Intracellular distribution of a speech/language disorder associated FOXP2 mutant

Biochemical and Biophysical Research Communications

Volumn 353, Issue 4, 2007, Pages 869-874

  Mizutani, Akifumi ^a,b   Matsuzaki, Ayumi ^a   Momoi, Mariko Y ^b   Fujita, Eriko ^a   Tanabe, Yuko ^a   Momoi, Takashi ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Axenfeld Rieger anomaly; Forkhead; FOX; FOXC1; FOXE1 TTF2; FOXP2; Importin; NLS; Polyglutamine; Speech language disorder

Indexed keywords

ARGININE; HETERODIMER; HISTIDINE; KARYOPHERIN ALPHA; KARYOPHERIN BETA; LEUCINE ZIPPER PROTEIN; MUTANT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXP2; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; FOXP2 GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; LANGUAGE DISABILITY; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOCYTOPLASMIC TRANSPORT; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; SPEECH DISORDER; ZINC FINGER MOTIF;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; BLOTTING, WESTERN; CELL LINE; CELL NUCLEUS; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOPLASM; DIMERIZATION; FORKHEAD TRANSCRIPTION FACTORS; GREEN FLUORESCENT PROTEINS; HUMANS; INTRACELLULAR SPACE; LANGUAGE DISORDERS; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SPECTROMETRY, FLUORESCENCE; SPEECH DISORDERS; TRANSFECTION;

EID: 33846154229     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.12.130     Document Type: Article

References (27)

1. Lehmann O.J., Sowden J.C., Carlsson P., Jordan T., and Bhattacharya S.S. Fox's in development and disease. Trends Genet. 19 (2003) 339-344
2. Nishimura D.Y., Swiderski R.E., Alward W.L., Searby C.C., Patil S.R., Bennet S.R., Kanis A.B., Gastier J.M., Stone E.M., and Sheffield V.C. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat. Genet. 19 (1998) 140-147
3. Clifton-Bligh R.J., Wentworth J.M., Heinz P., Crisp M.S., John R., Lazarus J.H., Ludgate M., and Chatterjee V.K. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat. Genet. 19 (1998) 399-401
4. Wildin R.S., Ramsdell F., Peake J., Faravelli F., Casanova J.L., Buist N., Levy-Lahad E., Mazzella M., Goulet O., Perroni L., Bricarelli F.D., Byrne G., McEuen M., Proll S., Appleby M., and Brunkow M.E. X-Linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27 (2001) 18-20
5. Semina E.V., Brownell I., Mintz-Hittner H.A., Murray J.C., and Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum. Mol. Genet. 10 (2001) 231-236
6. Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P., Bisceglia L., Zelante L., Nagaraja R., Porcu S., Ristaldi M.S., Marzella R., Rocchi M., Nicolino M., Lienhardt-Roussie A., Nivelon A., Verloes A., Schlessinger D., Gasparini P., Bonneau D., Cao A., and Pilia G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 27 (2001) 159-166
7. Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L., Seaver L.H., and Glover T.W. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am. J. Hum. Genet. 67 (2000) 1382-1388
8. Shu W., Yang H., Zhang L., Lu M.M., and Morrisey E.E. Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J. Biol. Chem. 276 (2001) 27488-27497
9. Lai C.S., Fisher S.E., Hurst J.A., Vargha-Khadem F., and Monaco A.P. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413 (2001) 519-523
10. Vargha-Khadem F., Gadian D.G., Copp A., and Mishkin M. FOXP2 and the neuroanatomy of speech and language. Nat. Rev. Neurosci. 6 (2005) 131-138
11. Marcus G.F., and Fisher S.E. FOXP2 in focus: what can genes tell us about speech and language?. Trends Cogn. Sci. 7 (2003) 257-262
12. Liegeois F., Baldeweg T., Connelly A., Gadian D.G., Mishkin M., and Vargha-Khadem F. Language fMRI abnormalities associated with FOXP2 gene mutation. Nat. Neurosci. 6 (2003) 1230-1237
13. Watkins K.E., Vargha-Khadem F., Ashburner J., Passingham R.E., Connelly A., Friston K.J., Frackowiak R.S., Mishkin M., and Gadian D.G. MRI analysis of an inherited speech and language disorder: structural brain abnormalities. Brain 125 (2002) 465-478
14. Lai C.S., Gerrelli D., Monaco A.P., Fisher S.E., and Copp A.J. FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 126 (2003) 2455-2462
15. Bruce H.A., and Margolis R.L. FOXP2: novel exons, splice variants, and CAG repeat length stability. Hum. Genet. 111 (2002) 136-144
16. Macdermot K.D., Bonora E., Sykes N., Coupe A.M., Lai C.S., Vernes S.C., Vargha-Khadem F., McKenzie F., Smith R.L., Monaco A.P., and Fisher S.E. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am. J. Hum. Genet. 76 (2005) 1074-1080
17. Li S., Weidenfeld J., and Morrisey E.E. Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Mol. Cell. Biol. 24 (2004) 809-822
18. Stroud J.C., Wu Y., Bates D.L., Han A., Nowick K., Paabo S., Tong H., and Chen L. Structure of the forkhead domain of FOXP2 bound to DNA. Structure 14 (2006) 159-166
19. Wu Y., Borde M., Heissmeyer V., Feuerer M., Lapan A.D., Stroud J.C., Bates D.L., Guo L., Han A., Ziegler S.F., Mathis D., Benoist C., Chen L., and Rao A. FOXP3 controls regulatory T cell function through cooperation with NFAT. Cell 126 (2006) 375-387
20. Qian X., and Costa R.H. Analysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting. Nucleic Acids Res. 23 (1995) 1184-1191
21. Hellqvist M., Mahlapuu M., Blixt A., Enerback S., and Carlsson P. The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB. J. Biol. Chem. 273 (1998) 23335-23343
22. Berry F.B., Saleem R.A., and Walter M.A. FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. J. Biol. Chem. 277 (2002) 10292-10297
23. Romanelli M.G., Tato L., Lorenzi P., and Morandi C. Nuclear localization domains in human thyroid transcription factor 2. Biochim. Biophys. Acta 1643 (2003) 55-64
24. Saleem R.A., Banerjee-Basu S., Berry F.B., Baxevanis A.D., and Walter M.A. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. Hum. Mol. Genet. 12 (2003) 2993-3005
25. Saleem R.A., Banerjee-Basu S., Murphy T.C., Baxevanis A., and Walter M.A. Essential structural and functional determinants within the forkhead domain of FOXC1. Nucleic Acids Res. 32 (2004) 4182-4193
26. Fujita E., Soyama A., and Momoi T. RA175, which is the mouse ortholog of TSLC1, a tumor suppressor gene in human lung cancer, is a cell adhesion molecule. Exp. Cell Res. 287 (2003) 57-66
27. Pemberton L.F., and Paschal B.M. Mechanisms of receptor-mediated nuclear import and nuclear export. Traffic 6 (2005) 187-198