Vanja Karamatic Crew, Louise A Tilley, Timothy J Satchwell, Samah A AlSubhi, Benjamin Jones, Frances A Spring, Piers J Walser, Catarina Martins Freire, Nicoletta Murciano, Maria Giustina Rotordam, Svenja J Woestmann, Marwa Hamed, Reem Alradwan, Mouza AlKhrousey, Ian Skidmore, Sarah Lewis, Shimon Hussain, Jane Jackson, Tom Latham, Mark D Kilby, William Arthur Lester, Nadine Becker, Markus Rapedius, Ashley Mark Toye, Nicole M Thornton
Despite the identification of the high incidence red cell antigen Era nearly 40 years ago, the molecular background of this antigen, together with the other two members of the Er blood group collection, has yet to be elucidated. Whole exome and Sanger sequencing of individuals with serologically defined Er alloantibodies identified several missense mutations within the PIEZO1 gene, encoding amino acid substitutions within the extracellular domain of the Piezo1 mechanosensor ion channel. Confirmation of Piezo1 as the carrier molecule for the Er blood group antigens was demonstrated using immunoprecipitation, CRISPR/Cas9-mediated gene knockout and expression studies in an erythroblast cell line...
September 19, 2022: Blood