Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abstract
Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 ( SLITRK1 ) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.
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Regional coexpression of miRNAs and their targets has been reported.
“Regional coexpression of miRNAs and their targets has been reported.”
From MicroRNA expression in the adult mouse central nervous system (2008) · cites this paper as Abelson et al. 2005
A mutation in the target site of miR-189 in the human SLITRK1 gene is associated with Tourette's syndrome.
“For example, a mutation in the target site of miR-189 in the human SLITRK1 gene has been shown to be associated with Tourette's syndrome (Abelson et al. 2005)”
From MicroRNA expression in the adult mouse central nervous system (2008) · cites this paper as Abelson et al. 2005
In our dataset, several genes carrying HHMCs and associated with basal ganglia functions stand out, like SLITRK1 and NOVA1.
“in our dataset, several genes carrying HHMCs and associated with basal ganglia functions (critical for language and cognition) stand out, like SLITRK1114 and NOVA136,115–118 (Supplementary Information 4).”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [114]
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- Authors
- Abelson, J. F., Kwan, K. Y., O'Roak, B. J., Baek, D. Y., Stillman, A. A., Morgan, T. M., Mathews, C. A., Pauls, D. L., Rašin, M.-R., Gunel, M., Davis, N. R., Ercan-Sencicek, A. G., Guez, D. H., Spertus, J. A., Leckman, J. F., Dure, L. S., Kurlan, R., Singer, H. S., Gilbert, D. L., Farhi, A., Louvi, A., Lifton, R. P., Šestan, N., & State, M. W.
- Affiliations
- Yale University (US)
- Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
- Harvard University (US)
- University of Alabama at Birmingham (US)
- University of Rochester Medicine (US)
- Johns Hopkins University (US)
- Cincinnati Children's Hospital Medical Center (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Abelson, Jesse F.
- Kwan, Kenneth Y.
- State, Matthew W.
- ORCID
- Venue
- Science
- Published
- 2005-10-14
- Volume
- 310
- Issue
- 5746
- Pages
- 317-320
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2114409847
- Cited by
- 940
- References
- 26
- Citations by year
- 2026: 11 · 2025: 12 · 2024: 15 · 2023: 14 · 2022: 26 · 2021: 16 · 2020: 21 · 2019: 24 · 2018: 13 · 2017: 36 · 2016: 35 · 2015: 55 · 2014: 55 · 2013: 66 · 2012: 69
- FWCI
- 90.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS054273, R01NS043520, R01 NS43520)
- National Center for Research Resources (K23RR016118, K23 RR16118)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Tourette syndrome, SLITRK1, genetic variants, frameshift mutation, microRNA binding sites, dendritic growth, neuronal development, candidate genes
- MeSH terms
- Adolescent, Animals, Attention Deficit Disorder with Hyperactivity, Brain, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 13, DNA, DNA Mutational Analysis, Female, Tourette Syndrome, Humans, Chromosome Inversion, Male, Membrane Proteins, Mutation, Nerve Tissue Proteins, Pedigree, Frameshift Mutation, In Situ Hybridization, Fluorescence, Sequence Analysis, DNA, 3' Untranslated Regions, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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