X-Monosomy Effects on Visuospatial Attention in Mice: A Candidate Gene and Implications for Turner Syndrome and Attention Deficit Hyperactivity Disorder

  • William Davies
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, Babraham Research Campus, Babraham, United Kingdom
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  • Trevor Humby
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, Babraham Research Campus, Babraham, United Kingdom
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  • Anthony R. Isles
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, Babraham Research Campus, Babraham, United Kingdom

    Developmental Psychiatry Section, University of Cambridge, Cambridge, United Kingdom
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  • Paul S. Burgoyne
    Division of Stem Cell Biology and Developmental Genetics, National Institute for Medical Research, London, United Kingdom.
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  • Lawrence S. Wilkinson
    Address reprint requests to Lawrence S. Wilkinson, Ph.D., Behavioral Genetics Group, Departments of Psychology and Psychological Medicine, University of Cardiff, Cardiff CF10 3XQ, United Kingdom
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, Babraham Research Campus, Babraham, United Kingdom
    Search for articles by this author
Published:December 11, 2006DOI:


      The loss of all, or part of an X chromosome, in Turner syndrome (TS, 45,XO) results in deficits in attentional functioning.


      Using a 39,XO mouse model, we tested the hypothesis that X-monosomy and/or parental origin of the single X chromosome may influence visuospatial attentional functioning in a 5-choice serial reaction time task (5-CSRTT).


      Under attentionally demanding conditions 39,XO mice displayed impaired discriminative response accuracy and slowed correct reaction times relative to 40,XX mice; these deficits were alleviated in a version of the task with reduced attentional demands. Parental origin of the X did not affect performance of the 5-CSRTT. In contrast, the attentional phenotype was rescued in 40,XY*X mice possessing a single maternally inherited X chromosome and a small Y*X chromosome that comprises a complete pseudoautosomal region (PAR), and a small X-specific segment.


      Our findings are consistent with an X-monosomy effect on attention and suggest the existence of X-linked gene(s) that escape X-inactivation, are present on the small Y*X chromosome and impact on attentional functioning; the strongest candidate gene is Sts, encoding steroid sulfatase. The data inform the TS literature and indicate novel genetic mechanisms that may be of general significance to the neurobiology of attention.

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