AustralieFrV1, Main, Exploration, bibRecord, 008B55

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Identifieur interne : 008B55 ( Main/Exploration ); précédent : 008B54; suivant : 008B56

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Auteurs : Florence Molinari [France] ; Francois Foulquier [Belgique, France] ; Patrick S. Tarpey [Royaume-Uni] ; Willy Morelle [France] ; Sarah Boissel [France] ; Jon Teague [Royaume-Uni] ; Sarah Edkins [Royaume-Uni] ; P. Andrew Futreal [Royaume-Uni] ; Michael R. Stratton [Royaume-Uni] ; Gillian Turner [Australie] ; Gert Matthijs [Belgique] ; Jozef Gecz [Australie] ; Arnold Munnich [France] ; Laurence Colleaux [France]

Source :

American journal of human genetics [ 0002-9297 ] ; 2008.

RBID : Pascal:08-0252115

Descripteurs français

Pascal (Inist)
- Arriération mentale, Sousunité, Mutation, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Genetics, Human, Mental retardation, Mutation, Subunit.

Abstract

Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes involved in autosomal-recessive and X-linked NSMR. First, autozygosity mapping in two sibs born to first-cousin French parents led to the identification of a region on 8p22-p23.1. This interval encompasses the gene N33/TUSC3 encoding one subunit of the oligosaccharyltransferase (OTase) complex, which catalyzes the transfer of an oligosaccharide chain on nascent proteins, the key step of N-glycosylation. Sequencing N33/TUSC3 identified a 1 bp insertion, c.787_788insC, resulting in a premature stop codon, p.N263fsX300, and leading to mRNA decay. Surprisingly, glycosylation analyses of patient fibroblasts showed normal N-glycan synthesis and transfer, suggesting that normal N-glycosylation observed in patient fibroblasts may be due to functional compensation. Subsequently, screening of the X-linked N33/TUSC3 paralog, the JAP gene, identified a missense mutation (c.932T→G, p.V311G) in a family with X-linked NSMR. Recent studies of fucosylation and polysialic-acid modification of neuronal cell-adhesion glycoproteins have shown the critical role of glycosylation in synaptic plasticity. However, our data provide the first demonstration that a defect in N-glycosylation can result in NSMR. Together, our results demonstrate that fine regulation of OTase activity is essential for normal cognitive-function development, providing therefore further insights to understand the pathophysiological bases of MR.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427205

Affiliations:

Le document en format XML

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<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Hinxton, CB10 1SA Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R." last="Stratton">Michael R. Stratton</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus</s1>
<s2>Hinxton, CB10 1SA Cambridge</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Hinxton, CB10 1SA Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>The Gold Service, Hunter Genetics and University of Newcastle</s1>
<s2>New South Wales, NSW 2308</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales, NSW 2308</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Laboratory for Molecular Diagnostics, Center for Human Genetics, University of Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>North Adelaide, SA 5005</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>North Adelaide, SA 5005</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Pediatrics and School of Molecular & Biomedical Science, University of Adelaide</s1>
<s2>Adelaide, SA 5005</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide, SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Laboratoire de Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781), Université Paris Descartes, Hôpital Necker-Enfants Malades</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Laboratoire de Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781), Université Paris Descartes, Hôpital Necker-Enfants Malades</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Subunit</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Sousunité</term>
<term>Mutation</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes involved in autosomal-recessive and X-linked NSMR. First, autozygosity mapping in two sibs born to first-cousin French parents led to the identification of a region on 8p22-p23.1. This interval encompasses the gene N33/TUSC3 encoding one subunit of the oligosaccharyltransferase (OTase) complex, which catalyzes the transfer of an oligosaccharide chain on nascent proteins, the key step of N-glycosylation. Sequencing N33/TUSC3 identified a 1 bp insertion, c.787_788insC, resulting in a premature stop codon, p.N263fsX300, and leading to mRNA decay. Surprisingly, glycosylation analyses of patient fibroblasts showed normal N-glycan synthesis and transfer, suggesting that normal N-glycosylation observed in patient fibroblasts may be due to functional compensation. Subsequently, screening of the X-linked N33/TUSC3 paralog, the JAP gene, identified a missense mutation (c.932T→G, p.V311G) in a family with X-linked NSMR. Recent studies of fucosylation and polysialic-acid modification of neuronal cell-adhesion glycoproteins have shown the critical role of glycosylation in synaptic plasticity. However, our data provide the first demonstration that a defect in N-glycosylation can result in NSMR. Together, our results demonstrate that fine regulation of OTase activity is essential for normal cognitive-function development, providing therefore further insights to understand the pathophysiological bases of MR.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Province du Brabant flamand</li>
<li>Île-de-France</li>
</region>
<settlement><li>Louvain</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Molinari, Florence" sort="Molinari, Florence" uniqKey="Molinari F" first="Florence" last="Molinari">Florence Molinari</name>
</region>
<name sortKey="Boissel, Sarah" sort="Boissel, Sarah" uniqKey="Boissel S" first="Sarah" last="Boissel">Sarah Boissel</name>
<name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<name sortKey="Foulquier, Francois" sort="Foulquier, Francois" uniqKey="Foulquier F" first="Francois" last="Foulquier">Francois Foulquier</name>
<name sortKey="Morelle, Willy" sort="Morelle, Willy" uniqKey="Morelle W" first="Willy" last="Morelle">Willy Morelle</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
</country>
<country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Foulquier, Francois" sort="Foulquier, Francois" uniqKey="Foulquier F" first="Francois" last="Foulquier">Francois Foulquier</name>
</region>
<name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name>
</noRegion>
<name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name>
<name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P. Andrew" last="Futreal">P. Andrew Futreal</name>
<name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R." last="Stratton">Michael R. Stratton</name>
<name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name>
</country>
<country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
</noRegion>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</country>
</tree>
</affiliations>
</record>

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

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