Characterization and polymorphic analysis of 4.5 kb genomic full-length HLA-C in the Chinese Han population

Tissue Antigens

Volumn 78, Issue 2, 2011, Pages 102-114

  Xu, Y ^a   Deng, Z ^a   O'hUigin, C ^b   Wang, D ^a   Gao, S ^a   Zeng, J ^a   Yang, B ^a   Jin, S ^a   Zou, H ^a  

^a Shenzhen Blood Center   (China)

^b SAIC FREDERICK INC   (United States)

Author keywords

Evolution; Genomic full length; High fidelity polymerase chain reaction amplification; Human leukocyte antigen c; Single nucleotide polymorphisms

Indexed keywords

GENOMIC DNA; HLA C ANTIGEN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ARTICLE; CHINESE; DNA EXTRACTION; EXON; GENE CONVERSION; GENETIC VARIABILITY; HUMAN; HUMAN EXPERIMENT; INTRON; NONHUMAN; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; CHINA; ETHNIC GROUPS; HAPLOTYPES; HETEROZYGOTE; HLA-C ANTIGENS; HOMOZYGOTE; HUMANS; PHYLOGENY; POLYMORPHISM, GENETIC; POPULATION GROUPS; SEQUENCE ANALYSIS, DNA;

EID: 79959936147     PISSN: 00012815     EISSN: 13990039     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2011.01710.x     Document Type: Article

References (41)

1. Townsend A, Bodmer H. Antigen recognition by class I restricted T lymphocytes. Annu Rev Immunol 1989: 7: 601-24.
2. Fukami-Kobayashi K, Shiina T, Anzai T et al. Genomic evolution of MHC class I region in primates. Proc Natl Acad Sci U S A 2005: 102: 9230-4.
3. Colonna M, Brooks EG, Falco M, Ferrara GB, Strominger JL. Generation of allospecific natural killer cells by stimulation across a polymorphism of HLA-C. Science 1993: 260: 1121-4.
4. Katz G, Markel G, Mizrahi S, Arnon TI, Mandelboim O. Recognition of HLA-Cw4 but not HLA-Cw6 by the NK cell receptor killer cell Ig-like receptor two-domain short tail number 4. J Immunol 2001: 166: 7260-7.
5. Petersdorf EW, Longton GM, Anasetti C et al. Association of HLA-C disparity with graft failure after marrow transplantation from unrelated donors. Blood 1997: 89: 1818-23.
6. Sasazuki T, Juji T, Morishima Y et al. Effect of matching of class I HLA alleles on clinical outcome after transplantation of hematopoietic stem cells from unrelated donors. N Engl J Med 1998: 339: 1177-85.
7. Flomenberg N, Baxter-Lowe LA, Confer D et al. Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associated with a strong adverse effect on transplantation outcome. Blood 2004: 104: 1923-30.
8. Kawase T, Morishima Y, Matsuo K et al. Japan Marrow Donor Program. High-risk HLA allele mismatch combinations responsible for severe acute graft-versus-host disease and implication for its molecular mechanism. Blood 2007: 110: 2235-41.
9. Winter CC, Gumperz JE, Parham P, Long EO, Wagtmann N. Direct binding and functional transfer of NK cell inhibitory receptors reveal novel patterns of HLA-C allotype recognition. J Immunol 1998: 161: 571-7.
10. Brooks AG, Boyington JC, Sun PD. Natural killer cell recognition of HLA class I molecules. Rev Immunogenet 2000: 2: 433-48.
11. Boyington JC, Sun PD. A structural perspective on MHC class I recognition by killer cell immunoglobulin-like receptors. Mol Immunol 2002: 38: 1007-21.
12. Thomas R, Apps R, Qi Y et al. HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. Nat Genet 2009: 41: 1290-4.
13. Braud VM, Allan DS, Wilson D, McMichael AJ. TAP- and tapasin-dependent HLA-E surface expression correlates with the binding of an MHC class I leader peptide. Curr Biol 1998: 8: 1-10.
14. Hebert AM, Strohmaier J, Whitman MC et al. Kinetics and thermodynamics of beta 2-macroglobulin binding to the alpha 3 domain of major histocompatibility complex class I heavy chain Biochemistry. Biochemistry 2001: 40: 5233-42.
15. Salter R, Benjamin RJ, Wesley PK et al. A binding site for the T-cell co-receptor CD8 on the alpha 3 domain of HLA-A2. Nature 1990: 345: 41-6.
16. Brémond A, Meynet O, Mahiddine K et al. Regulation of HLA class I surface expression requires CD99 and p230/golgin-245 interaction. Blood 2009:113: 347-57.
17. Watanabe Y, Magor KE, Parham P. Exon 5 encoding the transmembrane region of HLA-A contains a transitional region for the induction of nonsense-mediated mRNA decay. J Immunol 2001: 167: 6901-11.
18. Hanvesakul R, Maillere B, Briggs D, Baker R, Larché M, Ball S. Indirect recognition of T-cell epitopes derived from the alpha 3 and transmembrane domain of HLA-A2. Am J Transplant 2007: 7: 1148-57.
19. Schaefer MR, Williams M, Kulpa DA, Blakely PK, Yaffee AQ, Collins KL. A novel trafficking signal within the HLA-C cytoplasmic tail allows regulated expression upon differentiation of macrophages. J Immunol 2008: 180: 7804-17.
20. Robinson J, Malik A, Parham P, Bodmer JG, Marsh SGE. IMGT/HLA - a sequence database for the human major histocompatibility complex. Tissue Antigens 2000: 55: 280-7.
21. Cereb N, Kong Y, Lee S, Maye P, Yang SY. Nucleotide sequences of MHC class I introns 1, 2 and 3 in humans and intron 2 in non human primates. Tissue Antigens 1996: 47: 498-511.
22. Cereb N, Hughes AL, Yang SY. Locus-specific conservation of the HLA class I introns by intra-locus homogenization. Immunogenetics 1997: 47: 30-6.
23. Blasczyk R, Kotsch K, Wehling J. The nature of polymorphism of the HLA class I non-coding regions and their contribution to the diversification of HLA. Hereditas 1997: 127: 7-9.
24. Cox ST, McWhinnie AJ, Robinson J et al. Cloning and sequencing full-length HLA-B and - C genes. Tissue Antigens 2003: 61: 20-48.
25. Beck S, Trowsdale J. The human major histocompatability complex: lessons from the DNA sequence. Annu Rev Genomics Hum Genet 2000: 1: 117-37.
26. Deng Z, Wang D, Xu Y et al. HLA-C polymorphisms and PCR dropout in exons 2 and 3 of the Cw*0706 allele in sequence-based typing for unrelated Chinese marrow donors. Hum Immunol 2010: 71: 577-81.
27. Heinold A, Schaller-Suefling E, Opelz G, Scherer S, Tran TH. Identification of two novel HLA-alleles, HLA-A*02010103 and HLA-B*4455, and characterization of the complete genomic sequence of HLA-A*290201. Tissue Antigens 2008: 72: 397-400.
28. Parham P, Ohta T. Population biology of antigen presentation by MHC class I molecules. Science 1996: 272: 67-74.
29. Martinsohn, JT, Sousa AB, Guethlein LA, Howard JC. The gene conversion hypothesis of MHC evolution: a review. Immunogenetics 1999: 50: 168-200.
30. Elsner, HA, Blasczyk R. The phylogenies of introns 4-7 demonstrate an inconsistent pattern between human leukocyte antigen-C group topologies. Tissue Antigens 2004: 63: 109-21.
31. Kriener K, O'hUigin C, Tichy H, Klein J. Convergent evolution of major histocompatibility complex molecules in humans and New World monkeys. Immunogenetics 2000: 51: 169-78.
32. Thompson JD, Gibson TJ, Plewniak F, Jeanmougin F, Higgins DG. The CLUSTAL-X windows interface: flexible strategies for multiple sequences alignment aided by quality analysis tools. Nucleic Acids Res 1997: 25: 4876-82.
33. Rozas J, Sanchez-DelBarrio JC, Messeguer X, Rozas R. DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003: 19: 2496-7.
34. Nei M. Molecular Evolutionary Genetics. New York: Columbia University Press, 1987.
35. Nei M, Gojobori T. Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions. Mol Biol Evol 1986: 3: 418-26.
36. Tamura K, Dudley J, Nei M, Kumar S. MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0. Mol Biol Evol 2007: 24: 1596-9.
37. Marsh, SGE, Albert ED, Bodmer WF et al. Nomenclature for factors of the HLA system, 2010. Tissue Antigens 2010: 75: 291-455.
38. Hughes AL, Nei M. Pattern of nucleotide substitution at MHC class I loci reveals overdominant selection. Nature 1988: 235: 167-70.
39. Van den Elsen PJ, Gobin SJ, van Eggermond MC, Peijnenburg A. Regulation of MHC class I and II gene transcription: differences and similarities. Immunogenetics 1998: 48: 208-21.
40. McCutcheon JA, Gumperz J, Smith KD, Lutz CT, Parham P. Low HLA-C expression at cell surfaces correlates with increased turnover of heavy chain mRNA. J Exp Med 1995: 181: 2085-95.
41. Rousseau P, Le Discorde M, Mouillot G, Marcou C, Carosella ED, Moreau P. The 14 bp deletion-insertion polymorphism in the 3'UT region of the HLA-G gene influences HLA-G mRNA stability. Hum Immunol 2003: 64: 1005-10.