title: Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism.
abstract: BACKGROUND
  People 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.
  
  
  RESULTS
  In 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.
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: Institute of Medical Science, University of Toronto, Medical Sciences Building, 1 King's College Circle, Toronto, M5S 1A8, Canada. sejalr.patel@mail.utoronto.ca.|Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, 250 College Street, Toronto, M5T 1R8, Canada. sejalr.patel@mail.utoronto.ca.|Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, London, WC1E 6JF, UK. sejalr.patel@mail.utoronto.ca.
authors.forename: Sejal
authors.initials: S
authors.lastname: Patel
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. paola@ebi.ac.uk.|The Gene Ontology Consortium, . paola@ebi.ac.uk.
authors.forename: Paola
authors.initials: P
authors.lastname: Roncaglia
authors.affiliation: Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, London, WC1E 6JF, UK. r.lovering@ucl.ac.uk.
authors.forename: Ruth C
authors.initials: RC
authors.lastname: Lovering
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics / Q000378:metabolism* / Q000523:psychology; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics / Q000378:metabolism*; D002468:Cell Physiological Phenomena; D063990:Gene Ontology; D016678:Genome; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008564:Membrane Potentials / Q000502:physiology; D051379:Mice; D008958:Models, Molecular; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D019006:Neural Cell Adhesion Molecules; D010641:Phenotype; D051381:Rats; D012919:Social Behavior; D013569:Synapses / Q000502:physiology; D055366:Synaptic Potentials
chemical_list: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; C122162:SHANK2 protein, human; C093438:neuroligin 1