Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Identifieur interne : 000E14 ( PubMed/Corpus ); précédent : 000E13; suivant : 000E15Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Auteurs : Suzanne Lesage ; Periquet Magali ; Ebba Lohmann ; Lucette Lacomblez ; Helio Teive ; Sabine Janin ; Pierre-Yves Cousin ; Alexandra Dürr ; Alexis BriceSource :
- Human mutation [ 1098-1004 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, Female, Gene Deletion, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Pedigree, Promoter Regions, Genetic, Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Molecular Chaperones, Ubiquitin-Protein Ligases.
- epidemiology : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, Female, Gene Deletion, Humans, Male, Middle Aged, Pedigree, Promoter Regions, Genetic.
Abstract
Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1-?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1-?_7+?del mutation and an exon 3 deletion (c.172-?_412+?del). The latter was homozygous for the parkin c.1-?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head-to-head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations.
DOI: 10.1002/humu.20436
PubMed: 17068781
Links to Exploration step
pubmed:17068781Le document en format XML
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sort="Teive, Helio" uniqKey="Teive H" first="Helio" last="Teive">Helio Teive</name></author><author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name></author><author><name sortKey="Cousin, Pierre Yves" sort="Cousin, Pierre Yves" uniqKey="Cousin P" first="Pierre-Yves" last="Cousin">Pierre-Yves Cousin</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17068781</idno><idno type="pmid">17068781</idno><idno type="doi">10.1002/humu.20436</idno><idno type="wicri:Area/PubMed/Corpus">000E14</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" 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Lacomblez</name></author><author><name sortKey="Teive, Helio" sort="Teive, Helio" uniqKey="Teive H" first="Helio" last="Teive">Helio Teive</name></author><author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name></author><author><name sortKey="Cousin, Pierre Yves" sort="Cousin, Pierre Yves" uniqKey="Cousin P" first="Pierre-Yves" last="Cousin">Pierre-Yves Cousin</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Promoter Regions, Genetic</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Promoter Regions, Genetic</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1-?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1-?_7+?del mutation and an exon 3 deletion (c.172-?_412+?del). The latter was homozygous for the parkin c.1-?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head-to-head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17068781</PMID><DateCreated><Year>2006</Year><Month>12</Month><Day>14</Day></DateCreated><DateCompleted><Year>2007</Year><Month>02</Month><Day>09</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1098-1004</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>1</Issue><PubDate><Year>2007</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Human mutation</Title><ISOAbbreviation>Hum. Mutat.</ISOAbbreviation></Journal><ArticleTitle>Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.</ArticleTitle><Pagination><MedlinePgn>27-32</MedlinePgn></Pagination><Abstract><AbstractText>Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1-?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1-?_7+?del mutation and an exon 3 deletion (c.172-?_412+?del). The latter was homozygous for the parkin c.1-?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head-to-head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations.</AbstractText><CopyrightInformation>Published 2006 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Magali</LastName><ForeName>Periquet</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Lacomblez</LastName><ForeName>Lucette</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Teive</LastName><ForeName>Helio</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Janin</LastName><ForeName>Sabine</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Cousin</LastName><ForeName>Pierre-Yves</ForeName><Initials>PY</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson Disease Genetics Study Group</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS41723-01A1</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Hum Mutat</MedlineTA><NlmUniqueID>9215429</NlmUniqueID><ISSNLinking>1059-7794</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C471711">PACRG protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><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="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017353" MajorTopicYN="Y">Gene Deletion</DescriptorName></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="D018832" MajorTopicYN="N">Molecular Chaperones</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020734" MajorTopicYN="N">Parkinsonian Disorders</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011401" MajorTopicYN="Y">Promoter Regions, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044767" MajorTopicYN="N">Ubiquitin-Protein Ligases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>10</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>2</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>10</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17068781</ArticleId><ArticleId IdType="doi">10.1002/humu.20436</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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