Sox2 Transcriptionally Regulates Pqbp1, an Intellectual Disability-Microcephaly Causative Gene, in Neural Stem Progenitor Cells

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Li, Chan ^a   Ito, Hikaru ^a   Fujita, Kyota ^a   Shiwaku, Hiroki ^a   Qi, Yunlong ^a   Tagawa, Kazuhiko ^a   Tamura, Takuya ^a   Okazawa, Hitoshi ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; POLYGLUTAMINE TRACT BINDING PROTEIN 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR BRN2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR POU; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; CONSENSUS SEQUENCE; ELECTROPORATION; EMBRYO; GEL MOBILITY SHIFT ASSAY; GENE SEQUENCE; IMMUNOHISTOCHEMISTRY; MOUSE; MOUSE EMBRYO; NEURAL STEM CELL; NONHUMAN; PQBP1 GENE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TRANSCRIPTION REGULATION; WESTERN BLOTTING;

ANIMALS; BLOTTING, WESTERN; CARRIER PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EYE PROTEINS; HOMEODOMAIN PROTEINS; IMMUNOHISTOCHEMISTRY; MICE; MICE, KNOCKOUT; NERVE TISSUE PROTEINS; NEURAL STEM CELLS; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; POU DOMAIN FACTORS; REPRESSOR PROTEINS; SOXB1 TRANSCRIPTION FACTORS;

EID: 84880487055     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0068627     Document Type: Article

References (43)

1. Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, et al. (1999) PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet 8: 977-987.
2. Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, et al. (1998) Polar amino acid-rich sequences bind to polyglutamine tracts. Biochem Biophys Res Commun 253: 16-20.
3. Busch A, Engemann S, Lurz R, Okazawa H, Lehrach H, et al. (2003) Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease. J Biol Chem 278: 41452-41461.
4. Okazawa H, Rich T, Chang A, Lin X, Waragai M, et al. (2002) Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 34: 701-713.
5. Llorian M, Beullens M, Andres I, Ortiz JM, Bollen M, (2004) SIPP1, a novel pre-mRNA splicing factor and interactor of protein phosphatase-1. Biochem J 378: 229-238.
6. Komuro A, Saeki M, Kato S, (1999) Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine. J Biol Chem 274: 36513-36519.
7. Zhang Y, Lindblom T, Chang A, Sudol M, Sluder AE, et al. (2000) Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1. Gene 257: 33-43.
8. Waragai M, Junn E, Kajikawa M, Takeuchi S, Kanazawa I, et al. (2000) PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U 5-15 kD/dim1p via the carboxyl-terminal domain. Biochem Biophys Res Commun 273: 592-595.
9. Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, et al. (2010) Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem 285: 19391-19401.
10. Huang X, Beullens M, Zhang J, Zhou Y, Nicolaescu E, et al. (2009) Structure and function of the two tandem WW domains of the pre-mRNA splicing factor FBP21 (formin-binding protein 21). J Biol Chem 284: 25375-25387.
11. Kunde SA, Musante L, Grimme A, Fischer U, Muller E, et al. (2011) The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet 20: 4916-4931.
12. Qi Y, Hoshino M, Wada Y, Marubuchi S, Yoshimura N, et al. (2005) PQBP-1 is expressed predominantly in the central nervous system during development. Eur J Neurosci 22: 1277-1286.
13. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, et al. (2007) Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28: 207-208.
14. Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, et al. (2005) Renpenning syndrome comes into focus. Am J Med Genet A 134: 415-421.
15. Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, et al. (2004) Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 74: 777-780.
16. Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, et al. (2004) Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet 66: 318-326.
17. Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, et al. (2003) Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet 35: 313-315.
18. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, et al. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131: 861-872.
19. Okazawa H, Okamoto K, Ishino F, Ishino-Kaneko T, Takeda S, et al. (1991) The oct3 gene, a gene for an embryonic transcription factor, is controlled by a retinoic acid repressible enhancer. Embo J 10: 2997-3005.
20. Scholer HR, Ruppert S, Suzuki N, Chowdhury K, Gruss P, (1990) New type of POU domain in germ line-specific protein Oct-4. Nature 344: 435-439.
21. Rosner MH, Vigano MA, Ozato K, Timmons PM, Poirier F, et al. (1990) A POU-domain transcription factor in early stem cells and germ cells of the mammalian embryo. Nature 345: 686-692.
22. Okamoto K, Okazawa H, Okuda A, Sakai M, Muramatsu M, et al. (1990) A novel octamer binding transcription factor is differentially expressed in mouse embryonic cells. Cell 60: 461-472.
23. Kim JB, Greber B, Arauzo-Bravo MJ, Meyer J, Park KI, et al. (2009) Direct reprogramming of human neural stem cells by OCT4. Nature 461: 649-643.
24. Nishimoto M, Fukushima A, Okuda A, Muramatsu M, (1999) The gene for the embryonic stem cell coactivator UTF1 carries a regulatory element which selectively interacts with a complex composed of Oct-3/4 and Sox-2. Mol Cell Biol 19: 5453-5465.
25. Yuan H, Corbi N, Basilico C, Dailey L, (1995) Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. Genes Dev 9: 2635-2645.
26. Dailey L, Yuan H, Basilico C, (1994) Interaction between a novel F9-specific factor and octamer-binding proteins is required for cell-type-restricted activity of the fibroblast growth factor 4 enhancer. Mol Cell Biol 14: 7758-7769.
27. Kamachi Y, Uchikawa M, Kondoh H, (2000) Pairing SOX off: with partners in the regulation of embryonic development. Trends Genet 16: 182-187.
28. Pesce M, Scholer HR, (2001) Oct-4: gatekeeper in the beginnings of mammalian development. Stem Cells 19: 271-278.
29. Tanaka S, Kamachi Y, Tanouchi A, Hamada H, Jing N, et al. (2004) Interplay of SOX and POU factors in regulation of the Nestin gene in neural primordial cells. Mol Cell Biol 24: 8834-8846.
30. Chin JH, Shiwaku H, Goda O, Komuro A, Okazawa H, (2009) Neural stem cells express Oct-3/4. Biochem Biophys Res Commun 388: 247-251.
31. Lengner CJ, Camargo FD, Hochedlinger K, Welstead GG, Zaidi S, et al. (2007) Oct4 expression is not required for mouse somatic stem cell self-renewal. Cell Stem Cell 1: 403-415.
32. Monuki ES, Kuhn R, Weinmaster G, Trapp BD, Lemke G, (1990) Expression and activity of the POU transcription factor SCIP. Science 249: 1300-1303.
33. Monuki ES, Weinmaster G, Kuhn R, Lemke G, (1989) SCIP: a glial POU domain gene regulated by cyclic AMP. Neuron 3: 783-793.
34. Masui S, Nakatake Y, Toyooka Y, Shimosato D, Yagi R, et al. (2007) Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells. Nat Cell Biol 9: 625-635.
35. Yamanaka S, Blau HM, (2010) Nuclear reprogramming to a pluripotent state by three approaches. Nature 465: 704-712.
36. Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N, et al. (2003) Multipotent cell lineages in early mouse development depend on SOX2 function. Genes Dev 17: 126-140.
37. Okuda T, Tagawa K, Qi ML, Hoshio M, Ueda H, et al. (2004) Oct-3/4 repression accelerates differentiation of neural progenitor cells in vitro and in vivo. Brain Res Mol Brain Res 132: 18-30.
38. Ito H, Yoshimura N, Kurosawa M, Ishii S, Nukina N, et al. (2009) Knock-down of PQBP1 impairs anxiety-related cognition in mouse. Hum Mol Genet 18: 4239-4254.
39. Tamura T, Horiuchi D, Chen YC, Sone M, Miyashita T, et al. (2010) Drosophila PQBP1 regulates learning acquisition at projection neurons in aversive olfactory conditioning. J Neurosci 30: 14091-14101.
40. Engelen E, Akinci U, Bryne JC, Hou J, Gontan C, et al. (2011) Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet 43: 607-611.
41. Ferri AL, Cavallaro M, Braida D, Di Cristofano A, Canta A, et al. (2004) Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development 131: 3805-3819.
42. Lindvall O, Kokaia Z, (2006) Stem cells for the treatment of neurological disorders. Nature 441: 1094-1096.
43. Inoue M, Kamachi Y, Matsunami H, Imada K, Uchikawa M, et al. (2007) PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development. Genes Cells 12: 1049-1061.