{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:37:37Z","timestamp":1780526257346,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T00:00:00Z","timestamp":1772841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T00:00:00Z","timestamp":1772841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100010481","name":"Etablissement Fran\u00e7ais du Sang","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010481","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2026,5]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n While modern technology is increasingly available to identify efficiently the molecular alterations responsible for variant phenotype, a subset of samples still escapes those analyses. In addition to the promoter region, two intronic regions containing GATA1 binding sites within the\n RHD<\/jats:italic>\n gene locus were recently shown to modulate the transcriptional activity of the gene. We then thought to explore these regions in a subset of samples with unresolved genotypes.\n <\/jats:p>\n <\/jats:sec>\n \n Study Design and Methods<\/jats:title>\n \n Thirty\u2010three Thai donor samples (weak D,\n n<\/jats:italic>\n \u2009=\u200910; D\u2010negative, 23) were selected for molecular analysis by conventional Sanger sequencing. In parallel, a novel functional assay was designed for investigating the potential effect of variants within the\n RHD<\/jats:italic>\n gene promoter. Three variants previously reported, that is, c.1\u2013115A>C, c.1\u2013110A>C, and c.1\u201383G>T, were tested by this approach.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n No variant was identified in the 33 samples, suggesting that the molecular basis of the respective phenotypes remains to be resolved. Interestingly, beyond the ~200 base pair (bp) promoter region commonly described, another ~300\u2009bp region located upstream appears to contain elements that positively regulate the transcriptional activity of the\n RHD<\/jats:italic>\n gene. Also, the deleterious effect of the c.1\u2013110A>C variant was confirmed, conversely to the two other variants, which did not show any functional alteration.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n Regulation of\n RH<\/jats:italic>\n gene expression is likely to involve other levels of complexity that remain to be identified. Future investigations are necessary to characterize those critical genomic regions that potentially carry rare variants responsible for weakening or abolishment of D antigen expression.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/trf.70155","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T20:45:46Z","timestamp":1773002746000},"page":"957-963","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Functional investigation of the\n \n RHD<\/i>\n <\/scp>\n gene promoter: Molecular changes are rarely responsible for variant D phenotype in Thai donors"],"prefix":"10.1111","volume":"66","author":[{"given":"Caroline","family":"B\u00e9nech","sequence":"first","affiliation":[{"name":"Univ Brest, Inserm, EFS UMR1078, GGB Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1123-1037","authenticated-orcid":false,"given":"Pornlada","family":"Nuchnoi","sequence":"additional","affiliation":[{"name":"Department of Clinical Microscopy, Faculty of Medical Technology Mahidol University Salaya Thailand"},{"name":"Center for Research Innovation and Biomedical Informatics, Faculty of Medical Technology Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5104-9125","authenticated-orcid":false,"given":"Yann","family":"Fichou","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS UMR1078, GGB Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2010.12.013"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2011.03544.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16301"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tracli.2006.02.001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.12002"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.12009"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.13083"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.12322"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.15210"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16538"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16510"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/voxs.12165"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/voxs.12311"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.21037\/aob-21-37"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.14552"},{"key":"e_1_2_10_17_1","first-page":"151","article-title":"Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors","volume":"17","author":"El Housse H","year":"2019","journal-title":"Blood Transfus"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.15504"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.15394"},{"key":"e_1_2_10_20_1","first-page":"327","article-title":"Molecular basis of serological weak D phenotypes and RhD typing discrepancies identified in the Korean population","volume":"19","author":"Chung YN","year":"2021","journal-title":"Blood Transfus"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16518"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/tme.12726"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16242"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.17145"},{"key":"e_1_2_10_25_1","first-page":"209","article-title":"Serologically 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