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

Publication Type:

Journal Article

Source:

Nat Genet, Volume 14, Number 4, p.392-399 (1996)

DOI Name (links to online publication)

10.1038/ng1296-392

Keywords:

abnormalities; Abnormalities; Multiple; Amino Acid Sequence; Animals; Anterior Chamber; Base Sequence; Cloning; Molecular; DISORDER; Dna; DNA Mutational Analysis; DNA; Complementary; Embryo; Embryonic and Fetal Development; Epithelium; Exons; genetics; Homeo

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

18/01/2013