MovDisordV3, Main, Exploration, bibRecord, 003C75

It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)

Identifieur interne : 003C75 ( Main/Exploration ); précédent : 003C74; suivant : 003C76

It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)

Auteurs : Paul J. Lockhart [États-Unis] ; Casey A. O'Farrell [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-01.

RBID : ISTEX:FC6D69FA909D310AECC2DC560477016A2A6EAD08

Descripteurs français

Pascal (Inist)
- Animal, Délétion, Parkine, Souris, Système nerveux pathologie.

English descriptors

KwdEn :
- Animal, Animals, Chromosome Deletion, Chromosome Mapping, Chromosomes, Mammalian, Deletion, Disease Models, Animal, Exons (genetics), Genotype, Homozygote, Mice, Mice, Knockout (genetics), Mice, Quaking (genetics), Mouse, Nervous system diseases, PACRG knockout, Parkin, Parkinson's disease, Promoter Regions, Genetic (genetics), Proteins (genetics), RNA, Messenger (genetics), Ubiquitin-Protein Ligases (genetics), mouse model, parkin knockout.
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. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/FC6D69FA909D310AECC2DC560477016A2A6EAD08/fulltext/pdf

DOI: 10.1002/mds.20000

Affiliations:

Le document en format XML

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<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. © 2003 Movement Disorder Society</div>
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Movement Disorders (revue)

It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)

It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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