Population genetic studies of HLA-E: Evidence for selection

Human Immunology

Volumn 52, Issue 1, 1997, Pages 33-40

  Grimsley, Carrie ^a   Ober, Carole ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CYTOTOXIC T LYMPHOCYTE; ETHNOLOGY; GENE FREQUENCY; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HLA SYSTEM; HUMAN; IMMUNOGENETICS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; ANIMALS; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENOTYPE; GORILLA GORILLA; HAPLOTYPES; HISPANIC AMERICANS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MOLECULAR SEQUENCE DATA; PAN TROGLODYTES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SELECTION (GENETICS);

EID: 0031030340     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(96)00241-8     Document Type: Article

References (45)

1. 1. Shimizu Y, Geraghty DE, Koller BH, Orr HT, DeMars R: Transfer and expression of three cloned human non-HLA-A, B, C class I histocompatibility complex genes in mutant lymphoblastoid cells. Proc Natl Acad Sci USA 85: 227, 1988.
2. 2. Geraghty DE: Structure of the HLA class I region and expression of its resident genes. Curr Opin Immunol 5:3, 1992.
3. 3. Boucraut J, Guillaudeux T, Alizadeh M, Boretto J, Chimini G, Malecaze F, Semana G, Fauchet R, Pontarotti P, Le Bouteiller P: HLA-E is the only class I gene that escapes CpG methylation and is transcriptionally active in the trophoblast-derived human cell line JAR. Immunogenetics 38:117, 1993.
4. 4. Geraghty DE, Wei X, Orr HT, Koller BH: Human leukocyte antigen F (HLA-F): an expressed HLA gene composed of a class I coding sequence linked to a novel transcribed repetitive element. J Exp Med 171:1, 1990.
5. 5. Houlihan JM, Biro PA, Fergar-Payne A, Simpson KL, Holmes CH: Evidence for the expression of non-HLA-A, -B, -C class I genes in the human fetal liver. J Immunol 149:668, 1992.
6. 6. Koller BH, Geraghty DE, Shimizu Y, DeMars D, Orr HT: HLA-E: A novel class I gene expressed in resting T lymphocytes. J Immunol 141:897, 1988.
7. 7. Wei X, Orr HT: Differential expression of HLA-E, -F and HLA-G transcripts in human tissue. Hum Immunol 29: 131, 1990.
8. 8. Bodmer JG, Marsh SGE, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B: Nomenclature for factors of the HLA system. Hum Immunol 34:4, 1991.
9. 9. Geraghty DE, B. H. K, Orr HT: A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic tail. Proc Natl Acad Sci USA 84:9145, 1987.
10. 10. Hughes AL, Nei M: Pattern of nucleotide substitution at major histocompatibility complex loci reveals overdominant selection. Nature 335:167, 1988.
11. 11. Hughes AL, Ota T, Nei M: Positive Darwinian selection promotes charge profile diversity in the antigen-binding cleft of class I major histocompatibility complex molecules. Mol Biol Evol 7:515, 1990.
12. 12. Nei M, Hughes AL: Polymorphism and evolution of the major histocompatibility complex loci in mammals. In Selander RK, Clark AG, Whittam TS (eds): Evolution at the Molecular Level. Sunderland, Massachusetts, Sinauer Associates, 1991, p 222.
13. 13. Geraghty DE, Stockschleader M, Ishitani A, Hansen J: Polymorphism at the HLA-E locus predates most HLA-A and -B polymorphism. Hum Immunol 33:174, 1992.
14. 14. Boyson JE, McAdam SN, Gallimore A, Golos TG, Liu X, Gotch FM, Hughes AL, Watkins DL: The MHC E locus in macaques is polymorphic and is conserved between macaques and humans. Immunogenetics 41:59, 1995.
15. 15. Klein J, Figueroa F: Evolution of the major histocompatibility complex. CRC Crit Rev Immunol 6:295, 1986.
16. 16. Lawlor DA, Zemmour J, Ennis PD, Parham P: Evolution of class I MHC genes and proteins: from natural selection to thymic selection. Annu Rev Immunol 8:23, 1990.
17. 17. Ober C, Rosinsky B, Grimsley C, Robertson A, Runge A: Population genetic studies of HLA-G: allele frequencies and linkage disequilibrium with HLA-A. J Reprod Immunol (in press).
18. 18. van der Ven K, Ober C: HLA-G polymorphisms in African Americans. J Immunol 153:5628, 1994.
19. 19. Ober C, Xiang KS, Andrew K, Wason CJ, Dooley S: Increased risk for gestational onset diabetes mellitus associated with insulin receptor and insulin-like growth factor II RFLPs. Genet Epidemiol 6:559, 1989.
20. 20. Kostyu DD, Dawson DV, Elias S, Ober C: Deficit of HLA homozygotes in a healthy Caucasian isolate. Hum Immunol 37:135, 1993.
21. 21. Orita M, Iwahana H, Kanazawa H, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci, USA 86:2766, 1989.
22. 22. Fisher RA, Mather K: A linkage test with mice. Ann Eugen Lond 7:265, 1936.
23. 23. Trachtenberg EA, Erlich HA, Rickards O, DeStefano GF, Klitz W: HLA class II linkage disequilibrium and haplotype evolution in the Cayapa Indians of Ecuador. Am J Hum Genet 57:315, 1995.
24. 24. Cohen J: Statistical Power Analysis for the Behavioral Sciences. Hillsdale, New Jersey, Erlbaum, 1988.
25. 25. Watterson GA: The homozygosity test of neutrality. Genetics 88:405, 1978.
26. 26. Charlesworth D, Charlesworth B, Morgan MT: The pattern of neutral molecular variation under the background selection model. Genetics 141:1619, 1995.
27. 27. Anderson R: Some Stochastic Models in Population Genetics. Clayton, Victoria, Canada, Monash University, 1979.
28. 28. Hartl DL, Clark AG: Principles of Population Genetics. Sunderland, Massachusetts, Sinauer Associates, Inc., 1989.
29. 29. Watterson GA: Heterosis or neutrality? Genetics 35:789, 1977.
30. 30. Lawlor DA, Warren E, Ward FE, parham P: Comparison of class I MHC alleles in humans and apes. Immunol Rev 113:147, 1990.
31. 31. Mizuno S, Trapani JA, Koller BH, Dupont B, Yang SY: Isolation and nucleotide sequence of a cDNA clone encoding a novel HLA class I gene. J Immunol 140:4024, 1988.
32. 32. Ohya K, Kondo K, Mizuno S: Polymorphism in the human class I MHC locus HLA-E in Japanese. Immunogenetics 32:205, 1990.
33. 33. Begovich AB, McClure GR, Suraj VC, Helmuth RC, Fildes N, Bugawan TL, Erlich HA, Klitz W: Polymorphism, recombination, and linkage disequilibrium within the HLA class II region. J Immunol 148:249, 1992.
34. 34. Klitz W, Thomson G, Baur MP: Contrasting evolutionary histories among tightly linked HLA loci. Am J Hum Genet 39:340, 1986.
35. 35. Parham P: Antigen presentation by class I major histocompatibility complex molecules: a context for thinking about HLA-G. Am J Reprod Immunol 34:10, 1995.
36. 36. Cann RL, Stoneking M, Wilson AL: Mitochondrial DNA and human evolution. Nature 34:31, 1987.
37. 37. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AL: African populations and the evolution of human mitochondrial DNA. Science 253:1503, 1991.
38. 38. Hostetler JA: Hutterite Society. Baltimore, Johns Hopkins University Press, 1974.
39. 39. Bjorkman PJ, Saper MA, Samraoui B, Bennett WS, Strominger JL, Wiley DC: Structure of the human class I histocompatibility antigen, HLA-A2. Nature 329:506, 1987.
40. 40. Aparicio P, Vega MA, Lopez de Castro JA: One allogeneic cytolytic T lymphocyte clone distinguishes three different HLA-B27 subtypes: identification of amino acid residues influencing the specificity and avidity of recognition. J Immunol 135:3074, 1985.
41. 41. Domenech N, Ezquerra A, Castano R, Lopez de Castro JA: Structural analysis of HLA-A2.4 functional variant KNE: Implications for the mapping of HLA-A2-specific T-cell epitopes. Immunogenetics 27:196, 1988.
42. 42. Santos-Aguado J, Crimmins MAV, Mentzer SJ, Burakoff SJ, Strominger JL: Alloreactivity studied with mutants of HLA-A2. Proc Natl Acad Sci USA 86:8936, 1989.
43. 43. Hedrick PW, Thomson G: Evidence for balancing selection at HLA. Genetics 104:449, 1983.
44. 44. McDonald JH, Kreitman M: Adaptive protein evolution at the Adh locus in Drosophila. Nature 351:652, 1991.
45. 45. LeBouteiller P: HLA class I chromosomal region, genes, and products: facts and questions. Crit Rev Immunol 14: 89, 1994.