Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Identifieur interne : 001415 ( PubMed/Curation ); précédent : 001414; suivant : 001416Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Auteurs : C. Dumanchin [France] ; A. Camuzat ; D. Campion ; P. Verpillat ; D. Hannequin ; B. Dubois ; P. Saugier-Veber ; C. Martin ; C. Penet ; F. Charbonnier ; Y. Agid ; T. Frebourg ; A. BriceSource :
- Human molecular genetics [ 0964-6906 ] ; 1998.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : tau Proteins.
- genetics : Dementia, Parkinson Disease.
- pathology : Dementia, Frontal Lobe, Temporal Lobe.
- Adult, Age of Onset, Aged, Female, Humans, Male, Middle Aged, Mutation, Missense, Pedigree.
Abstract
Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form of FTDP have been reported and in some families the pathological locus was mapped to a 2 cM interval on 17q21-22. The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains from some FTDP patients. Direct sequencing of the MAPT exonic sequences in 21 French FTDP families revealed in six index cases the same missense mutation in exon 10 resulting in a Pro-->Leu change at amino acid 301. Co-segregation of this mutation with the disease was demonstrated by restriction fragment analysis in two families for which several affected relatives were available. The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. This mutation, which occurs in the second microtubule-binding domain of the MAPT protein, is likely to have a drastic functional consequence. The observation of this mutation in several FTDP families might suggest that disruption of binding of MAPT protein to the microtubule is a key event in the pathogenesis of FTDP.
PubMed: 9736786
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Dumanchin</name><affiliation wicri:level="1"><nlm:affiliation>Génétique et Hématologie Moléculaires (JE 2006), Centre Hospitalo-Universitaire de Rouen, 76031 Rouen, France and IFRMP, 76821 Mont-Saint-Aignon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Génétique et Hématologie Moléculaires (JE 2006), Centre Hospitalo-Universitaire de Rouen, 76031 Rouen, France and IFRMP, 76821 Mont-Saint-Aignon</wicri:regionArea></affiliation></author><author><name sortKey="Camuzat, A" sort="Camuzat, A" uniqKey="Camuzat A" first="A" last="Camuzat">A. Camuzat</name></author><author><name sortKey="Campion, D" sort="Campion, D" uniqKey="Campion D" first="D" last="Campion">D. Campion</name></author><author><name sortKey="Verpillat, P" sort="Verpillat, P" uniqKey="Verpillat P" first="P" last="Verpillat">P. Verpillat</name></author><author><name sortKey="Hannequin, D" sort="Hannequin, D" uniqKey="Hannequin D" first="D" last="Hannequin">D. Hannequin</name></author><author><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B" last="Dubois">B. Dubois</name></author><author><name sortKey="Saugier Veber, P" sort="Saugier Veber, P" uniqKey="Saugier Veber P" first="P" last="Saugier-Veber">P. Saugier-Veber</name></author><author><name sortKey="Martin, C" sort="Martin, C" uniqKey="Martin C" first="C" last="Martin">C. Martin</name></author><author><name sortKey="Penet, C" sort="Penet, C" uniqKey="Penet C" first="C" last="Penet">C. Penet</name></author><author><name sortKey="Charbonnier, F" sort="Charbonnier, F" uniqKey="Charbonnier F" first="F" last="Charbonnier">F. Charbonnier</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</name></author><author><name sortKey="Frebourg, T" sort="Frebourg, T" uniqKey="Frebourg T" first="T" last="Frebourg">T. Frebourg</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></analytic><series><title level="j">Human molecular genetics</title><idno type="ISSN">0964-6906</idno><imprint><date when="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Dementia (genetics)</term><term>Dementia (pathology)</term><term>Female</term><term>Frontal Lobe (pathology)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Temporal Lobe (pathology)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dementia</term><term>Frontal Lobe</term><term>Temporal Lobe</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form of FTDP have been reported and in some families the pathological locus was mapped to a 2 cM interval on 17q21-22. The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains from some FTDP patients. Direct sequencing of the MAPT exonic sequences in 21 French FTDP families revealed in six index cases the same missense mutation in exon 10 resulting in a Pro-->Leu change at amino acid 301. Co-segregation of this mutation with the disease was demonstrated by restriction fragment analysis in two families for which several affected relatives were available. The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. This mutation, which occurs in the second microtubule-binding domain of the MAPT protein, is likely to have a drastic functional consequence. The observation of this mutation in several FTDP families might suggest that disruption of binding of MAPT protein to the microtubule is a key event in the pathogenesis of FTDP.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">9736786</PMID><DateCreated><Year>1998</Year><Month>12</Month><Day>01</Day></DateCreated><DateCompleted><Year>1998</Year><Month>12</Month><Day>01</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0964-6906</ISSN><JournalIssue CitedMedium="Print"><Volume>7</Volume><Issue>11</Issue><PubDate><Year>1998</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Human molecular genetics</Title><ISOAbbreviation>Hum. Mol. Genet.</ISOAbbreviation></Journal><ArticleTitle>Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.</ArticleTitle><Pagination><MedlinePgn>1825-9</MedlinePgn></Pagination><Abstract><AbstractText>Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form of FTDP have been reported and in some families the pathological locus was mapped to a 2 cM interval on 17q21-22. The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains from some FTDP patients. Direct sequencing of the MAPT exonic sequences in 21 French FTDP families revealed in six index cases the same missense mutation in exon 10 resulting in a Pro-->Leu change at amino acid 301. Co-segregation of this mutation with the disease was demonstrated by restriction fragment analysis in two families for which several affected relatives were available. The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. This mutation, which occurs in the second microtubule-binding domain of the MAPT protein, is likely to have a drastic functional consequence. The observation of this mutation in several FTDP families might suggest that disruption of binding of MAPT protein to the microtubule is a key event in the pathogenesis of FTDP.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dumanchin</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Génétique et Hématologie Moléculaires (JE 2006), Centre Hospitalo-Universitaire de Rouen, 76031 Rouen, France and IFRMP, 76821 Mont-Saint-Aignon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Camuzat</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Campion</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Verpillat</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Hannequin</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Dubois</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Saugier-Veber</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Martin</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Penet</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Charbonnier</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Frebourg</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Hum Mol Genet</MedlineTA><NlmUniqueID>9208958</NlmUniqueID><ISSNLinking>0964-6906</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016875">tau Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003704" MajorTopicYN="N">Dementia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005625" MajorTopicYN="N">Frontal Lobe</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013702" MajorTopicYN="N">Temporal Lobe</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016875" MajorTopicYN="N">tau Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1998</Year><Month>9</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1998</Year><Month>9</Month><Day>16</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1998</Year><Month>9</Month><Day>16</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9736786</ArticleId><ArticleId IdType="pii">ddb227</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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