The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
作者： Marc Nicolino , Anne Lienhardt-Roussie , Annie Nivelon , Alain Verloes , David Schlessinger
DOI: 10.1038/84781
关键词: Female sex determination 、 Transcription Factor Gene 、 Blepharophimosis 、 Forkhead box L2 、 FOXL2 Gene 、 Candidate gene 、 Biology 、 Winged Helix 、 Genetics 、 Ptosis
摘要: In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated produce truncated proteins in families and larger II. Consistent an involvement those tissues, FOXL2 selectively expressed mesenchyme of developing mouse eyelids adult follicles; humans, it appears predominantly ovary. represents candidate gene for polled/intersex XX sex-reversal goat.
nature.com
core.ac.uk
elsevier.com
units.it参考文章(50)
L. Zelante, D. Bonneau, J. C. Chomel, J. Zlotogora, P. Gasparini, A. Kitzis, J. Kaplan, P. Amati, A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. American Journal of Human Genetics. ,vol. 58, pp. 1089- 1092 ,(1996)
Roderick J. Clifton-Bligh, John M. Wentworth, Peter Heinz, Michele S. Crisp, Rhys John, John H. Lazarus, Marian Ludgate, V. Krishna Chatterjee, Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia Nature Genetics. ,vol. 19, pp. 399- 401 ,(1998) , 10.1038/1294
G S Findlater, R D McDougall, M H Kaufman, Eyelid development, fusion and subsequent reopening in the mouse. Journal of Anatomy. ,vol. 183, pp. 121- 129 ,(1993)
Darryl Y. Nishimura, Ruth E. Swiderski, Wallace L. M. Alward, Charles C. Searby, Shivanand R. Patil, Steven R. Bennet, Adam B. Kanis, Julie M. Gastier, Edwin M. Stone, Val C. Sheffield, The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genetics. ,vol. 19, pp. 140- 147 ,(1998) , 10.1038/493
David G. Wilkinson, M.Angela Nieto, Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts. Methods in Enzymology. ,vol. 225, pp. 361- 373 ,(1993) , 10.1016/0076-6879(93)25025-W
Mario De Felice, Catherine Ovitt, Elio Biffali, Alina Rodriguez-Mallon, Claudio Arra, Konstantinos Anastassiadis, Paolo Emidio Macchia, Marie-Genevieve Mattei, Angela Mariano, Hans Schöler, Vincenzo Macchia, Roberto Di Lauro, A mouse model for hereditary thyroid dysgenesis and cleft palate Nature Genetics. ,vol. 19, pp. 395- 398 ,(1998) , 10.1038/1289
Michael A. Frohman, Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods in Enzymology. ,vol. 218, pp. 340- 356 ,(1993) , 10.1016/0076-6879(93)18026-9
Chester W. Brown, Dianne E. Houston-Hawkins, Teresa K. Woodruff, Martin M. Matzuk, Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions. Nature Genetics. ,vol. 25, pp. 453- 457 ,(2000) , 10.1038/78161
J Zlotogora, T Cohen, M Sagi, The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. American Journal of Human Genetics. ,vol. 35, pp. 1020- 1027 ,(1983)
R Quiring, U Walldorf, U Kloter, W. Gehring, Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans Science. ,vol. 265, pp. 785- 789 ,(1994) , 10.1126/SCIENCE.7914031