{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T18:09:13Z","timestamp":1782583753477,"version":"3.54.5"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"10","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1990,5]]},"abstract":"<jats:p>We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon 48 and results in the addition of 15 amino acids to the triple-helical domain of the alpha 1 chains of type II collagen derived from the abnormal allele. Although the repeating (Gly-Xaa-Yaa)n motif that characterizes the triple-helical domain is preserved, type II collagen derived from cartilage of the affected individual contains a population with excessive posttranslational modification, consistent with a disruption in triple-helix structure. The mutation is not carried by either parent, indicating that the phenotype in the affected individual is due to a new dominant mutation. DNA sequence homology in the area of the duplication suggests that the mutation may have arisen by unequal crossover between related sequences, a proposed mechanism in the evolution and diversification of the collagen gene family.<\/jats:p>","DOI":"10.1073\/pnas.87.10.3889","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:19:43Z","timestamp":1149059983000},"page":"3889-3893","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":91,"title":["Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia."],"prefix":"10.1073","volume":"87","author":[{"given":"G E","family":"Tiller","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D L","family":"Rimoin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L W","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D H","family":"Cohn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1990,5]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.87.10.3889","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T12:48:59Z","timestamp":1649854139000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.87.10.3889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5]]},"references-count":0,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1990,5]]}},"alternative-id":["10.1073\/pnas.87.10.3889"],"URL":"https:\/\/doi.org\/10.1073\/pnas.87.10.3889","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5]]},"assertion":[{"value":"1990-05-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}