Title |
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
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Published in |
BMC Medical Genomics, December 2007
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DOI | 10.1186/1471-2350-8-74 |
Pubmed ID | |
Authors |
Anne Philippi, Frédéric Tores, Jérome Carayol, Francis Rousseau, Mélanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Céline Vazart, Philippe Gesnouin, Peter Brooks, Jörg Hager |
Abstract |
Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current study, we hypothesized that 3 of the genes in this region could be involved in the development of autism: 1) paired-like homeodomain transcription factor 1 (PITX1), which is a key regulator of hormones within the pituitary-hypothalamic axis, 2) neurogenin 1, a transcription factor involved in neurogenesis, and 3) histone family member Y (H2AFY), which is involved in X-chromosome inactivation in females and could explain the 4:1 male:female gender distortion present in autism. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
China | 1 | 2% |
Unknown | 49 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 12 | 24% |
Researcher | 9 | 18% |
Other | 5 | 10% |
Student > Bachelor | 4 | 8% |
Student > Postgraduate | 4 | 8% |
Other | 9 | 18% |
Unknown | 8 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Psychology | 12 | 24% |
Agricultural and Biological Sciences | 11 | 22% |
Medicine and Dentistry | 7 | 14% |
Biochemistry, Genetics and Molecular Biology | 5 | 10% |
Nursing and Health Professions | 1 | 2% |
Other | 6 | 12% |
Unknown | 9 | 18% |