Chromatin Remodeling in the Noncoding Repeat Expansion Diseases

被引：41

作者：

Kumari, Daman ^{[1
]}

Usdin, Karen ^{[1
]}

机构：

[1] NIDDK, Sect Gene Struct & Dis, Mol & Cellular Biol Lab, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 2009年 / 284卷 / 12期

关键词：

FRAGILE-X-SYNDROME; HISTONE DEACETYLASE INHIBITORS; FRIEDREICHS-ATAXIA; MYOTONIC-DYSTROPHY; TRINUCLEOTIDE REPEAT; EPIGENETIC CHANGES; TRIPLET REPEATS; FRATAXIN GENE; CTG REPEATS; FMR-1; GENE;

D O I：

10.1074/jbc.R800026200

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and FRA12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts. These repeats are transcribed but not translated. They are located in different parts of different genes and cause symptoms that range from ataxia and hypertrophic cardiomyopathy to muscle wasting, male infertility, and mental retardation, yet recent reports suggest that, despite these differences, the repeats may share a common property, namely the ability to initiate repeat-mediated epigenetic changes that result in heterochromatin formation.

引用

页码：7413 / 7417

页数：5

共 44 条

[1] The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [J].

Al-Mahdawi, Sahar ;

Pinto, Ricardo Mouro ;

Ismail, Ozama ;

Varshney, Dhaval ;

Lymperi, Stefania ;

Sandi, Chiranjeevi ;

Trabzuni, Daniah ;

Pook, Mark .

HUMAN MOLECULAR GENETICS, 2008, 17 (05) :735-746

[2] Fragile X-associated tremor/ataxia syndrome - An aging face of the fragile X gene [J].

Amiri, Khaled ;

Hagerman, Randi J. ;

Hagerman, Paul J. .

ARCHIVES OF NEUROLOGY, 2008, 65 (01) :19-25

[3] Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element [J].

Beilina, A ;

Tassone, F ;

Schwartz, PH ;

Sahota, P ;

Hagerman, PJ .

HUMAN MOLECULAR GENETICS, 2004, 13 (05) :543-549

[4] Histone deacetylase inhibitors as therapeutics for polyglutamine disorders [J].

Butler, Rachel ;

Bates, Gillian P. .

NATURE REVIEWS NEUROSCIENCE, 2006, 7 (10) :784-796

[5] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].

Campuzano, V ;

Montermini, L ;

Molto, MD ;

Pianese, L ;

Cossee, M ;

Cavalcanti, F ;

Monros, E ;

Rodius, F ;

Duclos, F ;

Monticelli, A ;

Zara, F ;

Canizares, J ;

Koutnikova, H ;

Bidichandani, SI ;

Gellera, C ;

Brice, A ;

Trouillas, P ;

DeMichele, G ;

Filla, A ;

DeFrutos, R ;

Palau, F ;

Patel, PI ;

DiDonato, S ;

Mandel, JL ;

Cocozza, S ;

Koenig, M ;

Pandolfo, M .

SCIENCE, 1996, 271 (5254) :1423-1427

[6] In vitro reactivation of the FMR1 gene involved in fragile X syndrome [J].

Chiurazzi, P ;

Pomponi, MG ;

Willemsen, R ;

Oostra, BA ;

Neri, G .

HUMAN MOLECULAR GENETICS, 1998, 7 (01) :109-113

[7] Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF [J].

Cho, DH ;

Thienes, CP ;

Mahoney, SE ;

Analau, E ;

Filippova, GN ;

Tapscott, SJ .

MOLECULAR CELL, 2005, 20 (03) :483-489

[8] Myotonic dystrophy: Emerging mechanisms for DM1 and DM2 [J].

Cho, Diane H. ;

Tapscott, Stephen J. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2007, 1772 (02) :195-204

[9] Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos [J].

Eiges, Rachel ;

Urbach, Achia ;

Malcov, Mira ;

Frumkin, Tsvia ;

Schwartz, Tamar ;

Amit, Ami ;

Yaron, Yuval ;

Eden, Amir ;

Yanuka, Ofra ;

Benvenisty, Nissim ;

Ben-Yosef, Dalit .

CELL STEM CELL, 2007, 1 (05) :568-577

[10] The growing catalog of small RNAs and their association with distinct Argonaute/Piwi family members [J].

Farazi, Thalia A. ;

Juranek, Stefan A. ;

Tuschl, Thomas .

DEVELOPMENT, 2008, 135 (07) :1201-1214

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