Science · 2005 · 946 citations · 22 references
MedicineGeneticsMolecular GeneticsMolecular NeuroscienceNeurogeneticsNeuropsychiatryNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersNeuropsychiatric GeneticsPsychiatric GeneticsTourette SyndromeBrain RegionsChromosomal Inversion PolymorphismFrameshift MutationsMicrorna PolymorphismsNeuropsychiatric Disorder MechanismsPsychiatric GenomicsRare De Novo Variant AnalysisTic Disorder Genetics
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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Katja Brose, K Bland, Kuan Hong Wang et al. · Cell · 1999 · 1.2K citations · Full text
New microRNAs from mouse and human
Mariana Lagos‐Quintana, Reinhard Rauhut, Jutta Meyer et al. · RNA · 2003 · 882 citations · Full text