Open Access Highly Accessed Research article

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

Simon G Gregory1*, Jessica J Connelly1, Aaron J Towers1, Jessica Johnson1, Dhani Biscocho1, Christina A Markunas1, Carla Lintas23, Ruth K Abramson4, Harry H Wright4, Peter Ellis5, Cordelia F Langford5, Gordon Worley6, G Robert Delong6, Susan K Murphy7, Michael L Cuccaro8, Antonello Persico23 and Margaret A Pericak-Vance8

Author Affiliations

1 Duke Center for Human Genetics, DUMC, Durham, NC, USA

2 Laboratory of Molecular Psychiatry & Neurogenetics, University Campus Bio-Medico, Rome, Italy

3 IRCCS 'Fondazione Santa Lucia', Rome, Italy

4 Department of Neuropsychiatry, SOM-USC, Columbia, SC, USA

5 Wellcome Trust Sanger Institute, Hinxton, UK

6 Duke Department of Medicine, DUMC, Durham, NC, USA

7 Departments of Obstetrics and Gynecology, and Pathology, Duke University, Durham, NC, USA

8 John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA

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BMC Medicine 2009, 7:62  doi:10.1186/1741-7015-7-62

Published: 22 October 2009

Additional files

Additional file 1:

Cloned bisulfite sequencing results for each peripheral blood mononuclear cell (PBMC) sample.

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Additional file 2:

Primer pairs used for this study.

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Additional file 3:

Genomic duplication and deletion events within 54 control and 119 autistic individuals identified by whole genome tilepath array comparative genomic hybridization (CGH).

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Additional file 4:

OXTR promoter CpG methylation status in peripheral blood mononuclear cells (PBMCs) of 10 autistic females and 10 age-matched controls.

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Additional file 5:

OXTR promoter CpG methylation status in the cortex of eight autism cases and controls matched for age and sex.

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