G. David, N. Abbas, G. Stevanin, A. Dürr, G. Yvert et al., Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion, Nature Genetics, vol.17, issue.1, pp.65-70, 1997.

A. Michalik, J. J. Martin, and C. Van-broeckhoven, Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy, European Journal of Human Genetics, vol.12, issue.1, pp.2-15, 2003.

C. J. Cummings and H. Y. Zoghbi, Fourteen and counting: unraveling trinucleotide repeat diseases, Human Molecular Genetics, vol.9, issue.6, pp.909-916, 2000.

T. P. Enevoldson, M. D. Sanders, and A. E. Harding, Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes, Brain, vol.117, issue.3, pp.445-460, 1994.

D. Helmlinger, S. Hardy, S. Sasorith, F. Klein, and F. Robert, Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes, Human Molecular Genetics, vol.13, issue.12, pp.1257-1265, 2004.
URL : https://hal.archives-ouvertes.fr/hal-02371883

M. Brand, K. Yamamoto, A. Staub, and L. Tora, Identification of TATA-binding Protein-free TAFII-containing Complex Subunits Suggests a Role in Nucleosome Acetylation and Signal Transduction, Journal of Biological Chemistry, vol.274, issue.26, pp.18285-18289, 1999.

E. Martinez, T. K. Kundu, J. Fu, and R. G. Roeder, A Human SPT3-TAFII31-GCN5-L Acetylase Complex Distinct from Transcription Factor IID, Journal of Biological Chemistry, vol.273, issue.37, pp.23781-23785, 1998.

S. Hardy, M. Brand, G. Mittler, J. Yanagisawa, S. Kato et al., TATA-binding Protein-free TAF-containing Complex (TFTC) and p300 Are Both Required for Efficient Transcriptional Activation, Journal of Biological Chemistry, vol.277, issue.36, pp.32875-32882, 2002.

M. J. Carrozza, R. T. Utley, J. L. Workman, and J. Côté, The diverse functions of histone acetyltransferase complexes, Trends in Genetics, vol.19, issue.6, pp.321-329, 2003.

P. A. Grant, L. Duggan, J. Cote, S. M. Roberts, J. E. Brownell et al., Yeast Gcn5 functions in two multisubunit complexes to acetylate nucleosomal histones: characterization of an Ada complex and the SAGA (Spt/Ada) complex., Genes & Development, vol.11, issue.13, pp.1640-1650, 1997.

E. Martinez, Multi-protein complexes in eukaryotic gene transcription, Plant Molecular Biology, vol.50, issue.6, pp.925-947, 2002.

K. L. Huisinga and B. F. Pugh, A Genome-Wide Housekeeping Role for TFIID and a Highly Regulated Stress-Related Role for SAGA in Saccharomyces cerevisiae, Molecular Cell, vol.13, issue.4, pp.573-585, 2004.

K. L. Sugars and D. C. Rubinsztein, Transcriptional abnormalities in Huntington disease, Trends in Genetics, vol.19, issue.5, pp.233-238, 2003.

C. J. Jeon, E. Strettoi, and R. H. Masland, The Major Cell Populations of the Mouse Retina, The Journal of Neuroscience, vol.18, issue.21, pp.8936-8946, 1998.

L. D. Carter-dawson and M. M. Lavail, Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopy, The Journal of Comparative Neurology, vol.188, issue.2, pp.245-262, 1979.

G. Yvert, K. S. Lindenberg, S. Picaud, G. B. Landwehrmeyer, and J. A. Sahel, Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice, Human Molecular Genetics, vol.9, issue.17, pp.2491-2506, 2000.

D. Helmlinger, G. Abou-sleymane, G. Yvert, S. Rousseau, and C. Weber, Disease Progression Despite Early Loss of Polyglutamine Protein Expression in SCA7 Mouse Model, Journal of Neuroscience, vol.24, issue.8, pp.1881-1887, 2004.
URL : https://hal.archives-ouvertes.fr/hal-02371887

S. Y. Yoo, M. E. Pennesi, E. J. Weeber, B. Xu, R. Atkinson et al., SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity, Neuron, vol.37, issue.3, pp.383-401, 2003.

S. J. Mcmahon, M. G. Pray-grant, D. Schieltz, J. R. Yates, and P. A. Grant, Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity, Proceedings of the National Academy of Sciences, vol.102, issue.24, pp.8478-8482, 2005.

V. B. Palhan, S. Chen, G. H. Peng, A. Tjernberg, A. M. Gamper et al., Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration, Proceedings of the National Academy of Sciences, vol.102, issue.24, pp.8472-8477, 2005.

K. P. Mitton, P. K. Swain, S. Chen, S. Xu, D. J. Zack et al., The Leucine Zipper of NRL Interacts with the CRX Homeodomain, Journal of Biological Chemistry, vol.275, issue.38, pp.29794-29799, 2000.

A. J. Mears, M. Kondo, P. K. Swain, Y. Takada, R. A. Bush et al., Nrl is required for rod photoreceptor development, Nature Genetics, vol.29, issue.4, pp.447-452, 2001.

S. Chen, Q. L. Wang, Z. Nie, H. Sun, G. Lennon et al., Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific Genes, Neuron, vol.19, issue.5, pp.1017-1030, 1997.

T. Furukawa, E. M. Morrow, and C. L. Cepko, Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor Differentiation, Cell, vol.91, issue.4, pp.531-541, 1997.

M. Kobayashi, S. Takezawa, K. Hara, R. T. Yu, Y. Umesono et al., Identification of a photoreceptor cell-specific nuclear receptor, Proceedings of the National Academy of Sciences, vol.96, issue.9, pp.4814-4819, 1999.

N. B. Haider, J. K. Naggert, and P. M. Nishina, Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice, Human Molecular Genetics, vol.10, issue.16, pp.1619-1626, 2001.

G. Abou-sleymane, F. Chalmel, D. Helmlinger, A. Lardenois, C. Thibault et al., Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program, Human Molecular Genetics, vol.15, issue.5, pp.691-703, 2006.
URL : https://hal.archives-ouvertes.fr/hal-02371870

Z. Nie, S. Chen, R. Kumar, and D. J. Zack, RER, an Evolutionarily Conserved Sequence Upstream of the Rhodopsin Gene, Has Enhancer Activity, Journal of Biological Chemistry, vol.271, issue.5, pp.2667-2675, 1996.

J. Zhang, J. Gray, L. Wu, G. Leone, S. Rowan et al., Rb regulates proliferation and rod photoreceptor development in the mouse retina, Nature Genetics, vol.36, issue.4, pp.351-360, 2004.

P. A. Grant, D. Schieltz, M. G. Pray-grant, D. J. Steger, J. C. Reese et al., A Subset of TAFIIs Are Integral Components of the SAGA Complex Required for Nucleosome Acetylation and Transcriptional Stimulation, Cell, vol.94, issue.1, pp.45-53, 1998.

M. Brand, J. G. Moggs, M. Oulad-abdelghani, F. Lejeune, and F. J. Dilworth, UV-damaged DNA-binding protein in the TFTC complex links DNA damage recognition to nucleosome acetylation, The EMBO Journal, vol.20, issue.12, pp.3187-3196, 2001.

A. B. Bowman, S. Y. Yoo, N. P. Dantuma, and H. Y. Zoghbi, Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin?proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation, Human Molecular Genetics, vol.14, issue.5, pp.679-691, 2005.

R. Luthi-carter, A. Strand, N. L. Peters, S. M. Solano, and Z. R. Hollingsworth, Decreased expression of striatal signaling genes in a mouse model of Huntington's disease, Human Molecular Genetics, vol.9, issue.9, pp.1259-1271, 2000.

R. Luthi-carter, A. D. Strand, S. A. Hanson, C. Kooperberg, and G. Schilling, Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects, Human Molecular Genetics, vol.11, issue.17, pp.1927-1937, 2002.

P. A. Grant, A. Eberharter, S. John, R. G. Cook, B. M. Turner et al., Expanded Lysine Acetylation Specificity of Gcn5 in Native Complexes, Journal of Biological Chemistry, vol.274, issue.9, pp.5895-5900, 1999.

R. Balasubramanian, M. G. Pray-grant, W. Selleck, P. A. Grant, and S. Tan, Role of the Ada2 and Ada3 Transcriptional Coactivators in Histone Acetylation, Journal of Biological Chemistry, vol.277, issue.10, pp.7989-7995, 2001.

R. E. Hughes, R. S. Lo, C. Davis, A. D. Strand, C. L. Neal et al., Altered transcription in yeast expressing expanded polyglutamine, Proceedings of the National Academy of Sciences, vol.98, issue.23, pp.13201-13206, 2001.

F. Giorgini, P. Guidetti, Q. Nguyen, S. C. Bennett, and P. J. Muchowski, A genomic screen in yeast implicates kynurenine 3-monooxygenase as a therapeutic target for Huntington disease, Nature Genetics, vol.37, issue.5, pp.526-531, 2005.

D. Helmlinger, S. Hardy, A. Eberlin, D. Devys, and L. Tora, Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes, Biochemical Society Symposia, vol.73, pp.155-163, 2006.

L. Spada, A. R. Fu, Y. H. Sopher, B. L. Libby, R. T. Wang et al., Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7, Neuron, vol.31, pp.913-927, 2001.

S. Chen, G. H. Peng, X. Wang, A. C. Smith, and S. K. Grote, Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization, Human Molecular Genetics, vol.13, issue.1, pp.53-67, 2003.

D. Chen, A. S. Belmont, and S. Huang, Upstream binding factor association induces large-scale chromatin decondensation, Proceedings of the National Academy of Sciences, vol.101, issue.42, pp.15106-15111, 2004.

A. E. Carpenter, S. Memedula, M. J. Plutz, and A. S. Belmont, Common Effects of Acidic Activators on Large-Scale Chromatin Structure and Transcription, Molecular and Cellular Biology, vol.25, issue.3, pp.958-968, 2005.

K. Y. Chau, N. Munshi, A. Keane-myers, K. W. Cheung-chau, A. K. Tai et al., The Architectural Transcription Factor High Mobility Group I(Y) Participates in Photoreceptor-Specific Gene Expression, The Journal of Neuroscience, vol.20, issue.19, pp.7317-7324, 2000.

N. Munshi, T. Agalioti, S. Lomvardas, M. Merika, and G. Chen, Coordination of a Transcriptional Switch by HMGI(Y) Acetylation, Science, vol.293, issue.5532, pp.1133-1136, 2001.

D. L. Spector and S. M. Gasser, A molecular dissection of nuclear function, EMBO reports, vol.4, issue.1, pp.18-23, 2003.

S. M. Janicki, T. Tsukamoto, S. E. Salghetti, W. P. Tansey, R. Sachidanandam et al., From Silencing to Gene Expression, Cell, vol.116, issue.5, pp.683-698, 2004.
URL : https://hal.archives-ouvertes.fr/hal-02262409

C. Francastel, D. Schübeler, D. I. Martin, and M. Groudine, Nuclear compartmentalization and gene activity, Nature Reviews Molecular Cell Biology, vol.1, issue.2, pp.137-143, 2000.

J. M. Casolari, C. R. Brown, S. Komili, J. West, H. Hieronymus et al., Genome-Wide Localization of the Nuclear Transport Machinery Couples Transcriptional Status and Nuclear Organization, Cell, vol.117, issue.4, pp.427-439, 2004.

C. Neophytou, A. B. Vernallis, A. Smith, and M. C. Raff, Muller-cell-derived leukaemia inhibitory factor arrests rod photoreceptor differentiation at a postmitotic pre-rod stage of development, Development, vol.124, pp.2345-2354, 1997.

F. Cammas, M. Herzog, T. Lerouge, P. Chambon, and R. Losson, Association of the transcriptional corepressor TIF1 with heterochromatin protein 1 (HP1): an essential role for progression through differentiation, Genes & Development, vol.18, issue.17, pp.2147-2160, 2004.

S. Cai, H. J. Han, and T. Kohwi-shigematsu, Tissue-specific nuclear architecture and gene expession regulated by SATB1, Nature Genetics, vol.34, issue.1, pp.42-51, 2003.

K. Ishii, G. Arib, C. Lin, G. Van-houwe, and U. K. Laemmli, Chromatin Boundaries in Budding Yeast, Cell, vol.109, issue.5, pp.551-562, 2002.

P. Vinciguerra and F. Stutz, mRNA export: an assembly line from genes to nuclear pores, Current Opinion in Cell Biology, vol.16, issue.3, pp.285-292, 2004.

G. Wollensak, E. J. Perlman, and W. R. Green, Interphase fluorescence in situ hybridisation of the X and Y chromosomes in the human eye, British Journal of Ophthalmology, vol.85, issue.10, pp.1244-1247, 2001.

D. Bok, The retinal pigment epithelium: a versatile partner in vision, Journal of Cell Science, vol.1993, issue.Supplement 17, pp.189-195, 1993.