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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Christina L. Liquori,12Kenneth Ricker,4Melinda L. Moseley,12Jennifer
F. Jacobsen,12Wolfram Kress,5Susan L. Naylor,6John W. Day,13*Laura
P. W. Ranum12*
Myotonic dystrophy (DM), the most common form of muscular dystrophy
in adults, can be caused by a mutation on either chromosome19q13 (DM1)
or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansionin the 3'
untranslated region of the dystrophia myotonica-proteinkinase gene
(DMPK). Several mechanisms have been invoked to explainhow
this mutation, which does not alter the protein-coding portionof a
gene, causes the specific constellation of clinical featurescharacteristic of DM. We now report that DM2 is caused by a CCTGexpansion (mean ~5000 repeats) located in intron 1 of the zincfinger
protein 9 (ZNF9) gene. Parallels between these mutationsindicate that microsatellite expansions in RNA can be pathogenicand
cause the multisystemic features of DM1 and DM2.
1 Institute of Human Genetics;
2 Department of Genetics, Cell Biology, and
Development; and
3 Department of Neurology MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.
4 Department of Neurology and
5 Institute of Human Genetics, University of
Würzburg, Germany.
6 Department of Cellular
and Structural Biology, University of Texas Health Science Center at
San Antonio, San Antonio, TX 78284, USA.
*
To whom correspondence should be addressed. E-mail:
johnday{at}umn.edu (J.W.D.); ranum001{at}umn.edu
(L.P.W.R.).
Strong association between myotonic dystrophy type 2 and autoimmune diseases.
A A Tieleman, A A d. Broeder, A-E van de Logt, and B G M van Engelen (2009)
J. Neurol. Neurosurg. Psychiatry
80, 1293-1295
|Abstract »|Full Text »|PDF »
Insulin Receptor Isoforms and Insulin Receptor/Insulin-Like Growth Factor Receptor Hybrids in Physiology and Disease.
A. Belfiore, F. Frasca, G. Pandini, L. Sciacca, and R. Vigneri (2009)
Endocr. Rev.
30, 586-623
|Abstract »|Full Text »|PDF »
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1.
Y. Kino, C. Washizu, Y. Oma, H. Onishi, Y. Nezu, N. Sasagawa, N. Nukina, and S. Ishiura (2009)
Nucleic Acids Res.
37, 6477-6490
|Abstract »|Full Text »|PDF »
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice.
Z. Yu, A. M. Wang, D. M. Robins, and A. P. Lieberman (2009)
Dis. Model. Mech.
2, 500-507
|Abstract »|Full Text »|PDF »
Expression of RNA CCUG Repeats Dysregulates Translation and Degradation of Proteins in Myotonic Dystrophy 2 Patients.
E. Salisbury, B. Schoser, C. Schneider-Gold, G.-L. Wang, C. Huichalaf, B. Jin, M. Sirito, P. Sarkar, R. Krahe, N. A. Timchenko, et al. (2009)
Am. J. Pathol.
175, 748-762
|Abstract »|Full Text »|PDF »
Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA.
T. M. Wheeler, K. Sobczak, J. D. Lueck, R. J. Osborne, X. Lin, R. T. Dirksen, and C. A. Thornton (2009)
Science
325, 336-339
|Abstract »|Full Text »|PDF »
Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2.
C. Huichalaf, B. Schoser, C. Schneider-Gold, B. Jin, P. Sarkar, and L. Timchenko (2009)
J. Neurosci.
29, 9042-9049
|Abstract »|Full Text »|PDF »
A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG){middle dot}(CAGG) repeat.
S. F. Edwards, M. Sirito, R. Krahe, and R. R. Sinden (2009)
PNAS
106, 3270-3275
|Abstract »|Full Text »|PDF »
How much expansion to be diseased?: Toward repeat size and myotonic dystrophy type 2.
B. Schoser and T. Ashizawa (2009)
Neurology
72, 484-485
|Full Text »|PDF »
Premutation allele pool in myotonic dystrophy type 2.
L. L. Bachinski, T. Czernuszewicz, L. S. Ramagli, T. Suominen, M. D. Shriver, B. Udd, M. J. Siciliano, and R. Krahe (2009)
Neurology
72, 490-497
|Abstract »|Full Text »|PDF »
Muscleblind-Like Proteins: Similarities and Differences in Normal and Myotonic Dystrophy Muscle.
I. Holt, V. Jacquemin, M. Fardaei, C. A. Sewry, G. S. Butler-Browne, D. Furling, J. D. Brook, and G. E. Morris (2009)
Am. J. Pathol.
174, 216-227
|Abstract »|Full Text »|PDF »
Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes.
G.-F. Richard, A. Kerrest, and B. Dujon (2008)
Microbiol. Mol. Biol. Rev.
72, 686-727
|Abstract »|Full Text »|PDF »
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.
J. P. Orengo, P. Chambon, D. Metzger, D. R. Mosier, G. J. Snipes, and T. A. Cooper (2008)
PNAS
105, 2646-2651
|Abstract »|Full Text »|PDF »
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T.
Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.
K. P. Smith, M. Byron, C. Johnson, Y. Xing, and J. B. Lawrence (2007)
J. Cell Biol.
178, 951-964
|Abstract »|Full Text »|PDF »
Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles.
I. Holt, S. Mittal, D. Furling, G. S Butler-Browne, J. D. Brook, and G. E. Morris (2007)
Genes Cells
12, 1035-1048
|Abstract »|Full Text »|PDF »
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs.
Y. Yuan, S. A. Compton, K. Sobczak, M. G. Stenberg, C. A. Thornton, J. D. Griffith, and M. S. Swanson (2007)
Nucleic Acids Res.
|Abstract »|Full Text »|PDF »
Familial Turner Mosaicism 46XX/45XO With Brain Calcification.
T. Maeda, M. Sugano, J.-Z. Guan, J.-i. Oyama, Y. Higuchi, N. Makino, M. Hatakenaka, H. Muta, M. Nakayama, Y. Nakazaki, et al. (2007)
J Neuropsychiatry Clin Neurosci
19, 342-343
|Full Text »|PDF »
Noncoding RNAs and RNA Editing in Brain Development, Functional Diversification, and Neurological Disease.
Non-B DNA Conformations Formed by Long Repeating Tracts of Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 2, and Friedreich's Ataxia Genes, Not the Sequences per se, Promote Mutagenesis in Flanking Regions.
M. Wojciechowska, M. Napierala, J. E. Larson, and R. D. Wells (2006)
J. Biol. Chem.
281, 24531-24543
|Abstract »|Full Text »|PDF »
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.
M. Wakamiya, T. Matsuura, Y. Liu, G. C. Schuster, R. Gao, W. Xu, P. S. Sarkar, X. Lin, and T. Ashizawa (2006)
Neurology
67, 607-613
|Abstract »|Full Text »|PDF »
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.
R. N. Kanadia, J. Shin, Y. Yuan, S. G. Beattie, T. M. Wheeler, C. A. Thornton, and M. S. Swanson (2006)
PNAS
103, 11748-11753
|Abstract »|Full Text »|PDF »
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.
X. Lin, J. W. Miller, A. Mankodi, R. N. Kanadia, Y. Yuan, R. T. Moxley, M. S. Swanson, and C. A. Thornton (2006)
Hum. Mol. Genet.
15, 2087-2097
|Abstract »|Full Text »|PDF »
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.
M. de Haro, I. Al-Ramahi, B. De Gouyon, L. Ukani, A. Rosa, N. A. Faustino, T. Ashizawa, T. A. Cooper, and J. Botas (2006)
Hum. Mol. Genet.
15, 2138-2145
|Abstract »|Full Text »|PDF »
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.
J. M. Margolis, B. G. Schoser, M. L. Moseley, J. W. Day, and L. P.W. Ranum (2006)
Hum. Mol. Genet.
15, 1808-1815
|Abstract »|Full Text »|PDF »
Molecular pathogenesis of spinocerebellar ataxias.
The Muscular Dystrophies: From Genes to Therapies.
R. M Lovering, N. C Porter, and R. J Bloch (2005)
Physical Therapy
85, 1372-1388
|Abstract »|Full Text »|PDF »
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats.
B. H. M. Mooers, J. S. Logue, and J. A. Berglund (2005)
PNAS
102, 16626-16631
|Abstract »|Full Text »|PDF »
Increased Negative Superhelical Density in Vivo Enhances the Genetic Instability of Triplet Repeat Sequences.
M. Napierala, A. Bacolla, and R. D. Wells (2005)
J. Biol. Chem.
280, 37366-37376
|Abstract »|Full Text »|PDF »
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
T. Kimura, M. Nakamori, J. D. Lueck, P. Pouliquin, F. Aoike, H. Fujimura, R. T. Dirksen, M. P. Takahashi, A. F. Dulhunty, and S. Sakoda (2005)
Hum. Mol. Genet.
14, 2189-2200
|Abstract »|Full Text »|PDF »
Length-dependent energetics of (CTG)n and (CAG)n trinucleotide repeats.
S. Amrane, B. Sacca, M. Mills, M. Chauhan, H. H. Klump, and J.-L. Mergny (2005)
Nucleic Acids Res.
33, 4065-4077
|Abstract »|Full Text »|PDF »
Advances in mechanisms of genetic instability related to hereditary neurological diseases.
R. D. Wells, R. Dere, M. L. Hebert, M. Napierala, and L. S. Son (2005)
Nucleic Acids Res.
33, 3785-3798
|Abstract »|Full Text »|PDF »
Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy.
T. H. Ho, R. S. Savkur, M. G. Poulos, M. A. Mancini, M. S. Swanson, and T. A. Cooper (2005)
J. Cell Sci.
118, 2923-2933
|Abstract »|Full Text »|PDF »
T. H. Ho, D. Bundman, D. L. Armstrong, and T. A. Cooper (2005)
Hum. Mol. Genet.
14, 1539-1547
|Abstract »|Full Text »|PDF »
The pathogenic agent in Drosophila models of 'polyglutamine' diseases.
C. J. McLeod, L. V. O'Keefe, and R. I. Richards (2005)
Hum. Mol. Genet.
14, 1041-1048
|Abstract »|Full Text »|PDF »
Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.
J. M. Houseley, Z. Wang, G. J. R. Brock, J. Soloway, R. Artero, M. Perez-Alonso, K. M. C. O'Dell, and D. G. Monckton (2005)
Hum. Mol. Genet.
14, 873-883
|Abstract »|Full Text »|PDF »
Identification of Putative New Splicing Targets for ETR-3 Using Sequences Identified by Systematic Evolution of Ligands by Exponential Enrichment.
Identification of Gastric Cancer-Related Genes Using a cDNA Microarray Containing Novel Expressed Sequence Tags Expressed in Gastric Cancer Cells.
J.-M. Kim, H.-Y. Sohn, S. Y. Yoon, J.-H. Oh, J. O. Yang, J. H. Kim, K. S. Song, S.-M. Rho, H. S. Yoo, Y. S. Kim, et al. (2005)
Clin. Cancer Res.
11, 473-482
|Abstract »|Full Text »|PDF »
Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.
J. Berg, H. Jiang, C. A. Thornton, and S. C. Cannon (2004)
Neurology
63, 2371-2375
|Abstract »|Full Text »|PDF »
Sudden cardiac death in myotonic dystrophy type 2.
B. G.H. Schoser, K. Ricker, C. Schneider-Gold, C. Hengstenberg, J. Durre, B. Bultmann, W. Kress, J. W. Day, and L. P.W. Ranum (2004)
Neurology
63, 2402-2404
|Abstract »|Full Text »|PDF »
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
H. Jiang, A. Mankodi, M. S. Swanson, R. T. Moxley, and C. A. Thornton (2004)
Hum. Mol. Genet.
13, 3079-3088
|Abstract »|Full Text »|PDF »
Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2.
A. George, C. Schneider-Gold, S. Zier, K. Reiners, and C. Sommer (2004)
Arch Neurol
61, 1938-1942
|Abstract »|Full Text »|PDF »
Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1.
A. Modoni, G. Silvestri, M. Grazia Pomponi, F. Mangiola, P. A. Tonali, and C. Marra (2004)
Arch Neurol
61, 1943-1947
|Abstract »|Full Text »|PDF »
Correlating phenotype and genotype in the periodic paralyses.
T. M. Miller, M. R. Dias da Silva, H. A. Miller, H. Kwiecinski, J. R. Mendell, R. Tawil, P. McManis, R. C. Griggs, C. Angelini, S. Servidei, et al. (2004)
Neurology
63, 1647-1655
|Abstract »|Full Text »|PDF »
Trinucleotide repeats and neurodegenerative disease.
Hairpin Structure-forming Propensity of the (CCTG{middle dot}CAGG) Tetranucleotide Repeats Contributes to the Genetic Instability Associated with Myotonic Dystrophy Type 2.
R. Dere, M. Napierala, L. P. W. Ranum, and R. D. Wells (2004)
J. Biol. Chem.
279, 41715-41726
|Abstract »|Full Text »|PDF »
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
I. L. Ber, M. Martinez, D. Campion, A. Laquerriere, C. Betard, G. Bassez, C. Girard, P. Saugier-Veber, G. Raux, N. Sergeant, et al. (2004)
Brain
127, 1979-1992
|Abstract »|Full Text »|PDF »
Homozygosity for CCTG mutation in myotonic dystrophy type 2.
B. G. H. Schoser, W. Kress, M. C. Walter, B. Halliger-Keller, H. Lochmuller, and K. Ricker (2004)
Brain
127, 1868-1877
|Abstract »|Full Text »|PDF »
Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events.
Microsatellites Within Genes: Structure, Function, and Evolution.
Y.-C. Li, A. B. Korol, T. Fahima, and E. Nevo (2004)
Mol. Biol. Evol.
21, 991-1007
|Abstract »|Full Text »|PDF »
Chemically induced increases and decreases in the rate of expansion of a CAG{middle dot}CTG triplet repeat.
M. Gomes-Pereira and D. G. Monckton (2004)
Nucleic Acids Res.
32, 2865-2872
|Abstract »|Full Text »|PDF »
CELF6, a Member of the CELF Family of RNA-binding Proteins, Regulates Muscle-specific Splicing Enhancer-dependent Alternative Splicing.
A. N. Ladd, N. H. Nguyen, K. Malhotra, and T. A. Cooper (2004)
J. Biol. Chem.
279, 17756-17764
|Abstract »|Full Text »|PDF »
Congenital Myotonic Dystrophy: Assisted Ventilation Duration and Outcome.
C. Campbell, R. Sherlock, P. Jacob, and M. Blayney (2004)
Pediatrics
113, 811-816
|Abstract »|Full Text »|PDF »
Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR.
C. J. Storbeck, S. Drmanic, K. Daniel, J. D. Waring, F. R. Jirik, D. J. Parry, N. Ahmed, L. A. Sabourin, J.-E Ikeda, and R. G. Korneluk (2004)
Hum. Mol. Genet.
13, 589-600
|Abstract »|Full Text »|PDF »
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.
Y. Kino, D. Mori, Y. Oma, Y. Takeshita, N. Sasagawa, and S. Ishiura (2004)
Hum. Mol. Genet.
13, 495-507
|Abstract »|Full Text »|PDF »
An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.
P J Lamont, R L Jacob, F L Mastaglia, and N G Laing (2004)
J. Neurol. Neurosurg. Psychiatry
75, 343
|Full Text »
Effects of sequence on repeat expansion during DNA replication.
B. L. Heidenfelder and M. D. Topal (2003)
Nucleic Acids Res.
31, 7159-7164
|Abstract »|Full Text »|PDF »
A Muscleblind Knockout Model for Myotonic Dystrophy.
R. N. Kanadia, K. A. Johnstone, A. Mankodi, C. Lungu, C. A. Thornton, D. Esson, A. M. Timmers, W. W. Hauswirth, and M. S. Swanson (2003)
Science
302, 1978-1980
|Abstract »|Full Text »|PDF »
A Proteomic Analysis of Arginine-methylated Protein Complexes.
F.-M. Boisvert, J. Cote, M.-C. Boulanger, and S. Richard (2003)
Mol. Cell. Proteomics
2, 1319-1330
|Abstract »|Full Text »|PDF »
Structures of trinucleotide repeats in human transcripts and their functional implications.
A. Jasinska, G. Michlewski, M. de Mezer, K. Sobczak, P. Kozlowski, M. Napierala, and W. J. Krzyzosiak (2003)
Nucleic Acids Res.
31, 5463-5468
|Abstract »|Full Text »|PDF »
RNA structure of trinucleotide repeats associated with human neurological diseases.
K. Sobczak, M. de Mezer, G. Michlewski, J. Krol, and W. J. Krzyzosiak (2003)
Nucleic Acids Res.
31, 5469-5482
|Abstract »|Full Text »|PDF »
A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.
R Horvath, H Lochmuller, C Scharfe, B H Do, P J Oefner, J Muller-Hocker, B G Schoser, D Pongratz, D P Auer, and M Jaksch (2003)
J. Med. Genet.
40, 752-757
|Full Text »|PDF »
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.
A. Vihola, G. Bassez, G. Meola, S. Zhang, H. Haapasalo, A. Paetau, E. Mancinelli, A. Rouche, J.Y. Hogrel, P. Laforet, et al. (2003)
Neurology
60, 1854-1857
|Abstract »|Full Text »|PDF »
Gene Expression Profile of the Human Trabecular Meshwork: NEIBank Sequence Tag Analysis.
S. I. Tomarev, G. Wistow, V. Raymond, S. Dubois, and I. Malyukova (2003)
Invest. Ophthalmol. Vis. Sci.
44, 2588-2596
|Abstract »|Full Text »|PDF »
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
R. Willemsen, M. Hoogeveen-Westerveld, S. Reis, J. Holstege, L.-A. W.F.M. Severijnen, I. M. Nieuwenhuizen, M. Schrier, L. van Unen, F. Tassone, A. T. Hoogeveen, et al. (2003)
Hum. Mol. Genet.
12, 949-959
|Abstract »|Full Text »|PDF »
A Role for Myotonic Dystrophy Protein Kinase in Synaptic Plasticity.
P. E. Schulz, A. D. McIntosh, M. R. Kasten, B. Wieringa, and H. F. Epstein (2003)
J Neurophysiol
89, 1177-1186
|Abstract »|Full Text »|PDF »
Changes in Myotonic Dystrophy Protein Kinase Levels and Muscle Development in Congenital Myotonic Dystrophy.
D. Furling, L. T. Lam, O. Agbulut, G. S. Butler-Browne, and G. E. Morris (2003)
Am. J. Pathol.
162, 1001-1009
|Abstract »|Full Text »|PDF »
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum.
J. W. Day, K. Ricker, J. F. Jacobsen, L. J. Rasmussen, K. A. Dick, W. Kress, C. Schneider, M. C. Koch, G. J. Beilman, A. R. Harrison, et al. (2003)
Neurology
60, 657-664
|Abstract »|Full Text »|PDF »
Pre-mRNA splicing and human disease.
N. A. Faustino and T. A. Cooper (2003)
Genes & Dev.
17, 419-437
|Full Text »|PDF »
J. D. Amack, S. R. Reagan, and M. S. Mahadevan (2002)
J. Cell Biol.
159, 419-429
|Abstract »|Full Text »|PDF »
Long CTG{middle dot}CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination.
A. Pluciennik, R. R. Iyer, M. Napierala, J. E. Larson, M. Filutowicz, and R. D. Wells (2002)
J. Biol. Chem.
277, 34074-34086
|Abstract »|Full Text »|PDF »
Untranslated Element in Neurofilament mRNA Has Neuropathic Effect on Motor Neurons of Transgenic Mice.
Z. Nie, J. Wu, J. Zhai, H. Lin, W. Ge, W. W. Schlaepfer, and R. Canete-Soler (2002)
J. Neurosci.
22, 7662-7670
|Abstract »|Full Text »|PDF »
Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast.
E. Fabre, B. Dujon, and G.-F. Richard (2002)
Nucleic Acids Res.
30, 3540-3547
|Abstract »|Full Text »|PDF »
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.
C. M. Greco, R. J. Hagerman, F. Tassone, A. E. Chudley, M. R. Del Bigio, S. Jacquemont, M. Leehey, and P. J. Hagerman (2002)
Brain
125, 1760-1771
|Abstract »|Full Text »|PDF »
Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1.
S. Sato, M. Nakamura, D. H. Cho, S. J. Tapscott, H. Ozaki, and K. Kawakami (2002)
Hum. Mol. Genet.
11, 1045-1058
|Abstract »|Full Text »|PDF »
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.
M. Fardaei, M. T. Rogers, H. M. Thorpe, K. Larkin, M. G. Hamshere, P. S. Harper, and J. D. Brook (2002)
Hum. Mol. Genet.
11, 805-814
|Abstract »|Full Text »|PDF »
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.
W. J. A. A. van den Broek, M. R. Nelen, D. G. Wansink, M. M. Coerwinkel, H. te Riele, P. J. T. A. Groenen, and B. Wieringa (2002)
Hum. Mol. Genet.
11, 191-198
|Abstract »|Full Text »|PDF »
Molecular Characterization of the Mouse In(10)17Rk Inversion and Identification of a Novel Muscle-Specific Gene at the Proximal Breakpoint.
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
H. Seznec, O. Agbulut, N. Sergeant, C. Savouret, A. Ghestem, N. Tabti, J.-C. Willer, L. Ourth, C. Duros, E. Brisson, et al. (2001)
Hum. Mol. Genet.
10, 2717-2726
|Abstract »|Full Text »|PDF »
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.
A. Mankodi, C. R. Urbinati, Q.-P. Yuan, R. T Moxley, V. Sansone, M. Krym, D. Henderson, M. Schalling, M. S. Swanson, and C. A. Thornton (2001)
Hum. Mol. Genet.
10, 2165-2170
|Abstract »|Full Text »|PDF »
