It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
Identifieur interne : 003569 ( PubMed/Corpus ); précédent : 003568; suivant : 003570It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
Auteurs : Paul J. Lockhart ; Casey A. O'Farrell ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Animals, Chromosome Deletion, Chromosome Mapping, Chromosomes, Mammalian, Disease Models, Animal, Exons (genetics), Genotype, Homozygote, Mice, Mice, Knockout (genetics), Mice, Quaking (genetics), Promoter Regions, Genetic (genetics), Proteins (genetics), RNA, Messenger (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Proteins, RNA, Messenger, Ubiquitin-Protein Ligases.
- genetics : Exons, Mice, Knockout, Mice, Quaking, Promoter Regions, Genetic.
- Animals, Chromosome Deletion, Chromosome Mapping, Chromosomes, Mammalian, Disease Models, Animal, Genotype, Homozygote, Mice.
Abstract
Mutations in the parkin gene (PRKN) are the commonest cause of juvenile and early-onset parkinsonism. However, the pathogenic mechanism by which loss of parkin protein results in degeneration of dopaminergic neurons remains elusive. Animal models provide a useful tool for the study of development and disease, and the recent production of transgenic fly and mouse parkin deficient models allows investigation of the molecular role of parkin in dopamine regulation and nigrostriatal function. We have identified the mouse mutant Quaking as a spontaneously occurring PRKN knockout. The quaking mutation is a deletion of approximately 1.17 Mb of mouse chromosome 17, resulting in the deletion of the entire promoter and first five coding exons of PRKN In addition, the recently described Parkin Co-Regulated Gene (PACRG) is completely deleted. Homozygous Quaking mice show a complete loss of PRKN and PACRG mRNA and protein. These mice will constitute a useful additional model for studies of the molecular role of parkin and PACRG in neurodegeneration.
DOI: 10.1002/mds.20000
PubMed: 14743368
Links to Exploration step
pubmed:14743368Le document en format XML
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Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:14743368</idno><idno type="pmid">14743368</idno><idno type="doi">10.1002/mds.20000</idno><idno type="wicri:Area/PubMed/Corpus">003569</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).</title><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J" last="Lockhart">Paul J. Lockhart</name><affiliation><nlm:affiliation>Mayo Clinic Jacksonville, Jacksonville, Florida 32224, USA.</nlm:affiliation></affiliation></author><author><name sortKey="O Farrell, Casey A" sort="O Farrell, Casey A" uniqKey="O Farrell C" first="Casey A" last="O'Farrell">Casey A. O'Farrell</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Chromosomes, Mammalian</term><term>Disease Models, Animal</term><term>Exons (genetics)</term><term>Genotype</term><term>Homozygote</term><term>Mice</term><term>Mice, Knockout (genetics)</term><term>Mice, Quaking (genetics)</term><term>Promoter Regions, Genetic (genetics)</term><term>Proteins (genetics)</term><term>RNA, Messenger (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term><term>RNA, Messenger</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Mice, Knockout</term><term>Mice, Quaking</term><term>Promoter Regions, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Chromosomes, Mammalian</term><term>Disease Models, Animal</term><term>Genotype</term><term>Homozygote</term><term>Mice</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the parkin gene (PRKN) are the commonest cause of juvenile and early-onset parkinsonism. However, the pathogenic mechanism by which loss of parkin protein results in degeneration of dopaminergic neurons remains elusive. Animal models provide a useful tool for the study of development and disease, and the recent production of transgenic fly and mouse parkin deficient models allows investigation of the molecular role of parkin in dopamine regulation and nigrostriatal function. We have identified the mouse mutant Quaking as a spontaneously occurring PRKN knockout. The quaking mutation is a deletion of approximately 1.17 Mb of mouse chromosome 17, resulting in the deletion of the entire promoter and first five coding exons of PRKN In addition, the recently described Parkin Co-Regulated Gene (PACRG) is completely deleted. Homozygous Quaking mice show a complete loss of PRKN and PACRG mRNA and protein. These mice will constitute a useful additional model for studies of the molecular role of parkin and PACRG in neurodegeneration.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">14743368</PMID><DateCreated><Year>2004</Year><Month>01</Month><Day>26</Day></DateCreated><DateCompleted><Year>2004</Year><Month>08</Month><Day>31</Day></DateCompleted><DateRevised><Year>2008</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>19</Volume><Issue>1</Issue><PubDate><Year>2004</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).</ArticleTitle><Pagination><MedlinePgn>101-4</MedlinePgn></Pagination><Abstract><AbstractText>Mutations in the parkin gene (PRKN) are the commonest cause of juvenile and early-onset parkinsonism. However, the pathogenic mechanism by which loss of parkin protein results in degeneration of dopaminergic neurons remains elusive. Animal models provide a useful tool for the study of development and disease, and the recent production of transgenic fly and mouse parkin deficient models allows investigation of the molecular role of parkin in dopamine regulation and nigrostriatal function. We have identified the mouse mutant Quaking as a spontaneously occurring PRKN knockout. The quaking mutation is a deletion of approximately 1.17 Mb of mouse chromosome 17, resulting in the deletion of the entire promoter and first five coding exons of PRKN In addition, the recently described Parkin Co-Regulated Gene (PACRG) is completely deleted. Homozygous Quaking mice show a complete loss of PRKN and PACRG mRNA and protein. 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