HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy

Immunogenetics

Volumn 46, Issue 5, 1997, Pages 410-417

  Ellis, Michael C ^a   Hetisimer, Angela H ^a,d   Ruddy, David A ^a   Hansen, Sherry L ^a   Kronmal, Gregory S ^a   McClelland, Erin ^a   Quintana, Leah ^a   Drayna, Dennis T ^a,e   Aldrich, Michael S ^b   Mignot, Emmanuel ^c  

^a Mercator Genetics Inc   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; HLA ANTIGEN CLASS 2; HLA DQ ANTIGEN; HLA DR ANTIGEN; MICROSATELLITE DNA;

ARTICLE; CLINICAL ARTICLE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; HYBRID CELL; IMMUNOGENETICS; MARKER GENE; NARCOLEPSY; PRIORITY JOURNAL;

CAUSALITY; CHROMOSOME MAPPING; GENETIC MARKERS; GENOMIC LIBRARY; GENOTYPE; HAPLOTYPES; HISTOCOMPATIBILITY TESTING; HLA-DQ ANTIGENS; HUMANS; MICROSATELLITE REPEATS; NARCOLEPSY; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 9844259473     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510050295     Document Type: Article

References (58)

1. Abderrahim, H., Sambucy, J.-L., Iris. F., Oligen, P., Billault, A., Chumakov, I. M., Dausset, J., Cohen. D., and Le Paslier, D. Cloning the human major histocompatibility complex in YACs. Genomics 23: 520-527, 1994
2. Aldrich, M. S. The neurobiology of narcolepsy-cataplexy. Prog Neurobiol 41: 533-541, 1993
3. Aldrich, M. S., Prokopowicz, G., Ockert, K., Hollingsworth, Z., Penney, J. B., and Albin, R. L. Neurochemical studies of human narcolepsy: alpha-adrenergic receptor autoradiography of human narcoleptic brain and brainstem. Sleep 17: 598-608, 1994
4. Altschul, S. F., Gish, W., Miller, W., Myers, E. W., and Lipman, D. J. Basic local alignment search tool. J Mol Biol 215: 403-410, 1990
5. Andreas-Zietz, A., Keller, E., Roth, B., Nevsimalova, S., Sonka, K., Docekal, P., Ivaskova, E., Kupkova, L., Sadjlova, H., Schulz, H., Geisler, P., Scholz, S., and Albert, E. The Occurence of HLA DR2 in 118 Narcoleptics. Fifth International Congress of Sleep Research, Copenhagen, Denmark, 1987
6. Beckmann, J. S. and Weber, J. L. Survey of human and rat microsatellites. Genimics 12: 627-631, 1992
7. Begovich, A. B., McClure, G. R., Suraj, V. C., Helmuth, R. C., Fildes, N., Bugawan, T. L., Erlich, H. A., and Klitz, W. Polymorphism, recombination, and linkage disequilibrium within the HLA class II region. J Immunol 148: 249-58, 1992
8. Billiard, M. Seignalet, J., Besset, A., and Cadilhac, J. HLA-DR2 and narcolepsy. Sleep 9: 149-52, 1986
9. Billiard, M., Pasquie-Magnetto, V., Heckman, M., Carlander, B., Besset, A., Zachariev, Z., Eliaou, J. F., and Malafosse, A. Family studies in narcolepsy. Sleep 17: S54-S59, 1994
10. Carlander, B., Eliaou, J. F., and Billiard, M. Autoimmune hypothesis in narcolepsy. Neurophysiol Clin 23: 15-22, 1993
11. Chu, G., Vollrath, D., and Davis, R. W. Separation of large DNA molecules by contour-clamped homogeneous electric fields. Science 234: 1582-1585, 1986
12. Erlich, S. S. and Itabashi, H. H. Nareolepsy: a neuropathologic study. Sleep 9: 126-132, 1986
13. Fernandez-Vina, M. A., Gao, X. J., Moraes, M. E., Moraes, J. R., Salatiel, I., Miller, S., Tsai, J., Sun, Y. P., An, J. B., Layrisse, Z., Gazit, E., Brautbar, C., and Stastny. P. Alleles at four HLA class II loci determined by oligonucleotide hybridization and their associations in five ethnic groups. Immunogenetics 34: 299-312, 1991
14. Ferrin, L. J. and Camerini-Otero, R. D. Selective cleavage of human DNA: recA-assisted restriction endonuclease (RARE) cleavage. Science 254: 1494-1497, 1991
15. Fredrikson, S., Carlander, B., Billiard, M., and Link, H. CSF immune variables in patients with narcolepsy. Acta Neurol Scand 81: 253-254, 1990
16. Gillett, W., Hanks, L., Ka-Shung Wong, G., Yu, J., Lim, R., and Olson, M. V. Assembly of high-resolution restriction maps based on multiple complete digests of a redundant set of overlapping clones. Genomics 33: 389-408, 1996
17. Gnirke, A., Iadonato, S. P., Kwok, P.-Y, and Olson, M. V. Physical calibration of yeast artificial chromosome contig maps by recA-assisted restriction endonuclase (RARE) cleavage. Genomics 24: 199-210, 1994
18. Guilleminault, C., Mignot, E., and Grumet, F. C. Familial patterns of narcolepsy. Lancet 2: 1376-1379, 1989
19. Hillier, L. and Green, P. OSP: a computer program for choosing PCR and DNA sequencing primers. PCR Methods Appl 1: 124-8, 1991
20. Honda, Y. and Matsuki, K. Genetic aspects of narcolepsy. In M. Thorpy (ed.): Handbook of Sleep Disorders, pp. 217-234, Marcel Dekker, Inc., New York, 1990
21. Hudson, T., Stein, L., Gerety, S., Ma, J., Castle, A., Suva, J., Slonim, D., Baptista, R., Kruglyak, L., Xu, S., Hu, X., Colbert. A., Rosenberg. C., Reeve-Daly, M., Rozen, S., Hui, L., Wu, X., Vestergaard, C., Wilson, K., Bae, J., Maitra, S., Ganiatsas, S., Evans, C., DeAngelis, M., Ingalls, K., Nahf, R., Horton, L., Oskin, M., Collymore, A., Ye, W., Kouyoumjian, V., Zernsteva, I., Tarn, J., Devine, R., Courtney, D., Renaud, M., Nguyen, H., O'Connor, T., Fizames, C., Faure, S., Gyapay, G., Dib, C., Morissette, J., Orlin, J., Birren, B., Goodman, N., Weissenbach, J., Hawkins, T., Foote, S., Page, D., and Lander, E. An STS-based map of the human genome. Science 270: 1945-1954, 1995
22. Iadonato, S. P. and Gnirke, A. RARE-cleavage analysis of YACs. In D. Markie (ed.): Yeast Artificial Chromosome Protocols, pp. 75-85. Humana Press, Totowa, New Jersey, 1994
23. Jackson, C. L. Somatic cell hybrids. In N. C. Dracopoli, J. L. Haines, B. R. Korf, D. T. Moir, C. C. Morton, C. E. Scidman, J. G. Seidman. and D. R. Smith (eds.): Current Protocols in Human Genetics, J. Wiley and Sons, New York, 1994
24. Jin, L., Macaubas, C., Hallmayer, J., Kimura, A., and Mignot, E. Mutation rate varies among alleles at a microsatellite locus: phylogenetic evidence. Proc Natl Acad Sci USA 93: 15285-15288, 1996
25. Juji, T., Satake, M., Honda, Y., and Doi, Y. HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. Tissue Antigens 24: 316-319, 1984
26. Kales, A., Cadieux, R. J., Soldatos, C. R., Bixler, E. O., Schweitzer, P. K., Prey, W. T., and Vela-Bueno, A. Narcolepsy-cataplexy, I. Clinical and electrophysiologic characteristics. Arch Neurol 39: 164-168, 1982
27. Kozono, H., Bronson, S. K., Taillon-Miller, P., Moorti, M. K., Jamry, I., and Chaplin, D. D. Molecular linkage of the HLA-DR, HLA-DQ, and HLA-DO genes in yeast artificial chromosomes. Genomics 11: 577-86, 1991
28. Lin, L., Kuwata, S., Tokunaga, K., Sasaki, T., Honda, Y, and Juji, T. Analysis of HLA class II genes by single-strand confirmation polymorphisms in narcolepsy. In K. Tsuji, M. Aizawa, and T. Sasasuki (eds.): HLA 1991: Proceedings of the Eleventh International Histocompatibility Workshop and Conference, pp. 333-335, Oxford University Press, New York, 1992
29. n Microsatellite Repeats from Large-Insert Clones. In N. C. Dracopoli, J. L. Haines, B. R. Korf, D. T. Moir, C. C. Morton, C. E. Seidman, J. G. Seidman, and D. R. Smith (eds.): Current Protocols in Human Genetics, J. Wiley and Sons, New York, 1994
30. Lock, C. B., So, A. K., Welsh, K. I., Parkes, J. D., and Trowsdale, J. MHC class II sequences of an HLA-DR2 narcoleptic. Immunogenetics 27: 449-55, 1988
31. Macaubas, C., Hallmayer. J., Kalil, J., Kimura, A., Yasunaga, S., Grumet, F. C., and Mignot, E. Extensive polymorphism of a (CA)n microsatellite located in the HLA-DQA1/DQB1 class II region. Hum Immunol 42: 209-220, 1995
32. Mignot, E., Lin, X., Arrigoni, J., Macaubas, C., Olive, F., Hallmayer, J., Underhill, P., Guilleminault, C., Dement, W. C., and Grumet, F. C. DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and Black Americans. Sleep 17: S60-S67, 1994
33. Mignot, E., Kimura, A., Abbal, M., Thorsby, E., Lin, X., Voros, A., Macaubas, C., Bouissou, F., Sollid, L. M., Cambon-Thomsen, A., and et al. DQCAR microsatellite polymorphisms in three selected HLA class II-associated diseases. Tissue Antigens 46: 299-304, 1995a
34. Mignot, E., Tafti, M., Dement, W. C., and Grumet, F. C. Narcolepsy and immunity. Adv Neuroimmunol 5: 23-37, 1995b
35. Mignot, E., Kimura, A., Latterman, A., Lin, X., Yasunaga, S., Mueller-Eckardt, G., Rattazzi, C., Lin, L., Guilleminault, C., Grumet, F. C., Mayer, G., Dement, W. C., and Underbill, P. Extensive HLA class II studies in 58 non DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens 49: 329-341, 1997
36. Mignot, E. Genetic and familial aspects of narcolepsy. Neurology, in press
37. Mueller-Eckhardt, G., Meier-Ewert, K., Schendel, D. J., Reinecker, F. B., Multhoff, G., and Mueller-Eckhardt, C. HLA and narcolepsy in a German population. Tissue Antigens 28: 163-169, 1986
38. Myers, R. M., Sheffield, V. C., and Cox, D. R. Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. In K. Davies (ed.): Genome Analysis: A Practical Approach, pp. 95-139, IRL Press, Oxford, 1988
39. Neely, S. E., Rosenberg, R. S., Spire, J. P., Antel, J., and Arnason, W. Familial narcolepsy and HLA antigens. Ann Neurol 20: 168, 1986
40. Neely, S., Rosenberg, R., Spire, J. P., Antel, J., and Arnason, B. G. HLA antigens in narcolepsy. Neurology 37: 1858-1860, 1987
41. Nishino, S. and Mignot, E. Pharmacological aspects of human and canine narcolepsy. Prog Neumbiol 52: 27-78, 1997
42. Olerup, O. and Zetterquist, H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 39: 225-235, 1992
43. Olerup, O., Aldener, A., and Fogdell, A. HL4-DQB1 and -DQA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours. Tissue Antigens 41: 119-34, 1993
44. Parkes, J. D., Langdon, N., and Lock, C. Narcolepsy and immunity. Br Med J (Clin Res Ed) 292: 359-360, 1986
45. Partinen, M., Hublin, C., Kaprio, J., Koskenvuo, M., and Guilleminault. C. Twin studies in narcolepsy. Sleep 17: S13-S16, 1994
46. Poirier, G., Montplaisir, J., Decary, F., Momege, D., and Lebrun, A. HLA antigens in narcolepsy and idiopathic central nervous system hypersomnolence. Sleep 9: 153-158, 1986
47. Rogers, A. E., Mehan, J., Guilleminault, C., Grumet, F. C., and Mignot, E. HLA DR 15 (DR2) and DQB1*0602 typing studies in 188 narcoleptic patients with cataplexy. Neurology 48: 1550-1556, 1997
48. Rubin, R. L., Hajdukovich, R. M., and Mitler, M. M. HLA-DR2 association with excessive somnolence in narcolepsy does not generalize to sleep apnea and is not accompanied by systemic autoimmune abnormalities. Clin Immunol Immunopathol 49: 149-158, 1988
49. Ruddy, D. A., Lee, V. K., Kronmal, G. S., Mintier, G. A., Quintana, L., Domingo, R., Meyer, N. C., Basava, A., McClelland, E., Fullan, A., Mapa, F. A., Moore, T., Thomas, W., Loeb, D. B., Harmon, C., Tsuchihashi, Z., Wolff, R. K., Schatzman, R. C., and Feder, J. N. A 1.1 megabase transcript map of the hereditary hemochromatosis locus. Genome Res 7: 441-456, 1997
50. Scharf, S. J., Horn, G. T., and Erlich, H. A. Direct cloning and sequence analysis ot enzymatically amplified genomic sequences. Science 233: 1076-1078, 1986
51. Siegel, J. M., Fahringer, H. M., Andersen, L., Nienhuis, R., Gulyani, S., Massiri, J., Mignot, E., and Switzer, R. C. Evidence of localized neuronal degeneration in narcolepsy: studies in the narcoleptic dog. Sleep Research 24: 354, 1995
52. Tafti, M., Nishino, S., Aldrich, M. S., Liao, W., Dement, W. C., and Mignot, E. Major histocompatibility class II molecules in the CNS: increased microglial expression at the onset of narcolepsy in canine model. J Neurosci 16: 4588-4595, 1996
53. Uberbacher, E. C., Xu, Y., and Mural, R. J. Discovering and understanding genes in human DNA sequence using GRAIL. Meth Enzvmol 266: 259-281, 1996
54. Uryu, N., Maeda, M., Nagata, Y., Matsuki, K., Juji, T., Honda, Y., Kawai, J., Ando, A., Tsuji, K., and Inoko, H. No difference in the nucleotide sequence of the DQ beta beta 1 domain between narcoleptic and healthy individuals with DR2,Dw2. Hum Immunol 24: 175-81, 1989
55. Weber, J. L. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics 7: 524-30, 1990
56. Weber, J. L. and May, P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44: 388-396, 1989
57. Wolff, R. K., Frazer, K. A., Jackler, R. K., Lanser, M. J., Pitts, L. H., and Cox, D. R. Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am J Hum Genet 51: 478-485, 1992
58. Yasunaga, S., Kimura, A., Hamaguchi, K., Ronningen, K. S., and Sasazuki, T. Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulin-dependent diabetes mellitus (IDDM). Tissue Antigens 47: 37-48, 1996