Study of the D-- phenotype reveals erythrocyte membrane alterations in the absence of RHCE.

British Journal of Haematology
Joanna F FlattLesley J Bruce

Abstract

Red cells with the D-- phenotype do not express the RHCE protein because of mutations in both alleles of the RHCE gene. At present, little is known of the effect this has on the normal function of erythrocytes. In this study a group of five families belonging to a nomadic tribe in Malaysia were identified as carriers of the D-- haplotype. Analysis of homozygous individuals' genomic DNA showed two separate novel mutations. In four of the families, RHCE exons 1, 9 and 10 were present, while the 5th family possessed RHCE exons 1-3 and 10. Analysis of cDNA revealed hybrid transcripts, suggesting a gene conversion event with RHD, consistent with previously reported D-- mutations. Immunoblotting analysis of D-- erythrocyte membrane proteins found that Rh-associated glycoprotein (RHAG) migrates with altered electrophoretic mobility on sodium dodecyl sulphate polyacrylamide gel electrophoresis, consistent with increased glycosylation. Total amounts of Rh polypeptide in D-- membranes were comparable with controls, indicating that the exalted D antigen displayed by D-- red cells may be associated with altered surface epitope presentation. The adhesion molecules CD44 and CD47 are significantly reduced in D--. Together these results sugges...Continue Reading

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Citations

Feb 25, 2015·Critical Reviews in Biochemistry and Molecular Biology·David R Soto-PantojaDavid D Roberts
Jan 25, 2018·Blood Advances·Carlos H VillaVladimir R Muzykantov
Apr 17, 2019·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Maryam Samareh Salavati PourRoohollah Mirzaee Khalilabadi

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