Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism

BMC Bioinformatics

Methodology Article

Ruth C. Lovering¹  Paola Roncaglia²  Sejal Patel³ 

[1] Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, WC1E 6JF, London, UK;European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, CB10 1SD, Cambridge, UK;The Gene Ontology Consortium;Institute of Medical Science, University of Toronto, Medical Sciences Building, 1 King’s College Circle, M5S 1A8, Toronto, Canada;Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, 250 College Street, M5T 1R8, Toronto, Canada;Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, WC1E 6JF, London, UK;

关键词: Gene Ontology;    Autistic spectrum disorder;    Synaptogenesis;    Annotation;    Neurexin;    Neuroligin;    SHANK;    DLG4;    GO;   

DOI  :  10.1186/s12859-015-0622-0

 received in 2014-05-08, accepted in 2015-05-20,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundPeople with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders.ResultsIn this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database.ConclusionsThe manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets.

【 授权许可】

Unknown   
© Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.