| Literature DB >> 16224024 |
Jesse F Abelson1, Kenneth Y Kwan, Brian J O'Roak, Danielle Y Baek, Althea A Stillman, Thomas M Morgan, Carol A Mathews, David L Pauls, Mladen-Roko Rasin, Murat Gunel, Nicole R Davis, A Gulhan Ercan-Sencicek, Danielle H Guez, John A Spertus, James F Leckman, Leon S Dure, Roger Kurlan, Harvey S Singer, Donald L Gilbert, Anita Farhi, Angeliki Louvi, Richard P Lifton, Nenad Sestan, Matthew W State.
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.Entities:
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Year: 2005 PMID： 16224024 DOI： 10.1126/science.1116502
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728