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Abelson JF, Kwan KY, O'roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science . 2005 Oct 14 ; 310(5746):317-20. PubMed Abstract

Comments on Paper and Primary News
Comment by:  Tom Insel
Submitted 17 October 2005 Posted 17 October 2005
  I recommend this paper

This is an important paper for at least two reasons. First, it demonstrates yet again the power of finding a rare, real genetic lesion. The inversion on 13q31.1 in a single case was the smoking gun in this story that led to the search for SLITRK1 variations in a pedigree. The second reason this paper should be studied by scientists searching for genes for mental illness is that the pathology involves a non-coding mutation. This is the first report of a mutation that affects a site for microRNA binding. First studied in C. elegans and more recently in mammals, microRNAs are endogenous 22 mer transcripts that either cause translational arrest or cleavage of mRNA transcripts. They target a region in the 3'UTR, in this case in the region just down from the coding sequence of SLITRK1. A frameshift mutation in this region would alter regulation by microRNA-189. Now the search can be launched to find the developmental link between microRNA-189 effects and the neural circuitry for the Tourette-ADHD phenotype.

Bartel DP and Chen CZ, Micromanagers of gene expression. Nat Rev Genetics 5:396, 2004. Abstract

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Comments on Related News
Related News: Multitasking Rett Protein Shines Spotlight on RNA Splicing in Neurologic and Psychiatric Disease

Comment by:  Mary Reid
Submitted 6 February 2006 Posted 8 February 2006

Gabrielle Strobel mentions that DLX5 has been suggested as an MECP2 target. Horike and colleagues report that "transcription of DLX5 and DLX 6 was reproducibly approximately two times higher in Mecp2-null mice" (Holrike et al., 2005). In view of the fact that DLX5 is necessary for osteoblastogenesis and osteoclastogenesis, might we suspect that its increased expression may explain the bone pathology reported in Rett syndrome? Does this resemble Paget disease and if so, might we expect that biphosphonates may be beneficial in Rett syndrome?

Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet. 2005 Jan;37(1):31-40. Epub 2004 Dec 19. Abstract

View all comments by Mary Reid

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