Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
Identifieur interne : 000478 ( Main/Exploration ); précédent : 000477; suivant : 000479Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
Auteurs : Sejal Patel [Canada, Royaume-Uni] ; Paola Roncaglia ; Ruth C. Lovering [Royaume-Uni]Source :
- BMC Bioinformatics [ 1471-2105 ] ; 2015.
Abstract
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.
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.
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.
The online version of this article (doi:10.1186/s12859-015-0622-0) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s12859-015-0622-0
PubMed: 26047810
PubMed Central: 4458007
Affiliations:
- Canada, Royaume-Uni
- Angleterre, Grand Londres, Ontario
- Londres, Toronto
- University College de Londres, Université de Toronto
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Le document en format XML
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Lovering</name><affiliation wicri:level="4"><nlm:aff id="Aff3">Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, London, WC1E 6JF UK</nlm:aff><orgName type="university">University College de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">BMC Bioinformatics</title><idno type="eISSN">1471-2105</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>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.</p></sec><sec><title>Results</title><p>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.</p></sec><sec><title>Conclusions</title><p>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.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1186/s12859-015-0622-0) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ashburner, M" uniqKey="Ashburner M">M Ashburner</name></author><author><name sortKey="Ball, Ca" uniqKey="Ball C">CA Ball</name></author><author><name sortKey="Blake, Ja" uniqKey="Blake J">JA Blake</name></author><author><name sortKey="Botstein, D" uniqKey="Botstein D">D Botstein</name></author><author><name sortKey="Butler, H" uniqKey="Butler H">H 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Cohen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gkoutos, Gv" uniqKey="Gkoutos G">GV Gkoutos</name></author><author><name sortKey="Schofield, Pn" uniqKey="Schofield P">PN Schofield</name></author><author><name sortKey="Hoehndorf, R" uniqKey="Hoehndorf R">R Hoehndorf</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, S" uniqKey="Kim S">S Kim</name></author><author><name sortKey="Burette, A" uniqKey="Burette A">A Burette</name></author><author><name sortKey="Chung, Hs" uniqKey="Chung H">HS Chung</name></author><author><name sortKey="Kwon, Sk" uniqKey="Kwon S">SK Kwon</name></author><author><name sortKey="Woo, J" uniqKey="Woo J">J Woo</name></author><author><name sortKey="Lee, Hw" uniqKey="Lee H">HW Lee</name></author><author><name sortKey="Kim, K" uniqKey="Kim K">K Kim</name></author><author><name sortKey="Kim, H" uniqKey="Kim H">H Kim</name></author><author><name sortKey="Weinberg, Rj" uniqKey="Weinberg R">RJ Weinberg</name></author><author><name sortKey="Kim, E" uniqKey="Kim E">E Kim</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Canada</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Ontario</li></region><settlement><li>Londres</li><li>Toronto</li></settlement><orgName><li>University College de Londres</li><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Roncaglia, Paola" sort="Roncaglia, Paola" uniqKey="Roncaglia P" first="Paola" last="Roncaglia">Paola Roncaglia</name></noCountry><country name="Canada"><region name="Ontario"><name sortKey="Patel, Sejal" sort="Patel, Sejal" uniqKey="Patel S" first="Sejal" last="Patel">Sejal Patel</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Patel, Sejal" sort="Patel, Sejal" uniqKey="Patel S" first="Sejal" last="Patel">Sejal Patel</name></region><name sortKey="Lovering, Ruth C" sort="Lovering, Ruth C" uniqKey="Lovering R" first="Ruth C." last="Lovering">Ruth C. Lovering</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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