Abstract
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.Electronic supplementary materialThe online version of this article (doi:10.1186/s12859-015-0622-0) contains supplementary material, which is available to authorized users.
Highlights
People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior
We have focused on the manual annotation of the neurexin, neuroligin and SHANK protein families, as the interaction between the neurexin and neuroligin cell adhesion molecules is one of the processes that has been implicated in the development of ASD [18]
Gene Ontology (GO) annotation of the neurexin, neuroligin, SHANK and DLG4 protein families There are several thousand publications describing the mammalian members of the NRXN, NLGN, SHANK and DLG4 protein families
Summary
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. Autistic spectrum disorder (ASD) is a complex neurodevelopmental condition known to be associated with a combination of genetic [8] and environmental factors [9]. Patients with ASD (as classified by the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, DSM-5) [11] exhibit a variety of behavioral deficits, such as social interaction and communication difficulties and restrictive and repetitive behavior [12]. Repetitive stereotype behaviors are usually detailed and structure orientated, where the activity and/or behavior contains a number of steps in order to complete the task [13, 14]
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