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

Nature Genetics volume 14, pages 392–399 (1996)Cite this article

Abstract

Rieger syndrome (REG) 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.

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Authors and Affiliations

  1. Departments of Pediatrics, The University of Iowa, Iowa City, Iowa, 52242, USA

    Elena V. Semina, Nancy J. Leysens & Jeffrey C. Murray

  2. Biological Sciences, The University of Iowa, Iowa City, Iowa, 52242, USA

    Rebecca Reiter & Jeffrey C. Murray

  3. Ophthalmology, The University of Iowa, Iowa City, Iowa, 52242, USA

    W. Lee M. Alward

  4. Department of Ophthalmology, Jules Stein Eye Institute, UCLA Medical Center, Los Angeles, California, 90095, USA

    Kent W. Small

  5. Sectie Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit Leiden, 2333 AL, Leiden, The Netherlands

    Nicole A. Datson

  6. Department of Clinical Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G1X8, Canada

    Jacqueline Siegel-Bartelt

  7. The Duluth Clinic, Duluth, Minnesota, 55805, USA

    Diane Bierke-Nelson

  8. Pediatrie Gétique, Hétal Jean Verdier, 93143, Bondy cedex, France

    Pierre Bitoun

  9. Department of Pediatrics, Klinikum Johannes Gutenberg–UniverstäMainz, D-55101, Mainz, Germany

    Bernhard U. Zabel

  10. Department of Pediatrics, The University of Utah Health Sciences Center, Salt Lake City, Utah, 84132, USA

    John C. Carey

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  1. Elena V. Semina
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Semina, E., Reiter, R., Leysens, N. et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14, 392–399 (1996). https://doi.org/10.1038/ng1296-392

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