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. Author manuscript; available in PMC: 2014 Sep 30.
Published in final edited form as: Nat Genet. 2013 Apr 7;45(5):542–545. doi: 10.1038/ng.2603

Figure 1. The gene SMIM1 encodes the Vel blood group.

Figure 1

a) Red blood cell membrane expression of the Vel antigen measured by flow-cytometry for respectively a Vel-negative, Vel-weak by adsorption/elution, Vel-weak, and a Vel-positive individual.

b) Homozygous inheritance of a 17 nucleotide frameshift deletion (hg19, chr1:Δ3691998-3692014:GTCAGCCTAGGGGCTGT/-) in SMIM1 underlies the Vel-negative phenotype. The major allele of the common SNP rs1175550, indicated by the blue circles, was associated with reduced expression of SMIM1 in whole blood (see Fig. 2a) and decreased mean red blood cell hemoglobin concentration (P=8×10−15) in a large meta-analysis of genome-wide association studies (GWAS) of red blood cell parameters3 (see main text).

c) Overexpression of human SMIM1 cDNA in HEK293T cells. Nearly all of the transfected cells showed expression of the Vel antigen as determined with human polyclonal antibodies against Vel and flow-cytometry, confirming SMIM1 as the gene encoding the Vel blood group.