a common variant associated with dyslexia reduces expression of the kiaa0319 gene常见的变体与阅读障碍减少了kiaa0319基因的表达有关.pdfVIP

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a common variant associated with dyslexia reduces expression of the kiaa0319 gene常见的变体与阅读障碍减少了kiaa0319基因的表达有关.pdf

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a common variant associated with dyslexia reduces expression of the kiaa0319 gene常见的变体与阅读障碍减少了kiaa0319基因的表达有关

A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene 1,2 1 1 3 1 Megan Y. Dennis , Silvia Paracchini , Thomas S. Scerri , Ludmila Prokunina-Olsson , Julian C. Knight , 4 5 6 2 1 Richard Wade-Martins , Penny Coggill , Stephan Beck , Eric D. Green *, Anthony P. Monaco * 1 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, 2 Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 3 Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Gaithersburg, Maryland, United States of America, 4 Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom, 5 Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge, United Kingdom, 6 UCL Cancer Institute, University College London, London, United Kingdom Abstract Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a dyslexia- associated haplotype has been implicated in the reduced expression of KIAA0319, and (2) the strongest association has been found for the region spanning exon 1 of KIAA0319. Here, we test the hypothesis that variant(s) responsible for reduced KIAA0319 expression resides on the risk haplotype close to the gene’s transcription sta