., Rebmann, V., Sevin, A., Sirén, M.K., and Schmeckpeper, B., MHC recombinat families. In D. Charron (ed.): Genetic Diversity of HLA: Functional and Medical Implications, pp. 188-193. EDK, Sevres, 1997
38. Tonks, S., Marsh, S.G.E., Bunce, M., Moses, J.H., Krausa, P., Sadler, A.M., Petronzelli, F., and Bodmer, J.G. HLA class I DNA typing study. In D. Charron (ed.): Genetic Diversity of HLA: Functional and Medical Implications, pp. 199-215, EDK, Sevres, 1997
39. Udalova, I.A., Nedospasov, S.A., Webb, G.C., Chaplin, D.D., and Turetskaya, R.L. Highly informative typing of the human TNF locus using six adjacent polymorphic markers. Genomics 16: 180-186, 1993
40. Uematsu, Y., Lindahal, K., and Steinmez, M. The same MHC recombinational hotspot are active in crossing-over between wild/wild and wild/inbred mouse chromosomes. Immunogenetics 27: 96-101, 1988
41. White, P.C., New, M.I., and Dupont, B. Structure of human steroid 21-OH hydroxylase genes. Proc Natl Acad Sci USA 83: 5111-5115, 1986
42. Wilson, A.G., de Vries, N., Pociot, F., di Giovine, F.S., van der Putte, L.B., and Duff, G.W. An allelic polymorphism within the human tumour necrosis factor alpha promoter region is strongly associated with HLA A1, B8, and DR3 alleles. J Exp Med 177: 557-560, 1993
43. Yoshino, M., Sagai, T., Lindahl, K.F., Toyoda, Y., Shiroishi, T., and Moriwaki, K. No dosage effect of recombinational hotspots in the mouse major histocompatibility complex. Immunogenetics 39: 381-389, 1994