Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
Identifieur interne : 001255 ( PubMed/Corpus ); précédent : 001254; suivant : 001256Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
Auteurs : M. Periquet ; C. Lücking ; J. Vaughan ; V. Bonifati ; A. Dürr ; G. De Michele ; M. Horstink ; M. Farrer ; S N Illarioshkin ; P. Pollak ; M. Borg ; C. Brefel-Courbon ; P. Denefle ; G. Meco ; T. Gasser ; M M Breteler ; N. Wood ; Y. Agid ; A. BriceSource :
- American journal of human genetics [ 0002-9297 ] ; 2001.
English descriptors
- KwdEn :
- Age of Onset, Chromosome Mapping, Chromosomes, Human, Pair 6, Europe, European Continental Ancestry Group (genetics), Exons, Family, Founder Effect, Gene Rearrangement, Genes, Recessive, Genetic Markers, Humans, Ligases (genetics), Linkage Disequilibrium, Microsatellite Repeats (genetics), Mutation, Nuclear Family, Parkinson Disease (genetics), Parkinsonian Disorders (genetics), Point Mutation, Sequence Deletion, Ubiquitin-Protein Ligases.
- MESH :
- chemical , genetics : Ligases.
- chemical : Genetic Markers, Ubiquitin-Protein Ligases.
- genetics : European Continental Ancestry Group, Microsatellite Repeats, Parkinson Disease, Parkinsonian Disorders.
- Age of Onset, Chromosome Mapping, Chromosomes, Human, Pair 6, Europe, Exons, Family, Founder Effect, Gene Rearrangement, Genes, Recessive, Humans, Linkage Disequilibrium, Mutation, Nuclear Family, Point Mutation, Sequence Deletion.
Abstract
A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the parkin gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the parkin gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.
PubMed: 11179010
Links to Exploration step
pubmed:11179010Le document en format XML
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Dürr</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Horstink, M" sort="Horstink, M" uniqKey="Horstink M" first="M" last="Horstink">M. Horstink</name></author><author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name></author><author><name sortKey="Illarioshkin, S N" sort="Illarioshkin, S N" uniqKey="Illarioshkin S" first="S N" last="Illarioshkin">S N Illarioshkin</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Borg, M" sort="Borg, M" uniqKey="Borg M" first="M" last="Borg">M. Borg</name></author><author><name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. 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Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11179010</idno><idno type="pmid">11179010</idno><idno type="wicri:Area/PubMed/Corpus">001255</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001255</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.</title><author><name sortKey="Periquet, M" sort="Periquet, M" uniqKey="Periquet M" first="M" last="Periquet">M. Periquet</name><affiliation><nlm:affiliation>INSERM U289, Hôpital de la Salpêtrière, 75651 Paris, Cedex 13, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lucking, C" sort="Lucking, C" uniqKey="Lucking C" first="C" last="Lücking">C. Lücking</name></author><author><name sortKey="Vaughan, J" sort="Vaughan, J" uniqKey="Vaughan J" first="J" last="Vaughan">J. Vaughan</name></author><author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Horstink, M" sort="Horstink, M" uniqKey="Horstink M" first="M" last="Horstink">M. Horstink</name></author><author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name></author><author><name sortKey="Illarioshkin, S N" sort="Illarioshkin, S N" uniqKey="Illarioshkin S" first="S N" last="Illarioshkin">S N Illarioshkin</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Borg, M" sort="Borg, M" uniqKey="Borg M" first="M" last="Borg">M. Borg</name></author><author><name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. Brefel-Courbon</name></author><author><name sortKey="Denefle, P" sort="Denefle, P" uniqKey="Denefle P" first="P" last="Denefle">P. Denefle</name></author><author><name sortKey="Meco, G" sort="Meco, G" uniqKey="Meco G" first="G" last="Meco">G. Meco</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author><author><name sortKey="Breteler, M M" sort="Breteler, M M" uniqKey="Breteler M" first="M M" last="Breteler">M M Breteler</name></author><author><name sortKey="Wood, N" sort="Wood, N" uniqKey="Wood N" first="N" last="Wood">N. Wood</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</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">American journal of human genetics</title><idno type="ISSN">0002-9297</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 6</term><term>Europe</term><term>European Continental Ancestry Group (genetics)</term><term>Exons</term><term>Family</term><term>Founder Effect</term><term>Gene Rearrangement</term><term>Genes, Recessive</term><term>Genetic Markers</term><term>Humans</term><term>Ligases (genetics)</term><term>Linkage Disequilibrium</term><term>Microsatellite Repeats (genetics)</term><term>Mutation</term><term>Nuclear Family</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Point Mutation</term><term>Sequence Deletion</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Microsatellite Repeats</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 6</term><term>Europe</term><term>Exons</term><term>Family</term><term>Founder Effect</term><term>Gene Rearrangement</term><term>Genes, Recessive</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Mutation</term><term>Nuclear Family</term><term>Point Mutation</term><term>Sequence Deletion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the parkin gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the parkin gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11179010</PMID><DateCreated><Year>2001</Year><Month>02</Month><Day>22</Day></DateCreated><DateCompleted><Year>2001</Year><Month>04</Month><Day>05</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0002-9297</ISSN><JournalIssue CitedMedium="Print"><Volume>68</Volume><Issue>3</Issue><PubDate><Year>2001</Year><Month>Mar</Month></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.</ArticleTitle><Pagination><MedlinePgn>617-26</MedlinePgn></Pagination><Abstract><AbstractText>A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the parkin gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the parkin gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Periquet</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>INSERM U289, Hôpital de la Salpêtrière, 75651 Paris, Cedex 13, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lücking</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Vaughan</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bonifati</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>De Michele</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Horstink</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Illarioshkin</LastName><ForeName>S N</ForeName><Initials>SN</Initials></Author><Author ValidYN="Y"><LastName>Pollak</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Borg</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Brefel-Courbon</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Denefle</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Meco</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Breteler</LastName><ForeName>M M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson's Disease Genetics Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2001</Year><Month>02</Month><Day>14</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.-</RegistryNumber><NameOfSubstance UI="D008025">Ligases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 1999 Nov;8(12):2285-92</RefSource><PMID Version="1">10545609</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 1999 Jul;67(3):183-93</RefSource><PMID Version="1">10381326</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2000 May 25;342(21):1560-7</RefSource><PMID Version="1">10824074</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Curr Opin Genet Dev. 2000 Jun;10(3):292-8</RefSource><PMID Version="1">10826990</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Med. 2000 May;32(4):264-73</RefSource><PMID Version="1">10852143</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2000 Jul;48(1):65-71</RefSource><PMID 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6</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005060" MajorTopicYN="N">Europe</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044465" MajorTopicYN="N">European Continental Ancestry Group</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="Y">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005190" MajorTopicYN="N">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018703" MajorTopicYN="Y">Founder Effect</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015321" MajorTopicYN="Y">Gene Rearrangement</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005819" MajorTopicYN="N">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008025" MajorTopicYN="N">Ligases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015810" MajorTopicYN="N">Linkage Disequilibrium</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018895" MajorTopicYN="N">Microsatellite Repeats</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009679" MajorTopicYN="N">Nuclear Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020734" MajorTopicYN="N">Parkinsonian Disorders</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017354" MajorTopicYN="N">Point Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017384" MajorTopicYN="N">Sequence Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044767" MajorTopicYN="N">Ubiquitin-Protein Ligases</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC1274475</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2000</Year><Month>11</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2001</Year><Month>01</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>2</Month><Day>17</Day><Hour>11</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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