Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

By Jesse F. Abelson, Kenneth Y. Kwan, Brian J. O'Roak, Danielle Y. Baek, Althea A. Stillman, T. Morgan, C. Mathews, D. Pauls, Mladen-Roko Rasin, M. Gunel and 14 more. Science, 2005

972 citations recorded by the source corpus.

Subfields: Cell Biology, Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2940ab198836df400f733b4c098aee8b1964a85e

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In Cell Biology

In Cellular and Molecular Neuroscience

John S. Mattick

In Molecular Biology

Citations in the corpus

Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liver (2007, neutral): “For example, a mutation in the target site of miR-189 in the human SLITRK1 gene was shown to be associated with Tourette’s syndrome (7), while other recent studies have implicated miRNAs in controlling HIV replication (8) and in coronary artery disease (9).”
microRNAs as oncogenes and tumor suppressors. (2007, background): “, 2005), disease (Abelson et al., 2005; Alvarez-Garcia and Miska, 2005), and cancer (Meltzer, 2005; Volinia et al.”
MicroRNAs in stress signaling and human disease (2012, background): “This mechanism was first translated to human populations through analysis of Tourette’s syndrome where a mutation in the 30 UTR of the SLITRK1 gene that creates a binding site for miR-189 was reported to be associated with the disease (Abelson et al., 2005).”
A SNP in a let-7 microRNA complementary site in the KRAS 3′UTR Increases Non-Small Cell Lung Cancer Risk (2008, background): “There is also evidence that SNPs in miRNA binding sites could be associated with disease, for example, a point mutation identified in several Tourette’s syndrome patients in the 3¶UTR of SLITRK1 disrupts the binding of miR-189 (8).”
Non-coding RNA. (2006, background): “Sequence variants in the binding site for the miRNA miR-189 in the SLITRK1 mRNA have recently been shown to be associated with Tourette’s syndrome (148).”
The evolution of gene regulation by transcription factors and microRNAs (2007, background): “Examples of functional polymorphism have also been identified recently in miRNA binding sites in human”
Identification of miRNA Changes in Alzheimer's Disease Brain and CSF Yields Putative Biomarkers and Insights into Disease Pathways (2008, positive): “Currently, the few examples of direct links between miRNAs and human diseases of the brain include the intriguing finding of a single nucleotide polymorphism in a family with Tourette’s syndrome that increases the binding affinity of miR189 to the 3’ UTR of SLITRK1 [1] and the downregulated expressi”
microRNA as Biomarkers and Diagnostics (2016, background): “…abnormal brain development and the pathogenesis of several neurodevelopmental diseases (Mehler and Mattick, 2007), including Tourette’s syndrome (Abelson et al., 2005), Alzheimer’s disease, Parkinson’s disease (Wang et al., 2008; Margis et al., 2011; Qiu et al., 2014; Femminella et al., 2015),…”
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep (2006, background): “That polymorphic miRNA-target interactions may contribute to disease is illustrated by the recent identification of a SNP associated with Tourette syndrome that affects the interaction between miR-189 and the 3′ UTR of SLITRK1 (ref”
MicroRNA signatures in human cancers (2006, background): “or individuals with a predisposition to other hereditary disease”
Genetic variation in microRNA networks: the implications for cancer research (2010, positive): “The initial demonstration that miRNA-related SNPs can affect phenotype was elegantly depicted by Abelson et al”
Non‐coding RNAs: regulators of disease (2010, background): “As examples, SNP-induced illegitimate miRNA binding sites are associated with muscular hypertrophy in sheep, Tourette’s syndrome and cardiovascular disease [171–173].”
The Genetic Signatures of Noncoding RNAs (2009, background): “As noted above, regulatory mutations have been identified in the 39 UTRs of mRNAs, such as those underlying Tourette’s syndrome [115] and muscular hypertrophy in sheep [116], which appear to involve gain- or loss-of-function of miRNA binding sites.”
MicroRNAs in development and disease. (2011, background): “Noteworthy, a G-to-A nucleotide variant (var321) was specifically found in 2 of 174 unrelated patients with Tourette’s syndrome, in the binding site of miR-189 within the 3=-UTR of Slit and Trk-like (Slitrk1) (1, 460).”