Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Loann RaudMarlène Le TertreLéonie VigneronChandran KaGaëlle RichardIsabelle CallebautJian-Min ChenClaude FérecGérald Le GacYann FichouPublished in: Transfusion (2021)
Our functional data set suggests that missense SNVs damage quantitatively D antigen expression by, at least, two different mechanisms (splicing alteration and protein destabilization) that may act independently. These data thereby contribute to extend the current knowledge of the molecular mechanisms governing weakened D expression.