PMID- 16916654
OWN - NLM
STAT- MEDLINE
DCOM- 20061222
LR  - 20131121
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 67
IP  - 8
DP  - 2006 Aug
TI  - Disulfide bridge disruption in the alpha2 domain of the HLA class I molecule 
      leads to low expression of the corresponding antigen.
PG  - 589-96
AB  - Using sequence-based typing, we have identified a novel human leukocyte antigen 
      (HLA)-A*30 allele, HLA-A*3014L, with a low expression pattern. The sequence of 
      HLA-A*3014L is identical to that of HLA-A*3001 except for a G to C substitution 
      in exon 3 at nucleotide position 563, resulting in an amino acid difference at 
      position 164 (Cys to Ser). Due to the cysteine substitution, a disulfide bridge 
      in the alpha2 domain of the HLA class I heavy chain cannot be formed. By using 
      the standard microlymphocytotoxicity test, the HLA-A30 antigen cannot be 
      detected. By flow cytometric analysis of the cell-surface expression at either 37 
      degrees C or 30 degrees C, a temperature-sensitive expression pattern of the 
      HLA-A*3014L antigen was observed. Only by incubating the cells at 30 degrees C, 
      which increases the stability of HLA class I heavy chains, was a weak but clearly 
      detectable HLA-A*3014L expression found. The mRNA expression level of the 
      HLA-A*3014L allele was not affected by the nucleotide substitution. The 
      intrachain disulfide bond formation in the alpha2 domain is essential for the 
      normal expression of the HLA molecules. Reduced protein expression is probably 
      caused by incorrect HLA class I heavy chain folding and HLA class I complex 
      assembly.
FAU - Hirv, Kaimo
AU  - Hirv K
AD  - Department of Transplantation Immunology, Institute for Clinical Transfusion 
      Medicine and Immunogenetics Ulm, Germany. k.hirv@blutspende.de
FAU - Pannicke, Ulrich
AU  - Pannicke U
FAU - Mytilineos, Joannis
AU  - Mytilineos J
FAU - Schwarz, Klaus
AU  - Schwarz K
LA  - eng
PT  - Journal Article
DEP - 20060524
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 48TCX9A1VT (Cystine)
SB  - IM
MH  - Cell Line, Transformed
MH  - Cystine/*antagonists & inhibitors/*genetics
MH  - Histocompatibility Antigens Class I/biosynthesis/*genetics
MH  - Humans
MH  - *Point Mutation
MH  - Protein Structure, Tertiary
EDAT- 2006/08/19 09:00
MHDA- 2006/12/23 09:00
CRDT- 2006/08/19 09:00
PHST- 2005/12/07 00:00 [received]
PHST- 2006/08/19 09:00 [pubmed]
PHST- 2006/12/23 09:00 [medline]
PHST- 2006/08/19 09:00 [entrez]
AID - S0198-8859(06)00109-1 [pii]
AID - 10.1016/j.humimm.2006.04.010 [doi]
PST - ppublish
SO  - Hum Immunol. 2006 Aug;67(8):589-96. doi: 10.1016/j.humimm.2006.04.010. Epub 2006 
      May 24.