PMID- 19158813
OWN - NLM
STAT- MEDLINE
DCOM- 20100216
LR  - 20220408
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 54
IP  - 1
DP  - 2009 Jan
TI  - The HLA genomic loci map: expression, interaction, diversity and disease.
PG  - 15-39
LID - 10.1038/jhg.2008.5 [doi]
AB  - The human leukocyte antigen (HLA) super-locus is a genomic region in the 
      chromosomal position 6p21 that encodes the six classical transplantation HLA 
      genes and at least 132 protein coding genes that have important roles in the 
      regulation of the immune system as well as some other fundamental molecular and 
      cellular processes. This small segment of the human genome has been associated 
      with more than 100 different diseases, including common diseases, such as 
      diabetes, rheumatoid arthritis, psoriasis, asthma and various other autoimmune 
      disorders. The first complete and continuous HLA 3.6 Mb genomic sequence was 
      reported in 1999 with the annotation of 224 gene loci, including coding and 
      non-coding genes that were reviewed extensively in 2004. In this review, we 
      present (1) an updated list of all the HLA gene symbols, gene names, expression 
      status, Online Mendelian Inheritance in Man (OMIM) numbers, including new genes, 
      and latest changes to gene names and symbols, (2) a regional analysis of the 
      extended class I, class I, class III, class II and extended class II subregions, 
      (3) a summary of the interspersed repeats (retrotransposons and transposons), (4) 
      examples of the sequence diversity between different HLA haplotypes, (5) intra- 
      and extra-HLA gene interactions and (6) some of the HLA gene expression profiles 
      and HLA genes associated with autoimmune and infectious diseases. Overall, the 
      degrees and types of HLA super-locus coordinated gene expression profiles and 
      gene variations have yet to be fully elucidated, integrated and defined for the 
      processes involved with normal cellular and tissue physiology, inflammatory and 
      immune responses, and autoimmune and infectious diseases.
FAU - Shiina, Takashi
AU  - Shiina T
AD  - Division of Basic Medical Science and Molecular Medicine, Department of Molecular 
      Life Science, Tokai University School of Medicine, Isehara, Japan. 
      tshiina@is.icc.u-tokai.ac.jp
FAU - Hosomichi, Kazuyoshi
AU  - Hosomichi K
FAU - Inoko, Hidetoshi
AU  - Inoko H
FAU - Kulski, Jerzy K
AU  - Kulski JK
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20090109
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (HLA Antigens)
SB  - IM
MH  - *Chromosome Mapping
MH  - Disease/*genetics
MH  - Genetic Loci/*genetics
MH  - Genetic Predisposition to Disease
MH  - *Genetic Variation
MH  - HLA Antigens/*genetics
MH  - Humans
RF  - 184
EDAT- 2009/01/23 09:00
MHDA- 2010/02/17 06:00
CRDT- 2009/01/23 09:00
PHST- 2009/01/23 09:00 [entrez]
PHST- 2009/01/23 09:00 [pubmed]
PHST- 2010/02/17 06:00 [medline]
AID - jhg20085 [pii]
AID - 10.1038/jhg.2008.5 [doi]
PST - ppublish
SO  - J Hum Genet. 2009 Jan;54(1):15-39. doi: 10.1038/jhg.2008.5. Epub 2009 Jan 9.