Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

By C. Liquori, K. Ricker, M. Moseley, J. F. Jacobsen, W. Kress, S. Naylor, J. Day, L. Ranum. Science, 2001

1,235 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/6699b5aeacebd968eb195657eb30ef593985c799

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In Cardiology and Cardiovascular Medicine

T. Cooper

In Cellular and Molecular Neuroscience

In Molecular Biology

Citations in the corpus

Microsatellites within genes: structure, function, and evolution. (2004, background): “The human DM2 is caused by the expansion of a CCTG repeat in the first intron of the zinc finger protein 9 (ZNF9) gene (Liquori et al. 2001).”
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. (2002, background): “The splicing regulator, CUG binding profrom the HSALR transgene and the expanded ZNF9 alleletein (CUG-BP), which is elevated in DM1 striated musaccumulate in nuclear foci (Liquori et al., 2001; Mankodi cle, binds to the ClC-1 pre-mRNA, and overexpression et al., 2000).”
Pre-mRNA splicing and human disease. (2003, background): “DM type 2 (DM2) is caused by a large CCTG expansion in intron 1 of the ZNF9 gene on Chromosome 3q21 (Liquori et al. 2001).”
Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis (2011, positive): “This finding adds FTD/ALS to the growing class of noncoding repeat expansion disorders, which includes the myotonic dystrophies (DM1 and DM2) (Brook et al., 1992; Liquori et al., 2001; Mahadevan et al., 1992), fragile-X associated tremor/ataxia syndrome (FXTAS) (Galloway and Nelson, 2009; Tassone et”
Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. (2009, neutral): “Similar abnormalities have been observed in myotonic dystrophy type II (MD2), which is caused by accumulation of transcribed but untranslated CCTG expansion and consequent CUG repeat-containing RNA in ribonuclear inclusions (211, 212).”
A census of human RNA-binding proteins (2014, background): “, 1988) muscular/ cardiac disease CNBP, ZCCHC13 myotonic dystrophy RNA repeat expansion sequesters RBPs (Liquori et al., 2001)”
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “The list of neurological disorders that are caused by unstable repeats has increased to include not only trinucleotide repeats, but also tetranucleotid”
Non-ATG–initiated translation directed by microsatellite expansions (2010, background): “The polySer proteins might undergo beta elimination and addition from side chains of another polymer to create 3D-crosslinked polypeptides that would be extremely large (4).”
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions (2019, background): “This repeat is adjacent to polymorphic CA and CAGA repeats (Liquori et al. 2001) making it particularly difficult to accurately align reads to this locus.”
Variable tandem repeats accelerate evolution of coding and regulatory sequences. (2010, background): “Type 2 myotonic dystrophy (DM2) has also been reported to be caused by expansion of a TR in the intron of another gene, the zinc finger protein 9 (ZNF9) gene.”