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

  title={Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype},
  author={Jill R. Storry and Magnus J{\"o}ud and Mikael Kronborg Christophersen and Britt Thuresson and Bo Åkerström and Birgitta Nilsson Sojka and Bj{\"o}rn Nilsson and Martin L. Olsson},
  journal={Nature Genetics},
The Vel antigen is present on red blood cells (RBCs) from all humans except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients. We combined SNP profiling and transcriptional network modeling to link the Vel-negative phenotype to SMIM1, located in a 97-kb haplotype block on chromosome 1p36. This gene encodes a previously undiscovered, evolutionarily conserved transmembrane… 

Identification and characterisation of SMIM1 variants determining the Vel blood group

The Vel blood group antigen is present on red blood cells from all humans except rare Vel-negative individuals, who can form antibodies to Vel in response to transfusion or pregnancy. It was first

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

The regulatory region located in SMIM1 intron 2 in Swedish blood donors is fine-mapped, and a strong correlation between expression and rs1175550 as well as with a previously unreported tri-nucleotide insertion is observed.

SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.

It is demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes inSMIM1 intron 2.

Molecular Screening for Vel- Blood Donors in Southwestern Germany

Molecular screening of blood donors for the Vel- blood type is feasible and avoids the limitations of serological typing which might show false-negative results with heterozygous individuals.

Prevalence of SMIM1 c.64_80del17 homozygotes in southeastern Brazil: the Vel‐negative phenotype

This study was the first to address the frequency of Velnegative donors in Brazil by standardized a molecular strategy to identify Vel-negative donors using pooled DNA recovered from the viral nucleic acid test routine, which proved effective and accurate.

SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system

The data consistently indicate that SMIM1 has its short C-terminus located extracellularly and that it most likely belongs to the tail-anchored class of membrane proteins with the bulk of the polypeptide located in the cytoplasm.

Molecular screening of Vel‐blood donors using DNA pools in Nanjing, China

A large-scale survey was conducted to screen for Vel− blood donors in Nanjing, China using a molecular strategy based on the specific detection of the SMIM1 c.64_80del allele by polymerase chain reaction with sequence-specific primers (PCR-SSP).

The Polymorphism of SMIM1 Gene in Chinese Dividuals

The allele at intron 3 position 193 was the most frequent mutant allele found in the Chinese population and Vel antigen deficiency may not cause problems in Chinese patients with hematological diseases and RBC autoantibodies.

The Vel blood group system: a review

While screening for Vel– blood donors has become easier, the function of SMIM1 is still unknown, and despite its well-conserved sequence across the animal kingdom, the enigma continues.



ABCG2 null alleles define the Jr(a−) blood group phenotype

The high-incidence erythrocyte blood group antigen Jra has been known in transfusion medicine for over 40 years. To identify the gene encoding Jra, we performed SNP analysis of genomic DNA from six

Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior

It is reported here thatABCG2 comprises the molecular basis of a new blood group system (Junior, Jr) and that individuals of the Jr(a−) blood type have inherited two null alleles of ABCG2.

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

ABCB6 is identified as the genetic basis of the Lan blood group antigen expressed on red blood cells but also at the plasma membrane of hepatocellular carcinoma (HCC) cells, and it is established that ABCB6 encodes a new blood group system.

An integrated map of genetic variation from 1,092 human genomes

It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.

Seven Vea (Vel) Negative Members in Three Generations of a Family

A family with seven Vel negative (VeVe) members in three generations was found because the propositus had a hemolytic transfusion reaction, and study of the blood groups of the family shows that Vea is not in the MNS system.

A Novel Erythrocyte Binding Antigen-175 Paralogue fromPlasmodium falciparum Defines a New Trypsin-resistant Receptor on Human Erythrocytes*

A paralogue of EBA-175 is described and it is shown that this protein (EBA-181/JESEBL) binds in a sialic acid-dependent manner to erythrocytes and that binding of E BA-181 is not dependent on this sialoglycoprotein.

BASIGIN is a receptor essential for erythrocyte invasion by Plasmodium falciparum

The discovery of a cross-strain dependency on a single extracellular receptor–ligand pair for erythrocyte invasion by P. falciparum provides a focus for new anti-malarial therapies.

Clinical utility of microarray-based gene expression profiling in the diagnosis and subclassification of leukemia: report from the International Microarray Innovations in Leukemia Study Group.

  • T. HaferlachA. Kohlmann R. Foà
  • Medicine, Biology
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2010
Gene expression profiling is a robust technology for the diagnosis of hematologic malignancies with high accuracy and may complement current diagnostic algorithms and could offer a reliable platform for patients who lack access to today's state-of-the-art diagnostic work-up.

Blood group associations with parasites, bacteria, and viruses.

Because of their easy accessibility, RBCs will continue to be used as a major tool in the investigation of the causative agents for disease, whether they be viral, bacterial, or parasitic in nature.

An Integrated Encyclopedia of DNA Elements in the Human Genome

The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.