{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T07:45:17Z","timestamp":1748936717857},"reference-count":37,"publisher":"The Company of Biologists","issue":"Supplement","license":[{"start":{"date-parts":[[1988,9,1]],"date-time":"1988-09-01T00:00:00Z","timestamp":589075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.biologists.com\/user-licence-1-1\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1988,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Congenital malformations such as secondary cleft palate can be exclusively monogenic or polygenic, but most cases have a multifactorial origin involving both environmental and genetic factors, making genetic analysis difficult. The new techniques of molecular genetics have allowed the successful chromosomal localization of mutant genes in disorders that show a simple Mendelian segregation, whether autosomal dominant (e.g. Huntington\u2019s disease), autosomal recessive (cystic fibrosis) or X-Iinked (Duchenne muscular dystrophy). Recently, a large Icelandic family (over 280 members) with X-linked secondary cleft palate and ankyloglossia (tongue-tied) has been used as a model to localize the mutant gene associated with this craniofacial clefting. The gene has been sub-chromosomally localized to Xql3\u2013q21.1, using anonymous probe DXYS1; a LOD score of 3\u00b7 07 was obtained.<\/jats:p>\n               <jats:p>We are preparing cosmid libraries from DNA from mouse cell lines containing only the relevant part of the human X chromosome, introduced by chromosome-mediated gene transfer. Cosmids that contain human X-chromosome sequences will be isolated and analysed for overlapping sequences and RFLPs (restriction fragment length polymorphisms) and the regions further defined by pulsed-field gel electrophoresis and the identification of coding sequences. This should give data on the location and structure of a gene involved in the craniofacial development of the human palatine shelves. This gene, and its protein product, will identify one component of the pathway that causes nonfusion of the palate. In the long term, the understanding of the expression of this sex-linked gene for secondary cleft palate and ankyloglossia will provide a model for the molecular identification of other genes regulating processes in craniofacial development whose expression is hidden in phenotypic, polygenic complexity.<\/jats:p>","DOI":"10.1242\/dev.103.supplement.233","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T00:38:11Z","timestamp":1619397491000},"page":"233-239","source":"Crossref","is-referenced-by-count":13,"title":["The application of molecular genetics to detection of craniofacial abnormality"],"prefix":"10.1242","volume":"103","author":[{"given":"Gudrun","family":"Moore","sequence":"first","affiliation":[{"name":"St Mary\u2019s Hospital Medical School, University of London 1 Department of Biochemistry and Molecular Genetics , , London W2 IPG, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alasdair","family":"Ivens","sequence":"additional","affiliation":[{"name":"St Mary\u2019s Hospital Medical School, University of London 1 Department of Biochemistry and Molecular Genetics , , London W2 IPG, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Chambers","sequence":"additional","affiliation":[{"name":"St Mary\u2019s Hospital Medical School, University of London 1 Department of Biochemistry and Molecular Genetics , , London W2 IPG, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arni","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"National University Hospital 2 Department of Plastic Surgery , , Reykjavik, Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfred","family":"Arnason","sequence":"additional","affiliation":[{"name":"National University Hospital 3 Genetics Division of the Blood Bank , , Reykjavik, Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olafur","family":"Jensson","sequence":"additional","affiliation":[{"name":"National University Hospital 3 Genetics Division of the Blood Bank , , Reykjavik, Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Williamson","sequence":"additional","affiliation":[{"name":"St Mary\u2019s Hospital Medical School, University of London 1 Department of Biochemistry and Molecular Genetics , , London W2 IPG, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[1988,9,1]]},"reference":[{"key":"2023121420255676200_DEVELOP_103_S_233C1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1399-0004.1976.tb01575.x","article-title":"A genetic study of facial clefting in Northern England","volume":"9","author":"Bear","year":"1976","journal-title":"Clin. 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