Development of a recombinant anti‐Vel immunoglobulin M to identify Vel‐negative donors

@article{vanderRijst2019DevelopmentOA,
  title={Development of a recombinant anti‐Vel immunoglobulin M to identify Vel‐negative donors},
  author={Marea V E van der Rijst and Suzanne N. Lissenberg-Thunnissen and Peter C. Ligthart and Remco Visser and John M Jongerius and Lesley Voorn and Barbera Veldhuisen and Gestur Vidarsson and Emile van den Akker and C. Ellen van der Schoot},
  journal={Transfusion},
  year={2019},
  volume={59}
}
BACKGROUND Alloimmunization against the high-frequency Vel blood group antigen may result in transfusion reactions or hemolytic disease of fetus and newborn. [] Key Method High-throughput donor screening applicability was tested using an automated blood group analyzer. RESULTS A Vel-specific IgM class antibody was produced.
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, 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.
Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope
TLDR
It is demonstrated that dimerization of SMIM1 promotes cell surface display of the Vel epitope and is mediated both by an extracellular Cys77‐dependent, homomeric disulfide linkage and via a GxxxG helix–helix interaction motif in the transmembrane domain.
SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation
TLDR
How SMIM1 expression is regulated during erythropoiesis is reported, to understand its variable expression on erythrocytes.

References

SHOWING 1-10 OF 19 REFERENCES
Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype
TLDR
SNP profiling and transcriptional network modeling are combined to link the Vel-negative phenotype to SMIM1, located in a 97-kb haplotype block on chromosome 1p36, and this gene encodes a previously undiscovered, evolutionarily conserved transmembrane protein expressed on RBCs, establishingSMIM1 as anew erythroid gene and Vel as a new blood group system.
Disruption of SMIM1 causes the Vel− blood type
TLDR
The biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, is reported and two highly specific DNA‐based tests for rapid Vel genotyping, which can be easily integrated into blood group genotypesing platforms are developed.
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.
The Vel Blood Group in Northern Sweden
TLDR
A detailed study of the Vel blood group has been made in the Northern region of Sweden, showing Vel to be independent of P1, though some association with P groups was detected since P2 was more frequent amongst Vel(‐) than expected.
Intranasal Administration of Antibody-Bound Respiratory Syncytial Virus Particles Efficiently Primes Virus-Specific Immune Responses in Mice
ABSTRACT Infants are protected from a severe respiratory syncytial virus (RSV) infection in the first months of life by maternal antibodies or by prophylactically administered neutralizing
Impact of genetic variation in the SMIM1 gene on Vel expression levels
TLDR
The genetic basis for weak Vel expression levels is investigated and a high‐throughput genotyping assay is developed to detect Vel– donors and improveSerologic determination of the Vel– phenotype is challenging due to variableVel expression levels.
The Majority of Human Memory B Cells Recognizing RhD and Tetanus Resides in IgM+ B Cells
B cell memory to T cell–dependent (TD) Ags are considered to largely reside in class-switched CD27+ cells. However, we previously observed that anti-RhD (D) Igs cloned from two donors, hyperimmunized
Functional Analysis of the Anti-adalimumab Response Using Patient-derived Monoclonal Antibodies♦
TLDR
It is concluded that although all anti-adalimumab antibodies compete for binding to TNF, the response is clonally diverse and involves multiple epitopes on adalimumab.
Stepwise intraclonal maturation of antibody affinity through somatic hypermutation.
  • C. KocksK. Rajewsky
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1988
TLDR
Using recombinant DNA techniques, a genealogical tree is reconstructed that connects three clonally related B cells producing somatically mutated antibodies to a progenitor cell expressing a germ line-encoded antibody.
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