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Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype

Jill Storry, Martin Olsson and colleagues show that homozygosity for a null allele of SMIM1 defines the Vel– blood group phenotype. SMIM1 encodes an evolutionarily conserved transmembrane protein expressed on red blood cells.

Jill R Storry
Magnus Jöud
Martin L Olsson
Research07 Apr 2013
Nature Genetics

Volume: 45, P: 537-541
Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

The molecular basis of the clinically important MAM blood group antigen present in most humans is unknown. We identify EMP3 as its encoding gene, establishing MAM as a new blood group system, and demonstrate the role of EMP3 in erythropoiesis through its interaction with the signalling molecule CD44.

Nicole Thornton
Vanja Karamatic Crew
David J. Anstee
ResearchOpen Access16 Jul 2020
Nature Communications

Volume: 11, P: 1-11
Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome

This study provides a systematic approach to explore how blood group expression is regulated by transcription factors. As proof-of-principle, the genetic basis underlying the very low levels of CR1 on red cells of the Helgeson phenotype is explained.

Ping Chun Wu
Yan Quan Lee
Martin L. Olsson
ResearchOpen Access17 Aug 2023
Nature Communications

Volume: 14, P: 1-12
SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

Mikael K. Christophersen
Magnus Jöud
Björn Nilsson
ResearchOpen Access13 Jan 2017
Scientific Reports

Volume: 7, P: 1-11
RIFINs are adhesins implicated in severe Plasmodium falciparum malaria

Goel et al. report that RIFINs mediate rosetting of Plasmodium falciparum infected erythrocytes in vitro, a phenotype that is associated with severe disease in humans

Suchi Goel
Mia Palmkvist
Mats Wahlgren
Research09 Mar 2015
Nature Medicine

Volume: 21, P: 314-317

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Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome

SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

RIFINs are adhesins implicated in severe Plasmodium falciparum malaria

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Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome

SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

RIFINs are adhesins implicated in severe Plasmodium falciparum malaria

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