Article
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.
Blood - 6 Feb 2020
Azouzi Slim, Mikdar Mahmoud, Hermand Patricia, Gautier Emilie-Fleur, Salnot Virginie, Willemetz Alexandra, Nicolas Gaël, Vrignaud Cédric, Raneri Alexandre, Mayeux Patrick, Bole-Feysot Christine, Nitschké Patrick, Cartron Jean-Pierre, Colin Yves, Hermine Olivier, Jedlitschky Gabriele, Cloutier Marc, Constanzo-Yanez Jessica, Ethier Carole, Robitaille Nancy, St-Louis Maryse, Le Van Kim Caroline, Peyrard Thierry
Abstract excerpt
The rare PEL-negative phenotype is one of the last blood groups with an unknown genetic basis. By combining whole-exome sequencing and comparative global proteomic investigations, we found a large deletion in the ABCC4/MRP4 gene encoding an ATP-binding cassette (ABC) transporter in PEL-negative individuals. The loss of PEL expression on ABCC4-CRISPR-Cas9 K562 cells and its overexpression in ABCC4-transfected...
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