Cloning and characterization of a novel bicoid -related homeobox transcription factor gene, RIEG , involved in Rieger syndrome

• Published in: Nature genetics Vol. 14; no. 4; pp. 392 - 399
• Main Authors: Alward, W. Lee M, Semina, Elena V, Small, Kent W, Datson, Nicole A, Siegel-Bartelt, Jacqueline, Murray, Jeffrey C, Bierke-Nelson, Diane, Reiter, Rebecca, Zabel, Bernhard U, Carey, John C, Bitoun, Pierre, Leysens, Nancy J
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.12.1996
• Subjects: Abnormalities, Multiple - genetics; Amino Acid Sequence; Animals; Anterior Chamber - abnormalities; Base Sequence; Biological and medical sciences; Cloning, Molecular; DNA Mutational Analysis; DNA, Complementary; Embryonic and Fetal Development - genetics; Exons; Homeobox Protein PITX2; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Malformations of the eye; Medical sciences; Mice; Molecular Sequence Data; Nuclear Proteins; Ophthalmology; Paired Box Transcription Factors; Sequence Homology, Amino Acid; Syndrome; Tooth Abnormalities; Transcription Factors - genetics; Transcription Factors - metabolism; Umbilicus - abnormalities; Human; Nucleotide sequence; Stomatology; Dental disease; Rodentia; Diseases of the osteoarticular system; Homology; Gene organization; Gene expression; Genetic disease; Eye disease; Vertebrata; Mammalia; Mouse; Malformation; Homeotic gene; Development; Genetics; Rieger iridocorneal dysgenesia; Complex syndrome; Transcription factor
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1296-392

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.