Show simple item record Koszarska M Kucsma, Nóra Kiss, Katalin Várady, György Gera, Melinda Antalffy G Andrikovics, Hajnalka Tordai, Attila Studzian M Strapagiel D Pulaski L Tani Y Sarkadi, Balázs Szakács, Gergely 2018-09-13T06:19:57Z 2018-09-13T06:19:57Z 2014
dc.identifier 84910003875
dc.identifier.citation pagination=e111590, pages: 11; journalVolume=9; journalIssueNumber=10; journalTitle=PLOS ONE;
dc.identifier.uri doi:10.1371/journal.pone.0111590
dc.description.abstract Lan is a high-incidence blood group antigen expressed in more than 99.9% of the population. Identification of the human ABC transporter ABCB6 as the molecular basis of Lan has opened the way for studies assessing the relation of ABCB6 function and expression to health and disease. To date, 34 ABCB6 sequence variants have been described in association with reduced ABCB6 expression based on the genotyping of stored blood showing weak or no reactivity with anti-Lan antibodies. In the present study we examined the red blood cell (RBC) surface expression of ABCB6 by quantitative flow cytometry in a cohort of 47 healthy individuals. Sequencing of the entire coding region of the ABCB6 gene in low RBC ABCB6 expressors identified a new allele (IVS9+1G>A, affecting a putative splice site at the boundary of exon 9) and two nonsynonymous SNPs listed in the SNP database (R192Q (rs150221689) and G588 S (rs145526996)). The R192Q mutation showed co-segregation with reduced RBC ABCB6 expression in a family, and we found the G588 S mutation in a compound heterozygous individual with undetectable ABCB6 expression, suggesting that both mutations result in weak or no expression of ABCB6 on RBCs. Analysis of the intracellular expression pattern in HeLa cells by confocal microscopy indicated that these mutations do not compromise overall expression or the endolysosomal localization of ABCB6. Genotyping of two large cohorts, containing 235 and 1039 unrelated volunteers, confirmed the high allele frequency of Lan-mutations. Our results suggest that genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.
dc.relation.ispartof urn:issn:1932-6203
dc.title Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals
dc.type Journal Article 2018-07-20T07:35:42Z
dc.language.rfc3066 en
dc.identifier.mtmt 2764701
dc.identifier.wos 000343943700125
dc.identifier.pubmed 25360778
dc.contributor.department SE/AOK/I/BSI/MTA-SE Molekuláris Biofizikai Kutatócsoport
dc.contributor.institution Semmelweis Egyetem

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