Faculty Collaboration Database

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996 Dec;14(4):392-9

Date

12/01/1996

Pubmed ID

8944018

DOI

10.1038/ng1296-392

Scopus ID

2-s2.0-10544233785 (requires institutional sign-in at Scopus site)   790 Citations

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.

Author List

Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Amino Acid Sequence
Animals
Anterior Chamber
Base Sequence
Cloning, Molecular
DNA Mutational Analysis
DNA, Complementary
Embryonic and Fetal Development
Exons
Homeodomain Proteins
Humans
Mice
Molecular Sequence Data
Nuclear Proteins
Paired Box Transcription Factors
Sequence Homology, Amino Acid
Syndrome
Tooth Abnormalities
Transcription Factors
Umbilicus