PMID- 20858522
OWN - NLM
STAT- MEDLINE
DCOM- 20110316
LR  - 20221207
IS  - 1879-1166 (Electronic)
IS  - 0198-8859 (Linking)
VI  - 71
IP  - 12
DP  - 2010 Dec
TI  - Inactivation of a functional HLA-A gene: a 4-kb deletion turns HLA-A*24 into a 
      pseudogene.
PG  - 1197-202
LID - 10.1016/j.humimm.2010.09.010 [doi]
AB  - An unusual haplotype without a detectable human leukocyte antigen (HLA)-A allele 
      by serologic or molecular typing methods segregates in a Caucasian family. 
      Microsatellite analysis and fluorescence in situ hybridization implicated that 
      the deletion encompasses a narrow region. To identify the deleted region, five 
      different fragments in close proximity to HLA-A, known to be highly polymorphic, 
      were amplified and sequenced. The presence of heterozygous sequences in all five 
      fragments of the individuals carrying the haplotype with the HLA-A deletion, 
      indicates that the fragments are not involved in the deletion. Therefore, the 5' 
      primer from the fragment closest to the centromeric side of HLA-A was combined 
      with the 3' primer closest to the telomeric side encompassing an 11-kb region. 
      Sequencing revealed that a deletion of 4089 bp was present, located upstream of 
      HLA-A, including exons and introns 1-3 of the HLA gene. Sequence information of 
      the 3' part of HLA-A, downstream the deletion, identified that the deleted allele 
      originates from an A*24 allele. Although different repeat sequences are present 
      in the region both inside and outside the deletion, no evidence points to a 
      retrotransposon mechanism. The detected partial deletion of HLA-A turns this 
      functional gene into a pseudogene.
CI  - Copyright (c) 2010 American Society for Histocompatibility and Immunogenetics. 
      Published by Elsevier Inc. All rights reserved.
FAU - Voorter, Christina E M
AU  - Voorter CE
AD  - Transplantation Immunology, Tissue Typing Laboratory, Maastricht University, 
      Medical Centre, Maastricht, the Netherlands. c.voorter@mumc.nl
FAU - Lauterbach, Nina
AU  - Lauterbach N
FAU - Tilanus, Marcel G J
AU  - Tilanus MG
LA  - eng
PT  - Journal Article
DEP - 20100919
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-A24 Antigen)
RN  - 0 (Histocompatibility Antigens Class I)
SB  - IM
MH  - Adult
MH  - Child
MH  - Exons
MH  - Family
MH  - Female
MH  - HLA-A Antigens/*genetics
MH  - HLA-A24 Antigen
MH  - Histocompatibility Antigens Class I
MH  - Histocompatibility Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Pedigree
MH  - Pseudogenes/*genetics
MH  - Sequence Analysis, DNA
MH  - *Sequence Deletion
MH  - White People/genetics
EDAT- 2010/09/23 06:00
MHDA- 2011/03/17 06:00
CRDT- 2010/09/23 06:00
PHST- 2010/06/08 00:00 [received]
PHST- 2010/09/09 00:00 [revised]
PHST- 2010/09/16 00:00 [accepted]
PHST- 2010/09/23 06:00 [entrez]
PHST- 2010/09/23 06:00 [pubmed]
PHST- 2011/03/17 06:00 [medline]
AID - S0198-8859(10)00503-3 [pii]
AID - 10.1016/j.humimm.2010.09.010 [doi]
PST - ppublish
SO  - Hum Immunol. 2010 Dec;71(12):1197-202. doi: 10.1016/j.humimm.2010.09.010. Epub 
      2010 Sep 19.