A new genetic background for the Jr(a–) blood group phenotype caused by the ABCG2*439T allele encoding a p.Arg147Trp change

Alterations in erythrocyte membrane transporter expression levels in type 2 diabetic patients

“…In addition, several statins, used in the therapy of hypercholesterinemia, hypertension, and potentially in T2DM, are also transported substrates of ABCG2, and reduced ABCG2 levels may significantly alter statin absorption and cellular statin levels (see 25 ). ABCG2 is present in significant amounts in the membranes of human red blood cells, contributing to the Jr blood group 26 .…”

Biochemical characterization of Jr(a−) blood type‐related ABCG2 variants: Arg147Trp and Ser572Arg disrupt the plasma membrane localization of ABCG2

“…To the Editor, We have read with great interest several reports in TRANSFUSION and other journals describing genetic associations between the Jr a -negative [Jr(aÀ)] blood type and mutations in the human ATP-binding cassette transporter G2 (ABCG2) gene. [1][2][3] While ABCG2 is known as a membrane transporter that regulates the pharmacokinetics of its substrate drugs, 4 this membrane protein serves as an antigen in the JR blood group system (ISBT number 032). Indeed, homozygous for null alleles, characterized by nonsense or frameshift mutations in the ABCG2 reportedly cause the Jr(aÀ) phenotype.…”

“…Previously, a non-synonymous single nucleotide variation in ABCG2, c.439C>T (p.R147W), 1 was identified as a determinant of Jr(aÀ) blood type based on serologically tests with several types of anti-Jr a . This indicates that there was little ABCG2 protein recognized by the anti-Jr a on red blood cells of subjects with ABCG2 439T/T (homozygous for p.R147W).…”