{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:15:38Z","timestamp":1783653338928,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>FUT1<\/jats:italic>\n                      encodes galactoside alpha\u2010(1,2)\u2010fucosyltransferase 1 (\u03b12FucT1), which adds the H antigen glycan on red blood cells. In contrast,\n                      <jats:italic>FUT2<\/jats:italic>\n                      encodes galactoside alpha\u2010(1,2)\u2010fucosyltransferase 2 (\u03b12FucT2), which is primarily responsible for adding H antigen in secretions. When\n                      <jats:italic>FUT1<\/jats:italic>\n                      loss\u2010of\u2010function variants occur in the presence of functional\n                      <jats:italic>FUT2<\/jats:italic>\n                      , RBCs can exhibit on their surface weak H antigen captured from secretions. This is known as the para\u2010Bombay phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design and Methods<\/jats:title>\n                    <jats:p>\n                      Whole genome sequencing (WGS) was conducted on a sample from a Hispanic individual exhibiting the para\u2010Bombay phenotype. The analysis focused on\n                      <jats:italic>FUT1<\/jats:italic>\n                      ,\n                      <jats:italic>FUT2<\/jats:italic>\n                      , and\n                      <jats:italic>ABO<\/jats:italic>\n                      . To assess potential loss\u2010of\u2010function missense variants in\n                      <jats:italic>FUT1<\/jats:italic>\n                      , a three\u2010dimensional structural model of human \u03b12FucT1 complexed with its donor substrate GDP\u2010L\u2010Fucose and its acceptor glycan Gal\u03b21\u20104GlcNAc was generated using AlphaFold2 and refined through molecular docking.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole genome sequencing revealed that the para\u2010Bombay individual was homozygous for a rare\n                      <jats:italic>FUT1<\/jats:italic>\n                      missense variant (c.789C&gt;A, p.Asn263Lys). Structural modeling demonstrated that this substitution lies near the GDP\u2010L\u2010Fucose binding site in the donor glycan pocket, leading to a predicted alteration in electrostatic charge distribution. Moreover, analysis of previously published loss\u2010of\u2010function missense\n                      <jats:italic>FUT1<\/jats:italic>\n                      variants, specifically p.Met228Ile, p.Trp232Arg, p.Ser262Lys, and p.Asn263His, revealed similar charge shifts near the donor or acceptor glycan binding sites within the enzyme's catalytic center, suggesting a common loss\u2010of\u2010function mechanism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study identified a novel\n                      <jats:italic>FUT1<\/jats:italic>\n                      variant associated with the para\u2010Bombay phenotype and elucidated its structural impact on \u03b12FucT1 function using an AlphaFold2\u2010based structural model.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/trf.70258","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T05:56:14Z","timestamp":1778738174000},"page":"1271-1278","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification and structural analysis of a novel\n                    <i>FUT1<\/i>\n                    c.\n                    <scp>789C<\/scp>\n                    &gt;A variant and previously reported para\u2010Bombay alleles using an\n                    <scp>\u03b12FucT1<\/scp>\n                    structural model"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0243-266X","authenticated-orcid":false,"given":"Sunitha","family":"Vege","sequence":"first","affiliation":[{"name":"Immunohematology and Genomics Laboratory New York Blood Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Crews","sequence":"additional","affiliation":[{"name":"Reference and Transfusion Laboratory Services Carter BloodCare  Bedford Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June","family":"Fuertes","sequence":"additional","affiliation":[{"name":"Immunohematology and Genomics Laboratory New York Blood Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Boyd","sequence":"additional","affiliation":[{"name":"Reference and Transfusion Laboratory Services Carter BloodCare  Bedford Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandy","family":"Wortman","sequence":"additional","affiliation":[{"name":"Reference and Transfusion Laboratory Services Carter BloodCare  Bedford Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin B. L.","family":"Halls","sequence":"additional","affiliation":[{"name":"Department of Pathology Phoenix Children's Hospital  Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen H.","family":"Mah","sequence":"additional","affiliation":[{"name":"Department of Pathology Brigham and Women's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa Y.","family":"Yeung","sequence":"additional","affiliation":[{"name":"Department of Medicine, Renal Division Brigham and Women's Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean R.","family":"Stowell","sequence":"additional","affiliation":[{"name":"Department of Pathology Phoenix Children's Hospital  Phoenix Arizona USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Lomas\u2010Francis","sequence":"additional","affiliation":[{"name":"Immunohematology and Genomics Laboratory New York Blood Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1929-4593","authenticated-orcid":false,"given":"Connie M.","family":"Westhoff","sequence":"additional","affiliation":[{"name":"Immunohematology and Genomics Laboratory New York Blood Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3817-9416","authenticated-orcid":false,"given":"Gorka","family":"Ochoa\u2010Garay","sequence":"additional","affiliation":[{"name":"Immunohematology and Genomics Laboratory New York Blood Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1097-5229","authenticated-orcid":false,"given":"William J.","family":"Lane","sequence":"additional","affiliation":[{"name":"Department of Pathology Brigham and Women's Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,13]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"International Society of Blood Transfusion.Red cell immunogenetics and blood group terminology [Internet]. 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