Journal article
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
Nature genetics, Vol.14(4), pp.392-399
12/1996
DOI: 10.1038/ng1296-392
PMID: 8944018
Abstract
Rieger syndrome (RIEG) is an autosomal-dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue of RIEG, has also been isolated and shows strong homology with the human sequence. In mouse embryos Rieg mRNA localized in the periocular mesenchyme, maxillary and mandibular epithelia, and umbilicus, all consistent with RIEG abnormalities. The gene is also expressed in Rathke's pouch, vitelline vessels and the limb mesenchyme. RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis.
Details
- Title: Subtitle
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
- Creators
- Elena V SeminaRebecca ReiterNancy J LeysensW. Lee M AlwardKent W SmallNicole A DatsonJacqueline Siegel-BarteltDiane Bierke-NelsonPierre BitounBernhard U ZabelJohn C CareyJeffrey C Murray
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.14(4), pp.392-399
- DOI
- 10.1038/ng1296-392
- PMID
- 8944018
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 12/1996
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Ophthalmology and Visual Sciences
- Record Identifier
- 9984025345702771
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