Disruption of SMIM1 causes the Vel- blood type.

Autor: Ballif BA; Department of Biology, University of Vermont, Burlington, VT, USA., Helias V, Peyrard T, Menanteau C, Saison C, Lucien N, Bourgouin S, Le Gall M, Cartron JP, Arnaud L
Jazyk: angličtina
Zdroj: EMBO molecular medicine [EMBO Mol Med] 2013 May; Vol. 5 (5), pp. 751-61. Date of Electronic Publication: 2013 Apr 15.
DOI: 10.1002/emmm.201302466
Abstrakt: Here, we report the biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, especially as anti-Vel regularly causes severe haemolytic transfusion reactions. The protein carrying the Vel blood group antigen was biochemically purified from red blood cell membranes. Mass spectrometry-based de novo peptide sequencing identified this protein to be small integral membrane protein 1 (SMIM1), a previously uncharacterized single-pass membrane protein. Expression of SMIM1 cDNA in Vel- cultured cells generated anti-Vel cell surface reactivity, confirming that SMIM1 encoded the Vel blood group antigen. A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. The genetic homogeneity of the Vel- blood type, likely having a common origin, facilitated the development of two highly specific DNA-based tests for rapid Vel genotyping, which can be easily integrated into blood group genotyping platforms. These results answer a 60-year-old riddle and provide tools of immediate assistance to all clinicians involved in the care of Vel- patients.
(Copyright © 2013 The Authors. Published by John Wiley and Sons, Ltd on behalf of EMBO.)
Databáze: MEDLINE
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