Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability
Identifieur interne : 001E38 ( Main/Exploration ); précédent : 001E37; suivant : 001E39Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability
Auteurs : Céline Bonnet [France] ; Alice Masurel-Paulet [France] ; Asma Ali Khan [France] ; Mylène Béri-Dexheimer [France] ; Patrick Callier [France] ; Francine Mugneret [France] ; Christophe Philippe [France] ; Christel Thauvin-Robinet [France] ; Laurence Faivre [France] ; Philippe Jonveaux [France]Source :
- Human Mutation [ 1059-7794 ] ; 2012-02.
English descriptors
- Teeft :
- Acgh, Centre hospitalier universitaire, Database, Exon, Functional noncoding sequences, Gene desert, Genome, Genomic, Genomic hybridization analysis, Genomic variants, Gria3, Gria3 expression, Gria3 gene, Human genome, Human mutation, Hybridization, Intellectual disability, Male control, Male proband, Mental retardation, Mutation, Nancy universite, Noncoding, Other genes, Phenotype, Position effect, Potential role, Primer, Primer sets, Proband, Receptor, Regulatory elements, Supp, Transcription factor binding sites, Wiley periodicals.
Abstract
GRIA3 encodes glutamate receptor ionotropic AMPA (alpha‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid) subunit 3 and has been previously involved in X‐linked intellectual disability (ID). We report on a male proband with ID and epilepsy associated with a duplication mapping within a gene desert, 874‐kb upstream of the GRIA3 gene. This 970‐kb duplication is maternally inherited. The proband's mother has a skewed X chromosome‐inactivation pattern in agreement with her normal cognitive function. Quantitative polymerase chain reaction analysis indicates absence of GRIA3 mRNA in the proband lymphocytes relative to a wild‐type control. Centromeric to the duplicated region, comparative genomic analysis showed a 2268‐bp evolutionarily conserved region that could be a critical transcription factor binding‐site for GRIA3 expression. The repositioning of distant‐acting sequences, rather a missense/nonsense mutation, is considered to be causative for GRIA3‐linked ID. This study illustrates the importance of high‐resolution array‐Comparative Genomic Hybridization analysis in exploring the potential role of disease‐causing mutation in functional noncoding sequences. Hum Mutat 33:355–358, 2012. © 2011 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/humu.21649
Affiliations:
- France
- Bourgogne, Bourgogne-Franche-Comté, Grand Est, Lorraine (région)
- Dijon, Nancy, Vandœuvre-lès-Nancy
- Nancy-Université
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address: Laboratoire de Génétique, EA 4368, Nancy Université, Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, rue de Morvan, 54511 Vandoeuvre les Nancy</wicri:regionArea><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement></placeName><orgName type="university">Nancy-Université</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">33</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="355">355</biblScope><biblScope unit="page" to="358">358</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-02">2012-02</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acgh</term><term>Centre hospitalier universitaire</term><term>Database</term><term>Exon</term><term>Functional noncoding sequences</term><term>Gene desert</term><term>Genome</term><term>Genomic</term><term>Genomic hybridization analysis</term><term>Genomic variants</term><term>Gria3</term><term>Gria3 expression</term><term>Gria3 gene</term><term>Human genome</term><term>Human mutation</term><term>Hybridization</term><term>Intellectual disability</term><term>Male control</term><term>Male proband</term><term>Mental retardation</term><term>Mutation</term><term>Nancy universite</term><term>Noncoding</term><term>Other genes</term><term>Phenotype</term><term>Position effect</term><term>Potential role</term><term>Primer</term><term>Primer sets</term><term>Proband</term><term>Receptor</term><term>Regulatory elements</term><term>Supp</term><term>Transcription factor binding sites</term><term>Wiley periodicals</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GRIA3 encodes glutamate receptor ionotropic AMPA (alpha‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid) subunit 3 and has been previously involved in X‐linked intellectual disability (ID). We report on a male proband with ID and epilepsy associated with a duplication mapping within a gene desert, 874‐kb upstream of the GRIA3 gene. This 970‐kb duplication is maternally inherited. The proband's mother has a skewed X chromosome‐inactivation pattern in agreement with her normal cognitive function. Quantitative polymerase chain reaction analysis indicates absence of GRIA3 mRNA in the proband lymphocytes relative to a wild‐type control. Centromeric to the duplicated region, comparative genomic analysis showed a 2268‐bp evolutionarily conserved region that could be a critical transcription factor binding‐site for GRIA3 expression. The repositioning of distant‐acting sequences, rather a missense/nonsense mutation, is considered to be causative for GRIA3‐linked ID. This study illustrates the importance of high‐resolution array‐Comparative Genomic Hybridization analysis in exploring the potential role of disease‐causing mutation in functional noncoding sequences. Hum Mutat 33:355–358, 2012. © 2011 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Bourgogne</li><li>Bourgogne-Franche-Comté</li><li>Grand Est</li><li>Lorraine (région)</li></region><settlement><li>Dijon</li><li>Nancy</li><li>Vandœuvre-lès-Nancy</li></settlement><orgName><li>Nancy-Université</li></orgName></list><tree><country name="France"><region name="Grand Est"><name sortKey="Bonnet, Celine" sort="Bonnet, Celine" uniqKey="Bonnet C" first="Céline" last="Bonnet">Céline Bonnet</name></region><name sortKey="Beri Exheimer, Mylene" sort="Beri Exheimer, Mylene" uniqKey="Beri Exheimer M" first="Mylène" last="Béri-Dexheimer">Mylène Béri-Dexheimer</name><name sortKey="Callier, Patrick" sort="Callier, Patrick" uniqKey="Callier P" first="Patrick" last="Callier">Patrick Callier</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name><name sortKey="Khan, Asma Ali" sort="Khan, Asma Ali" uniqKey="Khan A" first="Asma Ali" last="Khan">Asma Ali Khan</name><name sortKey="Masurel Aulet, Alice" sort="Masurel Aulet, Alice" uniqKey="Masurel Aulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><name sortKey="Mugneret, Francine" sort="Mugneret, Francine" uniqKey="Mugneret F" first="Francine" last="Mugneret">Francine Mugneret</name><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name><name sortKey="Thauvin Obinet, Christel" sort="Thauvin Obinet, Christel" uniqKey="Thauvin Obinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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