Rôle d’une désorganisation de la chromatine dans la neurodégénérescence due à une expansion de polyglutamine dans l’ataxine-7

Dominique Helmlinger; Làszlò Tora; Didier Devys

doi:doi:10.1051/medsci/20062289700

Accès gratuit

Numéro		Med Sci (Paris) Volume 22, Numéro 8-9, Août–Septembre 2006


Page(s)		700 - 702
Section		Nouvelles
DOI		http://dx.doi.org/10.1051/medsci/20062289700
Publié en ligne		15 August 2006

Cummings CJ, Zoghbi HY. Trinucleotide repeats : mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000; 1 : 281–328.
Lebre A, Brice A. Maladies par expansion de polyglutamine. Données moléculaires et physiopathologiques. Med Sci (Paris) 2001; 17 : 1149–57.
Helmlinger D, Hardy S, Sasorith S, et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 2004; 13 : 1257–65.
McMahon SJ, Pray-Grant MG, Schieltz D, et al. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci USA 2005; 102 : 8478–82.
Palhan VB, Chen S, Peng GH, et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci USA 2005; 102 : 8472–7.
Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004; 12 : 2–15.
Helmlinger D, Abou-Sleymane G, Yvert G, et al. Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. J Neurosci 2004; 24 : 1881–7.
La Spada AR, Fu YH, Sopher BL, et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 2001; 31 : 913–27.
Yoo SY, Pennesi ME, Weeber EJ, 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 2003; 37 : 383–401.
Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet 2003; 19 : 233–8.
Helmlinger D, Hardy S, Abou-Sleymane G, et al. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol 2006; 4 : e67.
Jenuwein T, Allis CD. Translating the histone code. Science 2001; 293 : 1074–80.

[1] Cummings CJ, Zoghbi HY. Trinucleotide repeats : mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000; 1 : 281–328.

[2] Lebre A, Brice A. Maladies par expansion de polyglutamine. Données moléculaires et physiopathologiques. Med Sci (Paris) 2001; 17 : 1149–57.

[3] Helmlinger D, Hardy S, Sasorith S, et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 2004; 13 : 1257–65.

[4] McMahon SJ, Pray-Grant MG, Schieltz D, et al. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci USA 2005; 102 : 8478–82.

[5] Palhan VB, Chen S, Peng GH, et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci USA 2005; 102 : 8472–7.

[6] Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004; 12 : 2–15.

[7] Helmlinger D, Abou-Sleymane G, Yvert G, et al. Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. J Neurosci 2004; 24 : 1881–7.

[8] La Spada AR, Fu YH, Sopher BL, et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 2001; 31 : 913–27.

[9] Yoo SY, Pennesi ME, Weeber EJ, 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 2003; 37 : 383–401.

[10] Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet 2003; 19 : 233–8.

[11] Helmlinger D, Hardy S, Abou-Sleymane G, et al. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol 2006; 4 : e67.

[12] Jenuwein T, Allis CD. Translating the histone code. Science 2001; 293 : 1074–80.

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