Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.
Identifieur interne : 000627 ( Ncbi/Checkpoint ); précédent : 000626; suivant : 000628Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.
Auteurs : David A. Grimes [Canada] ; Fabin Han ; Michel Panisset ; Lemuel Racacho ; Fengxia Xiao ; Ruobing Zou ; Kelly Westaff ; Dennis E. BulmanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Aged, Amino Acid Substitution (genetics), Chromatography, High Pressure Liquid, Cysteine (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), Exons, Female, Heterozygote Detection, Humans, Introns, Male, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Protein Biosynthesis (genetics), Sequence Analysis, Serine (genetics), Transcription Factors (genetics).
- MESH :
- chemical , genetics : Cysteine, DNA-Binding Proteins, Serine, Transcription Factors.
- genetics : Amino Acid Substitution, Parkinson Disease, Polymorphism, Genetic, Protein Biosynthesis.
- Aged, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Exons, Female, Heterozygote Detection, Humans, Introns, Male, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Sequence Analysis.
Abstract
Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high-performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non-PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C-to-G transversion resulted in a serine-to-cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease.
DOI: 10.1002/mds.20820
PubMed: 16532445
Affiliations:
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Grimes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada. dagrimes@ottawahospital.on.ca</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name></author><author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name></author><author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name></author><author><name sortKey="Xiao, Fengxia" sort="Xiao, Fengxia" uniqKey="Xiao F" first="Fengxia" last="Xiao">Fengxia Xiao</name></author><author><name sortKey="Zou, Ruobing" sort="Zou, Ruobing" uniqKey="Zou R" first="Ruobing" last="Zou">Ruobing Zou</name></author><author><name sortKey="Westaff, Kelly" sort="Westaff, Kelly" uniqKey="Westaff K" first="Kelly" last="Westaff">Kelly Westaff</name></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. 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Grimes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada. dagrimes@ottawahospital.on.ca</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name></author><author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name></author><author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name></author><author><name sortKey="Xiao, Fengxia" sort="Xiao, Fengxia" uniqKey="Xiao F" first="Fengxia" last="Xiao">Fengxia Xiao</name></author><author><name sortKey="Zou, Ruobing" sort="Zou, Ruobing" uniqKey="Zou R" first="Ruobing" last="Zou">Ruobing Zou</name></author><author><name sortKey="Westaff, Kelly" sort="Westaff, Kelly" uniqKey="Westaff K" first="Kelly" last="Westaff">Kelly Westaff</name></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</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="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amino Acid Substitution (genetics)</term><term>Chromatography, High Pressure Liquid</term><term>Cysteine (genetics)</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>Exons</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Introns</term><term>Male</term><term>Middle Aged</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Protein Biosynthesis (genetics)</term><term>Sequence Analysis</term><term>Serine (genetics)</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term><term>DNA-Binding Proteins</term><term>Serine</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term><term>Protein Biosynthesis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Chromatography, High Pressure Liquid</term><term>DNA Mutational Analysis</term><term>Exons</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Introns</term><term>Male</term><term>Middle Aged</term><term>Nuclear Receptor Subfamily 4, Group A, Member 2</term><term>Sequence Analysis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high-performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non-PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C-to-G transversion resulted in a serine-to-cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name><name sortKey="Westaff, Kelly" sort="Westaff, Kelly" uniqKey="Westaff K" first="Kelly" last="Westaff">Kelly Westaff</name><name sortKey="Xiao, Fengxia" sort="Xiao, Fengxia" uniqKey="Xiao F" first="Fengxia" last="Xiao">Fengxia Xiao</name><name sortKey="Zou, Ruobing" sort="Zou, Ruobing" uniqKey="Zou R" first="Ruobing" last="Zou">Ruobing Zou</name></noCountry><country name="Canada"><noRegion><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. Grimes</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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