PMID- 10369924
OWN - NLM
STAT- MEDLINE
DCOM- 19990722
LR  - 20201209
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 49
IP  - 7-8
DP  - 1999 Jul
TI  - The central MHC gene IKBL carries a structural polymorphism that is associated
      with HLA-A3,B7,DR15.
PG  - 660-5
AB  - Susceptibility to several disorders, including insulin-dependent diabetes
      mellitus and multiple sclerosis, has been associated with alleles of HLA class II
      genes and loci in the TNF cluster in the central major histocompatibility complex
      (MHC) region. As recombination within this region is rare, it is difficult to
      determine which genes are important. This will be facilitated by the
      identification of functional polymorphisms. Hence we are sequencing reverse
      transcription-polymerase chain reaction products derived from central MHC genes
      in well characterized and conserved ancestral haplotypes. Here we address the
      IKBL gene, which lies near the TNF cluster at the telomeric end of the central
      MHC. Although the IKBL cDNA sequence was conserved between most ancestral
      haplotypes, a synonymous nucleotide substitution, a 3' untranslated region
      substitution, and a single nonsynonymous substitution were identified. The latter
      (IKBL+738) was present in multiple examples of the 7.1 haplotype [HLA-A3, B7, DR2
      (DR15)] and resulted in a cysteine to arginine substitution in a predicted
      protein kinase C phosphorylation site. This polymorphism did not occur in 18
      other common haplotypes from the 10th International Histocompatibility Workshop
      and thus appears haplospecific. A role for IKBL+738 in the association between
      HLA-A3,B7,DR2(DR15) and susceptibility to multiple sclerosis is discussed.
FAU - Allcock, R J
AU  - Allcock RJ
AD  - Department of Biochemistry, University of Western Australia, Nedlands 6009,
      Western Australia. rallcock@dci.uwa.edu.au
FAU - Christiansen, F T
AU  - Christiansen FT
FAU - Price, P
AU  - Price P
LA  - eng
SI  - GENBANK/AF097419
SI  - GENBANK/AF097420
SI  - GENBANK/AF097421
SI  - GENBANK/AF097422
SI  - GENBANK/AF097423
SI  - GENBANK/AF097424
SI  - GENBANK/AF097425
SI  - GENBANK/AF097426
SI  - GENBANK/AF097427
SI  - GENBANK/AF097428
SI  - GENBANK/AF097429
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (DNA, Complementary)
RN  - 0 (HLA-A3 Antigen)
RN  - 0 (HLA-B7 Antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DR Serological Subtypes)
RN  - 0 (HLA-DR15 antigen)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (NF-kappa B)
RN  - 0 (NFKBIL1 protein, human)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cell Line, Transformed
MH  - DNA, Complementary
MH  - HLA-A3 Antigen/*genetics
MH  - HLA-B7 Antigen/*genetics
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DR Serological Subtypes
MH  - Haplotypes
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Humans
MH  - Molecular Sequence Data
MH  - NF-kappa B/*genetics
MH  - *Polymorphism, Genetic
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - 90490660.251 [pii]
AID - 10.1007/s002510050662 [doi]
PST - ppublish
SO  - Immunogenetics. 1999 Jul;49(7-8):660-5. doi: 10.1007/s002510050662.