Human MHC architecture and evolution: implications for disease association studies

作者: J. A. Traherne

DOI: 10.1111/J.1744-313X.2008.00765.X

关键词:

摘要: Major histocompatibility complex (MHC) variation is a key determinant of susceptibility and resistance to large number infectious, autoimmune other diseases. Identification the MHC variants conferring disease problematic, due high levels linkage disequilibrium. Recent cataloguing analysis over complete has facilitated localization loci for diseases, provided insight into MHC's evolution. This review considers how unusual genetic characteristics impact on strategies identify causing, or contributing to, phenotypes. It also in relation novel mechanisms influencing gene function regulation, such as epistasis, epigenetics microRNAs. These developments, along with recent technological advances, shed light association disease.

参考文章(96)
Benjamin F Voight, Sridhar Kudaravalli, Xiaoquan Wen, Jonathan K Pritchard, A Map of Recent Positive Selection in the Human Genome PLOS Biology. ,vol. 4, pp. 446- 458 ,(2006) , 10.1371/JOURNAL.PBIO.0040072
Adrian Gherman, Peter E Chen, Tanya M Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, Aravinda Chakravarti, James R Lupski, David J Cutler, Nicholas Katsanis, Population bottlenecks as a potential major shaping force of human genome architecture. PLOS Genetics. ,vol. 3, pp. 1223- 1231 ,(2005) , 10.1371/JOURNAL.PGEN.0030119
Victor Apanius, Dustin Penn, Patricia R. Slev, L. Ramelle Ruff, Wayne K. Potts, The Nature of Selection on the Major Histocompatibility Complex Critical Reviews in Immunology. ,vol. 17, pp. 179- 224 ,(1997) , 10.1615/CRITREVIMMUNOL.V17.I2.40
Aparna Raval, Stephan M. Tanner, John C. Byrd, Elizabeth B. Angerman, James D. Perko, Shih-Shih Chen, Björn Hackanson, Michael R. Grever, David M. Lucas, Jennifer J. Matkovic, Thomas S. Lin, Thomas J. Kipps, Fiona Murray, Dennis Weisenburger, Warren Sanger, Jane Lynch, Patrice Watson, Mary Jansen, Yuko Yoshinaga, Richard Rosenquist, Pieter J. de Jong, Penny Coggill, Stephan Beck, Henry Lynch, Albert de la Chapelle, Christoph Plass, Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell. ,vol. 129, pp. 879- 890 ,(2007) , 10.1016/J.CELL.2007.03.043
Ga�l Mouillot, C�line Marcou, Philippe Rousseau, Nathalie Rouas-Freiss, Edgardo D. Carosella, Philippe Moreau, HLA‐G gene activation in tumor cells involves cis‐acting epigenetic changes International Journal of Cancer. ,vol. 113, pp. 928- 936 ,(2005) , 10.1002/IJC.20682
Andrew P. Feinberg, Phenotypic plasticity and the epigenetics of human disease Nature. ,vol. 447, pp. 433- 440 ,(2007) , 10.1038/NATURE05919
Louise H. Boyle, James A. Traherne, Gemma Plotnek, Rosemary Ward, John Trowsdale, Splice variation in the cytoplasmic domains of myelin oligodendrocyte glycoprotein affects its cellular localisation and transport1 Journal of Neurochemistry. ,vol. 102, pp. 1853- 1862 ,(2007) , 10.1111/J.1471-4159.2007.04687.X
Francisco Adrian Cabestre, Sophie Lefebvre, Philippe Moreau, Nathalie Rouas-Friess, Jean Dausset, Edgardo D. Carosella, Pascale Paul, HLA-G expression: immune privilege for tumour cells? Seminars in Cancer Biology. ,vol. 9, pp. 27- 36 ,(1999) , 10.1006/SCBI.1998.0104
Roger Horton, Richard Gibson, Penny Coggill, Marcos Miretti, Richard J Allcock, Jeff Almeida, Simon Forbes, James GR Gilbert, Karen Halls, Jennifer L Harrow, Elizabeth Hart, Kevin Howe, David K Jackson, Sophie Palmer, Anne N Roberts, Sarah Sims, C Andrew Stewart, James A Traherne, Steve Trevanion, Laurens Wilming, Jane Rogers, Pieter J De Jong, John F Elliott, Stephen Sawcer, John A Todd, John Trowsdale, Stephan Beck, None, Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project Immunogenetics. ,vol. 60, pp. 1- 18 ,(2008) , 10.1007/S00251-007-0262-2
Sandra Rodríguez-Rodero, Segundo González, Luis Rodrigo, Juan L. Fernández-Morera, Jesús Martínez-Borra, Antonio López-Vázquez, Carlos López-Larrea, Transcriptional regulation of MICA and MICB: a novel polymorphism in MICB promoter alters transcriptional regulation by Sp1. European Journal of Immunology. ,vol. 37, pp. 1938- 1953 ,(2007) , 10.1002/EJI.200737031