{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:59:42Z","timestamp":1790621982631,"version":"4.1.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T00:00:00Z","timestamp":1588550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005416","name":"Research Council of Norway","doi-asserted-by":"publisher","award":["179573\/V40"],"award-info":[{"award-number":["179573\/V40"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006095","name":"Southern and Eastern Norway Regional Health Authority","doi-asserted-by":"publisher","award":["2016113"],"award-info":[{"award-number":["2016113"]}],"id":[{"id":"10.13039\/501100006095","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stiftelsen KG Jebsen","award":["SKGMED-017"],"award-info":[{"award-number":["SKGMED-017"]}]},{"DOI":"10.13039\/100012579","name":"ISF","doi-asserted-by":"publisher","award":["832\/16"],"award-info":[{"award-number":["832\/16"]}],"id":[{"id":"10.13039\/100012579","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020 - Research and Innovation Framework Programme","doi-asserted-by":"publisher","award":["825821"],"award-info":[{"award-number":["825821"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,6,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Germline variations in immunoglobulin genes influence the repertoire of B cell receptors and antibodies, and such polymorphisms may impact disease susceptibility. However, the knowledge of the genomic variation of the immunoglobulin loci is scarce. Here, we report 25 potential novel germline IGHV alleles as inferred from rearranged na\u00efve B cell cDNA repertoires of 98 individuals. Thirteen novel alleles were selected for validation, out of which ten were successfully confirmed by targeted amplification and Sanger sequencing of non-B cell DNA. Moreover, we detected a high degree of variability upstream of the V-REGION in the 5\u2032UTR, L-PART1\u00a0and L-PART2 sequences, and found that identical V-REGION alleles can differ in upstream sequences. Thus, we have identified a large genetic variation not only in the V-REGION but also in the upstream sequences of IGHV genes. Our findings provide a new perspective for annotating immunoglobulin repertoire sequencing data.<\/jats:p>","DOI":"10.1093\/nar\/gkaa310","type":"journal-article","created":{"date-parts":[[2020,4,20]],"date-time":"2020-04-20T15:09:57Z","timestamp":1587395397000},"page":"5499-5510","source":"Crossref","is-referenced-by-count":39,"title":["Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2928-445X","authenticated-orcid":false,"given":"Ivana","family":"Mikocziova","sequence":"first","affiliation":[{"name":"K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moriah","family":"Gidoni","sequence":"first","affiliation":[{"name":"Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8343-2842","authenticated-orcid":false,"given":"Ida","family":"Lindeman","sequence":"first","affiliation":[{"name":"K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayelet","family":"Peres","sequence":"first","affiliation":[{"name":"Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5322-0021","authenticated-orcid":false,"given":"Omri","family":"Snir","sequence":"first","affiliation":[{"name":"K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9311-9884","authenticated-orcid":false,"given":"Gur","family":"Yaari","sequence":"first","affiliation":[{"name":"Faculty of Engineering, Bar Ilan University, Ramat Gan 5290002, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8860-704X","authenticated-orcid":false,"given":"Ludvig M","family":"Sollid","sequence":"first","affiliation":[{"name":"K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,5,4]]},"reference":[{"key":"2020053012203794800_B1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3389\/fimmu.2014.00092","article-title":"Early BCR events and antigen capture, processing, and loading on MHC Class II on B Cells","volume":"5","author":"Avalos","year":"2014","journal-title":"Front. 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Med."},{"key":"2020053012203794800_B5","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/gene.2012.12","article-title":"The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease","volume":"13","author":"Watson","year":"2012","journal-title":"Genes Immunity"},{"key":"2020053012203794800_B6","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.ajhg.2013.03.004","article-title":"Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation","volume":"92","author":"Watson","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"2020053012203794800_B7","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1084\/jem.188.11.2151","article-title":"The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus","volume":"188","author":"Matsuda","year":"1998","journal-title":"J. Exp. Med."},{"key":"2020053012203794800_B8","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/gene.2014.56","article-title":"Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity","volume":"16","author":"Watson","year":"2015","journal-title":"Genes Immunity"},{"key":"2020053012203794800_B9","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.4049\/jimmunol.1102097","article-title":"The inference of phased haplotypes for the immunoglobulin H chain V region gene loci by analysis of VDJ gene rearrangements","volume":"188","author":"Kidd","year":"2012","journal-title":"J. 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