{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:53:14Z","timestamp":1761742394192},"reference-count":0,"publisher":"Rockefeller University Press","issue":"1","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1993,1,1]]},"abstract":"<jats:p>Germline variation in genes that encode the human T cell receptors (TCRs) may have an important influence in shaping the immune T cell repertoire. In this report we describe a frequent null allele of the human V beta 18 gene, resulting from a nucleotide substitution that creates a stop codon (CGA&amp;lt;--&amp;gt;TGA). Approximately 11% of the population tested was homozygous for this null allele, indicating that this is a frequent \"hole in the repertoire.\" We confirmed that there is a greatly reduced (undetectable) level of V beta 18 mRNA in peripheral blood lymphocytes from an individual homozygous for this null allele. In addition, all heterozygous individuals expressed detectable levels of only the functional V beta 18 allele in their peripheral blood lymphocytes. Two other DNA polymorphisms were identified in V beta 18, one of which would result in an amino acid substitution in an expressed V beta 18 gene. Genotypes for all three of these V beta 18 DNA polymorphisms were determined in a group of unrelated individuals. Statistical analyses of the associations between alleles of the V beta 18 polymorphisms and those of other DNA polymorphisms in the TCR beta locus suggested a close physical proximity between the V beta 18 gene and the 3' end of the C beta 2 region. This localization of human V beta 18 had been previously predicted by the sequence homology between human V beta 18 and mouse V beta 14, a V gene segment previously mapped to 3' of the mouse C beta genes. We confirmed this localization of the human V beta 18 gene by isolating a cosmid clone that contains both the V beta 18 and C beta 2 segments. Mapping by restriction enzyme digestion and by the polymerase chain reaction indicated that the V beta 18 gene segment is approximately 9 kb 3' of the C beta 2 gene, making this the only known human V beta gene 3' of the C beta region.<\/jats:p>","DOI":"10.1084\/jem.177.1.135","type":"journal-article","created":{"date-parts":[[2004,6,24]],"date-time":"2004-06-24T07:56:10Z","timestamp":1088063770000},"page":"135-143","update-policy":"http:\/\/dx.doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":45,"title":["Identification and physical mapping of a polymorphic human T cell receptor V beta gene with a frequent null allele."],"prefix":"10.1084","volume":"177","author":[{"given":"P","family":"Charmley","sequence":"first","affiliation":[{"name":"Division of Biology, California Institute of Technology, Pasadena 91125."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Biology, California Institute of Technology, Pasadena 91125."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Hood","sequence":"additional","affiliation":[{"name":"Division of Biology, California Institute of Technology, Pasadena 91125."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Division of Biology, California Institute of Technology, Pasadena 91125."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"291","published-online":{"date-parts":[[1993,1,1]]},"container-title":["The Journal of experimental medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/177\/1\/135\/1674117\/135.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/177\/1\/135\/1674117\/135.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T04:50:56Z","timestamp":1690260656000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jem\/article\/177\/1\/135\/24643\/Identification-and-physical-mapping-of-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,1,1]]}},"URL":"https:\/\/doi.org\/10.1084\/jem.177.1.135","relation":{},"ISSN":["0022-1007","1540-9538"],"issn-type":[{"value":"0022-1007","type":"print"},{"value":"1540-9538","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1,1]]}}}