The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome - Nature Genetics
- ️Pilia, Giuseppe
- ️Thu Feb 01 2001
Aittomaki, K. et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82, 959–968 (1995).
Layman, L.C., Amde, S., Cohen, D.P., Jin, M. & Xie, J. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North America women with 46, XX ovarian failure. Fertil. Steril. 69, 300–302 (1998).
Simpson, J.L. & Rajkovic, A. Ovarian differentiation and gonadal failure. Am. J. Med. Genet. 89, 186–200 (1999).
Bione, S. et al. A human homologue of Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implication for human sterility. Am. J. Hum. Genet. 62, 533–541 (1998).
Prueitt, R.L., Ross, J.L. & Zinn, A.R. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet. Cell Genet. 89, 44–50 (2000).
Zlotogora, J., Sagi, M. & Cohen, T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am. J. Hum. Genet. 35, 1020–1027 (1983).
Amati, P. et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum. Genet. 96, 213–215 (1995).
Amati, P. et al. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22–q23. Am. J. Hum. Genet. 58, 1089–1092 (1996).
Small, K.W. et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum. Mol. Genet. 4, 443–448 (1995).
Boccone, L., Meloni, A., Falchi, A.M., Usai, V. & Cao, A. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. Am. J. Med. Genet. 51, 258–259 (1994).
Bisceglia, L. et al. Cellular retinol binding protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the blepharophimosis ptosis epicanthus inversus ayndrome gene. Mol. Cell. Probes 12, 255–258 (1998).
Frohman, M.A. Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods Enzymol. 218, 340–356 (1993).
Kaestner, K.H., Knochel, W. & Martinez, D.E. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 14, 142–146 (2000).
Treier, M. et al. Multistep signaling requirements for pituitary organogenesis in vivo. Genes Dev. 12, 1691–1704 (1998).
Hanna-Rose, W. & Hansen, U. Active repression mechanisms of eukaryotic transcription repressors. Trends Genet. 12, 229–234 (1996).
De Baere, E. et al. Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint. Genomics 57, 70–78 (1999).
Praphanphoj, V. et al. Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Genomics 65, 67–69 (2000).
Kleinjan, D. & van Heyningen, V. Position effect in human genetic disease. Hum. Mol. Genet. 7, 1611–1618 (1998).
Lawson, C.T. et al. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum. Mol. Genet. 4, 963–967 (1995).
Chandler, K.E., de Die-Smulders, C.E., Engelen, J.J. & Schrander, J.J. Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. Eur. J. Pediatr. 156, 636–638 (1997).
Clark, K.L., Halay, E.D., Lai, E. & Burley, S.K. Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 364, 412–420 (1993).
Kaufmann, E. & Knochel, W. Five years on the wings of fork head. Mech. Dev. 57, 3–20 (1996).
Nehls, M., Pfeifer, D., Schorpp, M., Hedrich, H. & Boehm, T. New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 372, 103–107 (1994).
Ang, S.L. & Rossant, J. HNF-3 β is essential for node and notochord formation in mouse development. Cell 78, 561–574 (1994).
Kaestner, K.H., Silberg, D.G., Traber, P.G. & Schutz, G. The mesenchymal winged helix transcription factor Fkh6 is required for the control of gastrointestinal proliferation and differentiation. Genes Dev. 11, 1583–1595 (1997).
Kume, T. et al. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 93, 985–996 (1998).
Labosky, P.A. et al. The winged helix gene, Mf3, is required for normal development of the diencephalon and midbrain, postnatal growth and the milk-ejection reflex. Development 124, 1263–1274 (1997).
De Felice, M. et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nature Genet. 19, 395–398 (1998).
Clifton-Bligh, R.J. et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nature Genet. 19, 399–401 (1998).
Nishimura, D.Y. et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genet. 19, 140–147 (1998).
Vegetti, W. et al. Premature ovarian failure. Mol. Cell. Endocrinol. 161, 53–57 (2000).
Findlater, G.S., McDougall, R.D. & Kaufman, M.H. Eyelid development, fusion and subsequent reopening in the mouse. J. Anat. 183, 121–129 (1993).
Vassalli, A., Matzuk, M.M., Gardner, H.A., Lee, K.F. & Jaenisch, R. Activin/inhibin β B subunit gene disruption leads to defects in eyelid development and female reproduction. Genes Dev. 8, 414–427 (1994).
Juriloff, D.M., Harris, M.J., Banks, K.G. & Mah, D.G. Gaping lids, gp, a mutation on centromeric chromosome 11 that causes defective eyelid development in mice. Mamm. Genome 11, 440–447 (2000).
Wawersik, S. & Maas, R.L. Vertebrate eye development as modeled in Drosophila. Hum. Mol. Genet. 9, 917–925 (2000).
Quiring, R., Walldorf, U., Kloter, U. & Gehring, W.J. Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans. Science 265, 785–789 (1994).
Mears, A.J. et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld–Rieger anomaly. Am. J. Hum. Genet. 63, 1316–1328 (1998).
Smith, R.S. et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum. Mol. Genet. 9, 1021–1032 (2000).
Fraser, I.S., Shearman, R.P., Smith, A. & Russell, P. An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil. Steril. 50, 747–751 (1988).
Nicolino, M., Bost, M., David, M. & Chaussain, J.L. Familial blepharophimosis: an uncommon marker of ovarian dysgenesis. J. Pediatr. Endocrinol. Metab. 8, 127–133 (1995).
Kaipia, A. & Hsueh, A.J. Regulation of ovarian follicle atresia. Annu. Rev. Physiol. 59, 349–363 (1997).
Chen, X., Rubock, M.J. & Whitman, M. A transcriptional partner for MAD proteins in TGF-β signalling. Nature 383, 691–696 (1996).
Dong, J. et al. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 383, 531–535 (1996).
Brown, C.W., Houston-Hawkins, D.E., Woodruff, T.K. & Matzuk, M.M. Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions. Nature Genet. 25, 453–457 (2000).
Vaiman, D. et al. High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue contained in a human YAC from HSA3q23. Genomics 56, 31–39 (1999).
Lichter, P., Ledbetter, S.A., Ledbetter, D.H. & Ward, D.C. Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc. Natl. Acad. Sci. USA 87, 6634–6638 (1990).
Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
Pilia, G. et al. Jagged-1 mutation analysis in Italian Alagille syndrome patients. Hum. Mutat. 14, 394–400 (1999).
Wilkinson, D.G. & Nieto, M.A. Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts. Methods Enzymol. 225, 361–373 (1993).
Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22, 4673–4680 (1994).