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Characterization of a novel HLA-C allele, HLA-C*05:278N

Biology

Characterization of a novel HLA-C allele, HLA-C*05:278N

M. Devriese, S. D. Silva, et al.

Discover the groundbreaking identification of a novel HLA-C allele, HLA-C*05:278N, linked to renal transplantation. This study by Magali Devriese, Sephora Da Silva, Maryvonnick Carmagnat, and Jean-Luc Taupin reveals the genetic intricacies like a nucleotide mismatch leading to a null allele with no cell surface expression. Dive into the specifics and implications of this exciting research.

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~3 min • Beginner • English
Abstract
Compared with HLA-C*05:01:01:02, the novel allele HLA-C*05:278N carries a single nucleotide substitution (G>A) at position 1767 in exon 4, converting codon 244 from TGG (tryptophan) to TGA (stop). The resulting premature stop codon is predicted to render the allele null with no cell-surface expression. Serological typing by micro-lymphocyte cytotoxicity could not be performed due to lack of HLA-C reagents.
Publisher
Not specified in the provided text
Published On
Jan 01, 2023
Authors
Magali Devriese, Sephora Da Silva, Maryvonnick Carmagnat, Jean-Luc Taupin
Tags
HLA-C allele
renal transplantation
nucleotide mismatch
premature stop codon
null allele
cell surface expression
GenBank
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