학술논문
Sequence variants in SLITRK1 are associated with tourette's syndrome
Document Type
Academic Journal
Author
Abelson, Jesse F.; Kwan, Kenneth Y.; O'Roak, Brian J.; Baek, Danielle Y.; Stillman, Althea A.; Morgan, Thomas M.; Mathews, Carol A.; Pauls, David L.; Rasin, Mladen-Roko; Gunel, Murat; Davis, Nicole R.; Ercan-Sencicek, A. Gulhan; Guez, Danielle H.; Spertus, John A.; Leckman, James F.; Dure, IV, Leon S.; Kurlan, Roger; Singer, Harvey S.; Gilbert, Donald L.; Farhi, Anita; Louvi, Angeliki; Lifton, Richard P.; Sestan, Nenad; State, Matthew W.
Source
Science. October 14, 2005, Vol. 310 Issue 5746, p317, 4 p.
Subject
Language
English
ISSN
0036-8075
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 frame-shift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.
TS is a potentially debilitating developmental neuropsychiatric disorder, characterized by the combination of persistent vocal and motor tics, that affects as many as 1 in 100 individuals (1, 2). A [...]
TS is a potentially debilitating developmental neuropsychiatric disorder, characterized by the combination of persistent vocal and motor tics, that affects as many as 1 in 100 individuals (1, 2). A [...]