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

@article{Storry2013HomozygosityFA,
  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},
  year={2013},
  volume={45},
  pages={537-541}
}
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 of a novel single‐nucleotide mutation in SMIM1 gene that results in low Vel antigen expression
TLDR
A novel SMIM1 mutation, p.161T>C, resulting in very weak Vel expression on RBCs, is identified, which suggests a dominant negative effect on Vel expression after blood transfusion with Vel-positive blood or through pregnancy after carrying a Vel- positive child.
SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression
TLDR
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.
TLDR
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.
Prevalence of SMIM1 c.64_80del17 homozygotes in southeastern Brazil: the Vel‐negative phenotype
TLDR
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
TLDR
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
TLDR
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
TLDR
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.
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens
TLDR
Overall, a subset of reference alleles are defined by third-generation (long-read) sequencing, which provides a “longitudinal” overview of the loci of interest (several thousand base pairs) and is of critical interest for resolving novel, rare, and null alleles.
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