PMID- 28205408
OWN - NLM
STAT- MEDLINE
DCOM- 20180608
LR  - 20180821
IS  - 2059-2310 (Electronic)
IS  - 2059-2302 (Linking)
VI  - 89
IP  - 4
DP  - 2017 Apr
TI  - RNA processing and protein expression of HLA-B*07:44N.
PG  - 230-234
LID - 10.1111/tan.12983 [doi]
AB  - BACKGROUND: The assignment of human leukocyte antigen (HLA) null alleles is 
      clinically relevant in the setting of stem cell transplantation. Cell surface 
      expression profiling and mRNA processing analysis of the HLA-B allele previously 
      designated as B*07:44, have been performed. MATERIALS AND METHODS: Cell surface 
      expression of HLA-B*07:44 was determined using flow cytometry. Genomic 
      full-length and HLA-B*07-specific cDNA sequencing were carried out by Sanger 
      procedure. RESULTS: Flow cytometric analysis confirmed previous serologic results 
      and demonstrated a lack of cell membrane expression of the HLA-B protein. The 
      mRNA processing, studied using direct HLA-B*07-specific cDNA sequencing, revealed 
      the presence of a unique, aberrantly spliced mRNA, with a deletion of the last 43 
      bp on the 5'-end of exon 4. The substitution from T to G at genomic position 1799 
      compared to B*07:02:01 introduced a new and stronger splice donor site at exon 4. 
      This alternative splicing produced an mRNA containing a premature stop codon at 
      position 280, explaining the absence of mature HLA-B7 protein on the cell 
      surface. CONCLUSION: These findings led us to consider this HLA-B variant as a 
      HLA null allele. The World Health Organization (WHO) Nomenclature Committee has 
      since renamed this variant B*07:44N .
CI  - (c) 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Balas, A
AU  - Balas A
AUID- ORCID: 0000-0001-7137-3304
AD  - Departamento de Histocompatibilidad, Centro de Transfusion de la Comunidad de 
      Madrid, Madrid, Spain.
FAU - Garcia-Sanchez, F
AU  - Garcia-Sanchez F
AD  - Departamento de Histocompatibilidad, Centro de Transfusion de la Comunidad de 
      Madrid, Madrid, Spain.
FAU - Vicario, J L
AU  - Vicario JL
AD  - Departamento de Histocompatibilidad, Centro de Transfusion de la Comunidad de 
      Madrid, Madrid, Spain.
LA  - eng
PT  - Journal Article
DEP - 20170215
PL  - England
TA  - HLA
JT  - HLA
JID - 101675570
RN  - 0 (Codon, Terminator)
RN  - 0 (DNA, Complementary)
RN  - 0 (HLA-B*07 antigen)
RN  - 0 (HLA-B7 Antigen)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Alleles
MH  - *Alternative Splicing
MH  - *Base Sequence
MH  - Bone Marrow Transplantation
MH  - Cloning, Molecular
MH  - Codon, Terminator
MH  - DNA, Complementary/genetics/immunology
MH  - Exons
MH  - Flow Cytometry
MH  - HLA-B7 Antigen/*genetics/immunology
MH  - Humans
MH  - RNA, Messenger/*genetics/immunology
MH  - Sequence Alignment
MH  - Sequence Analysis, DNA
MH  - *Sequence Deletion
MH  - Terminology as Topic
MH  - Tissue Donors
OTO - NOTNLM
OT  - B*07:44N
OT  - HLA
OT  - null allele
OT  - splicing
EDAT- 2017/02/17 06:00
MHDA- 2018/06/09 06:00
CRDT- 2017/02/17 06:00
PHST- 2016/10/07 00:00 [received]
PHST- 2017/01/17 00:00 [revised]
PHST- 2017/01/24 00:00 [accepted]
PHST- 2017/02/17 06:00 [pubmed]
PHST- 2018/06/09 06:00 [medline]
PHST- 2017/02/17 06:00 [entrez]
AID - 10.1111/tan.12983 [doi]
PST - ppublish
SO  - HLA. 2017 Apr;89(4):230-234. doi: 10.1111/tan.12983. Epub 2017 Feb 15.