{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:32:04Z","timestamp":1779895924417,"version":"3.53.1"},"reference-count":23,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7093,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We suggest that mutations for fragile X\u2010positive Martin\u2010Bell syndrome, and prehaps also for achondroplasia, may result from the insertion of transposable elements (TE's). Loss of genetic function could result from either the insertion of TE's within or adjacent to a normal chromosmal gene or, in the case of fragile X, from the loss of genes distal to the site of TE insertion following subsequent TE excision without ligation of the resulting discontinuity.<\/jats:p><jats:p>The phenotypically and often cytogenetically normal transmitting males in fragile X peidgress are interpreted not as \u201cnonpenetrant\u201d transmitters of a fully formed fragile X but rather as transmitters of some or all of the factors necessary for necessary for TE insertion at Xq27. We consider it likely that such insertion frequently first occurs, both in some and especially in the germline, in their daughters.<\/jats:p><jats:p>Our models predict that father to son transmission of causative factors would be a common occurrence in fragile X pedigrees. The absence of documented father to son transmission either points to a flaw in the models or reflects systematic bias in the collection of pedigree information.<\/jats:p>","DOI":"10.1002\/ajmg.1320230160","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:02:23Z","timestamp":1118520143000},"page":"685-699","source":"Crossref","is-referenced-by-count":22,"title":["Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"Stanton F.","family":"Hoegerman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack M.","family":"Rary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291334"},{"key":"e_1_2_1_3_1","volume-title":"DNA Insertion Elements, Plasmids, and Episomes","author":"Campbell A","year":"1977"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.17.120183.001531"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6095450"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.5.5.991"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00433726"},{"key":"e_1_2_1_8_1","first-page":"216","volume-title":"Principles and Practice of Medical Genetics","author":"Lubs 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treatment with X rays and ethyl methanesulfonate","volume":"110","author":"Ryo H","year":"1985","journal-title":"Genetics"},{"key":"e_1_2_1_18_1","first-page":"s99","article-title":"Mobilization of transposable elements primarily in early cleavage may be responsible for the origin of most spontaneous mutations in laboratory stocks of Drosophila melanogaster","volume":"110","author":"Schalet A","year":"1985","journal-title":"Genetics"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291644"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1984.tb00830.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274770"},{"key":"e_1_2_1_22_1","first-page":"81","article-title":"Achondroplasia: An account of the condition in Northern Ireland","volume":"9","author":"Stevenson AC","year":"1957","journal-title":"Am J Hum 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