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

• Murray, J.C. Face facts: genes, environment, and clefts. Am. J. Hum. Genet. 57, 227–232 (1995).
  CAS PubMed PubMed Central Google Scholar
• Winter, R. What's in a face? Nature Genet. 12, 124–129 (1996).
  Google Scholar
• Collins, F.S. Positional cloning moves from perditional to traditional. Nature Genet. 9, 347–350 (1995).
  Article CAS PubMed Google Scholar
• Krumlauf, R. Hox genes in vertebrate development. Cell 78, 191–201 (1994).
  Article CAS PubMed Google Scholar
• Sanyanusin, P. et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux. Nature Genet. 9, 358–363 (1995).
  Article CAS PubMed Google Scholar
• Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637–638 (1992).
  Article CAS PubMed Google Scholar
• Glaser, T., Walton, D.S. & Maas, R.L. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet. 2, 232–238 (1992).
  Article CAS PubMed Google Scholar
• Jabs, E.W. et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75, 443–450 (1993).
  Article CAS PubMed Google Scholar
• Vastardis, H., Karimbux, N., Guthua, S.W., Seidman, J.G. & Seidman, C.E. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genet. 13, 417–421 (1996).
  Article CAS PubMed Google Scholar
• Muragaki, Y., Mundlos S., Upton J. & Olsen B.J. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272, 548–551 (1996).
  Article CAS PubMed Google Scholar
• Brunelli, S. et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet. 12, 94–96 (1996).
  Article CAS PubMed Google Scholar
• Pfäffte, R.W. et al. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 257, 1118–1121 (1992).
  Article Google Scholar
• Vossius, A. Kongenitaleanomalien der iris. Kiln. Mbl. Augenheilk 21, 233–237 (1883).
  Google Scholar
• Darwin, C. Animals and plants under domestication 1, chapter 12, 434–461 (D. Appteton & Co, New York, 1893).
  Google Scholar
• Rieger, H. Dysgenesis mesodermaiis coreneal et iridis. Z. Augenheik 86, 333 (1935).
  Google Scholar
• Murray, J.C. et al. Linkage of Rieger syndrome to the region of the epidermal growth factor on chromosome 4. Nature Genet. 2, 46–49 (1992).
  Article CAS PubMed Google Scholar
• Phillips, J.C. et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am. J. Hum. Genet. 59, 613–619 (1996).
  CAS PubMed PubMed Central Google Scholar
• Slavkin, H.C. Rieger syndrome revisited: experimental approaches using phamiacologic and antisense strategies to abrogate EGF and TGF-a functions resulting in dysmorphogenesis during embryonic mouse crantofacial morphogenesis. Am. J. Med. Genet. 47, 689–697 (1993).
  Article CAS PubMed Google Scholar
• Datson, N. et al. Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints wrthin a 50-kb region. Am. J. Hum. Genet, (in the press).
• Semina, E. et al. Exclusion of epidermal growth factor (EGF) and high-resolution physical mapping across the Rieger syndrome locus. Am. J. Hum. Genet, (in the press).
• Padanilam, B.J. et al. Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum. Mol. Genet. 1, 407–410 (1992).
  Article CAS PubMed Google Scholar
• Kozak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563–574 (1996).
  Article CAS PubMed Google Scholar
• Lamonerie, T. et al. Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev. 10, 1284–1295 (1996).
  Article CAS PubMed Google Scholar
• Szeto, D.P., Ryan, A.K., O'Connell, S.M. & Rosenfeld, M.G. P-OTX: A PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development. Proc. Natl. Acad. Sci. USA 93, 7706–7710 (1996).
  Article CAS PubMed PubMed Central Google Scholar
• Hanes, S.D. & Brent, R. DNA specificity of the bicoid activator protein is determined by homeodomain recognition helix residue 9. Cell 57, 1275–1283 (1989).
  Article CAS PubMed Google Scholar
• Jin, Y., Hoskins, R. & Horvitz, H.R. Control of type-D GABAergic neuron differentiation by C. elegans UNC-30 homeodomain protein. Nature 372, 780–783 (1994).
  Article CAS PubMed Google Scholar
• Simeone, A. et al. A vertebrate gene related to ortnodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J. 12, 2735–2747 (1993).
  Article CAS PubMed PubMed Central Google Scholar
• Hanes, S.D., Riddihough, G., Ish-Horowicz, D. & Brent, R. Specific DNA recognition and intersite spacing are critical for action of the bicoid morphogen. Mol. Cell Biol. 14, 3364–3375 (1994).
  Article CAS PubMed PubMed Central Google Scholar
• Nohno, T. et al. A chicken homeobox gene related to Drosophila paired is predominantly expressed in the developing limb. Dev. Biol. 158, 254–264 (1993).
  Article CAS PubMed Google Scholar
• Leussink, B. et al. Expression patterns of the paired-related homeobox genes Mhox/Prx1 and S8/Prx2 suggest roles in development of the heart and forebrain. Mech. Dev. 52, 51–64 (1995).
  Article CAS PubMed Google Scholar
• Zhao, G.Q., Eberspaecher, H., Seldin, M.F. & de Crombrugghe, B. The gene for the homeodomain-containing protein Cart-7 is expressed in cells that have a chondrogenic potential during embryonic development. Mech. Dev. 48, 245–254 (1994).
  Article CAS PubMed Google Scholar
• Schneta, K., Spielmann, p., & Noll, M. Molecular genetics of aristaless, a _prd_-type homeo box gene involved in the morphogenesis of proximal and distal pattern elements in a subset of appendages in Drosophila . Genes Dev. 7, 114–129 (1993).
  Article Google Scholar
• Saito, T., Greenwood, A., Sun, Q. & Anderson, D.J. Identification by differential RT-PCR of a novel paired homeodomain protein specifically expressed in sensory neurons and a subset of their CNS targets. Mol. Cell. Neurosci. 6, 280–292 (1995).
  Article CAS PubMed Google Scholar
• Liu, I.S. et al. Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer. Neuron 13, 377–393 (1994).
  Article CAS PubMed Google Scholar
• Simeone, A. et al. Ortnopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and Drosophila. Neuron 13, 81–101 (1994).
  Article Google Scholar
• Shapiro, M.B. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl. Adds Res. 15, 7155–7174 (1987).
  Article CAS Google Scholar
• Reed, R. The organization of 3′ splice-site sequences in mammalian introns. Genes Dev. 3, 2113–2123 (1989).
  Article CAS PubMed Google Scholar
• Bedell, M.A., Jenkins, N.A. & Copeland, N.G. Good genes in bad neighbourhoods. Nature Genet. 12, 229–232 (1996).
  Article CAS PubMed Google Scholar
• Berieth, T. et al. The role of localization of bicoid RNA in organizing the anterior pattern of the Drosophila embryo. EMBO J. 7, 1749–56 (1988).
  Article Google Scholar
• Simmons, D.M. et al. Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors. Genes Dev. 4, 695–711 (1990).
  Article CAS PubMed Google Scholar
• Feingold, M., Shiere, F., Fogels, H.R. & Donaldson, D. Rieger's syndrome. Pediatr. 44, 564–569 (1969).
  CAS Google Scholar
• Sadeghi-Nejad, A. & Senior, B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J. Pediatr. 85, 644–648 (1974).
  Article CAS PubMed Google Scholar
• Treisman, J., Harris, E., Wilson, D. & Desplan, C. The homeodomain: a new face for the helix-turn-helix?. BioEssays 14, 145–150 (1992).
  Article CAS PubMed Google Scholar
• Asson-Batres, M.A., Spurgeon, S.L., Diaz, J. deLoughery, T.G. & Bagby, G.C. Evolutionary conservation of the AU-rich 3′ untranslated region of messenger RNA. Proc. Natl. Acad. Sci. USA 91, 1318–1322 (1994).
  Article CAS PubMed PubMed Central Google Scholar
• Beelman, C.A. & Parker, R. Degradation of mRNA in eukaryotes. Cell 81, 179–183 (1995).
  Article CAS PubMed Google Scholar
• Dubnau, J. & Struhl, G. RNA recognition and translational regulation by a homeodomain protein. Nature 379, 694–699 (1996).
  Article CAS PubMed Google Scholar
• Heon, E. et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum. Mol. Genet. 4, 1435–1439 (1995).
  Article CAS PubMed Google Scholar
• Alkemade, P.P.H. Dysgenesis mesodermaiis of the iris and the cornea: a study of Rieger's syndrome and Peter's anomaly (Charles C. Thomas, Assen, Netherlands, 1969).
  Google Scholar
• MacKenzie, A., Ferguson, M.W.J. & Sharpe, R.T. Expression patterns of the homeobox gene, Hox-8, in the mouse embryo suggest a role in specifying tooth initiation and shape. Development 115, 403–420 (1992).
  CAS PubMed Google Scholar
• Krespi, Y.P. & Pertsemlidis, D. Rieger's syndrome associated with a large Meckel's diverticulum. Am. J. Gastroenter. 71, 608–610 (1979).
  CAS PubMed Google Scholar
• Rogers, R.C. Rieger syndrome. Proc. Greenwood Genet. Center 7, 9–13 (1988).
  Google Scholar
• Crawford, R.A.D. Iris dysgenesis with other anomalies. Brit. J. Ophthalmol. 51, 438–440 (1967).
  Article CAS Google Scholar
• Fitch, N. & Kaback, M., Axenfeld syndrome and the Rieger syndrome. J. Med. Genet. 15, 30–34 (1978).
  Article CAS PubMed PubMed Central Google Scholar
• Eiberg, H., Bixler, B., Nielsen, L.S., Coneally, P.M. & Mohr, J. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin. Genet. 32, 129–132 (1987).
  Article CAS PubMed Google Scholar
• Moore, G.E. et al. Linkage of an X-chromosome cleft palate gene. Nature 326, 91–92 (1987).
  Article CAS PubMed Google Scholar
• Murray, J.C. et al. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am. J. Hum. Genet. 46, 486–491 (1990).
  CAS PubMed PubMed Central Google Scholar
• Muenke, M. et al. Linkage of human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Nat. Acad. Sci. USA 91, 8102–8106 (1994).
  Article CAS PubMed PubMed Central Google Scholar
• Tassabehji, M. et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635–636 (1992).
  Article CAS PubMed Google Scholar
• Dixon, J. et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet. 12, 130–136 (1996).
  Article Google Scholar
• Slaney, S.F. et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58, 923–932 (1996).
  CAS PubMed PubMed Central Google Scholar
• Pasteris, N.G. et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79, 669–678 (1994).
  Article CAS PubMed Google Scholar
• Gasser, D.L., Goldner-Sauve, A., Katsuma, M. & Goldman, A.S. Restriction fragment length polymorphisms, glucocorticoid receptors, and phenytoin-induced cleft palate in congenic strains of mice with serious susceptibility differences. J. Craniofac. Genet. Dev. Bio. 11, 366–371 (1991).
  CAS Google Scholar
• Karoiyi, J. & Erickson, R.R. A region of the mouse genome homologous to human chromosome 1 q21 affects facial clefting. J. Craniofac. Genet. Dev. Bio. 13, 1–5 (1993).
  Google Scholar
• Satokata, I. & Maas, R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nature Genet. 6, 348–356 (1994).
  Article CAS PubMed Google Scholar
• Juriloff, D.M. & Mah, D.G. The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11. Mamm. Genome 6, 63–69 (1995).
  Article CAS PubMed Google Scholar
• Kaartinen, V. et al. Abnormal lung development and cleft palate in mice lacking TGF- β3 indicates defects of epitnelial-mesenchymal interaction. Nature Genet. 11, 415–421 (1995).
  Article CAS PubMed Google Scholar
• Proetzel, G. et al. Transforming growth factor- β3 is required for secondary palate fusion. Nature Genet. 11, 409–414 (1995).
  Article CAS PubMed Google Scholar
• Qiu, M. et al. Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev. 9, 2523–2538 (1995).
  Article CAS PubMed Google Scholar
• Lindsay, S. & Bird, A.P. Use of restriction enzymes to detect potential gene sequences in mammalian DNA. Nature 327, 336–338 (1987).
  Article CAS PubMed Google Scholar
• Theiler, K., Atlas of Embryonic Development (Springer-Veriag, New York, 1989).
  Google Scholar
• Sassoon, D. & Rosenthal, N. Detection of messenger RNA by in situ hybridization. Meth. Enzymol. 225, 384–404 (1993).
  Article CAS Google Scholar
• Harland M. H. & Richard, M. H. In situ hybridization: an improved whole-mount method for Xenopus embryos. Meth. Cell Biol. 36, 685–695, Appendix G (1991).
  Article CAS Google Scholar