DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
Identifieur interne : 003573 ( PubMed/Corpus ); précédent : 003572; suivant : 003574DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
Auteurs : Paola Costa-Mallen ; Zahra Afsharinejad ; Samir N. Kelada ; Lucio G. Costa ; Gary M. Franklin ; Phillip D. Swanson ; W T Longstreth ; Hannah-Malia A. Viernes ; Federico M. Farin ; Terri Smith-Weller ; Harvey CheckowaySource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Alleles, Base Pairing (genetics), Chromosomes, Human, X, DNA Mutational Analysis, Exons (genetics), Female, Gene Frequency (genetics), Genetic Testing, Genetic Variation, Genotype, Heterozygote Detection, Humans, Introns (genetics), Linkage Disequilibrium, Male, Middle Aged, Molecular Sequence Data, Monoamine Oxidase (genetics), Parkinson Disease (enzymology), Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Promoter Regions, Genetic (genetics), Protein Biosynthesis, Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Monoamine Oxidase.
- enzymology : Parkinson Disease.
- genetics : Base Pairing, Exons, Gene Frequency, Introns, Parkinson Disease, Polymorphism, Genetic, Promoter Regions, Genetic.
- Aged, Aged, 80 and over, Alleles, Chromosomes, Human, X, DNA Mutational Analysis, Female, Genetic Testing, Genetic Variation, Genotype, Heterozygote Detection, Humans, Linkage Disequilibrium, Male, Middle Aged, Molecular Sequence Data, Protein Biosynthesis, Sequence Analysis, DNA.
Abstract
The allele G of the intron 13 G/A polymorphism of the monoamine oxidase B gene (MAO-B) has been associated with Parkinson's disease (PD) in several studies. Apart from a potential direct effect on splicing processes, the association of this intronic polymorphism with PD is due possibly to linkage disequilibrium with other mutations in the coding or promoter regions of the gene. We addressed this latter hypothesis by determining the DNA sequence of the entire MAO-B coding region comprising 15 exons and partial intronic sequences flanking each exon, in 33 cases with idiopathic PD and 38 unrelated controls. The promoter region of MAO-B gene up to base -1,369 from ATG (start point of mRNA translation) was also sequenced to identify variants with potential functional effects on gene transcription. In the promoter region, a new polymorphism consisting of a C to T single base change was detected in position -1,114 from ATG, with an allelic frequency of 3.5%, but it was not associated with PD risk. No commonly occurring (>10%) polymorphisms were found in the exons or the intronic sequences flanking the exons, although several rare variants were detected in the coding and promoter regions.
DOI: 10.1002/mds.10624
PubMed: 14743364
Links to Exploration step
pubmed:14743364Le document en format XML
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Kelada</name></author><author><name sortKey="Costa, Lucio G" sort="Costa, Lucio G" uniqKey="Costa L" first="Lucio G" last="Costa">Lucio G. Costa</name></author><author><name sortKey="Franklin, Gary M" sort="Franklin, Gary M" uniqKey="Franklin G" first="Gary M" last="Franklin">Gary M. Franklin</name></author><author><name sortKey="Swanson, Phillip D" sort="Swanson, Phillip D" uniqKey="Swanson P" first="Phillip D" last="Swanson">Phillip D. Swanson</name></author><author><name sortKey="Longstreth, W T" sort="Longstreth, W T" uniqKey="Longstreth W" first="W T" last="Longstreth">W T Longstreth</name></author><author><name sortKey="Viernes, Hannah Malia A" sort="Viernes, Hannah Malia A" uniqKey="Viernes H" first="Hannah-Malia A" last="Viernes">Hannah-Malia A. Viernes</name></author><author><name sortKey="Farin, Federico M" sort="Farin, Federico M" uniqKey="Farin F" first="Federico M" last="Farin">Federico M. 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Kelada</name></author><author><name sortKey="Costa, Lucio G" sort="Costa, Lucio G" uniqKey="Costa L" first="Lucio G" last="Costa">Lucio G. Costa</name></author><author><name sortKey="Franklin, Gary M" sort="Franklin, Gary M" uniqKey="Franklin G" first="Gary M" last="Franklin">Gary M. Franklin</name></author><author><name sortKey="Swanson, Phillip D" sort="Swanson, Phillip D" uniqKey="Swanson P" first="Phillip D" last="Swanson">Phillip D. Swanson</name></author><author><name sortKey="Longstreth, W T" sort="Longstreth, W T" uniqKey="Longstreth W" first="W T" last="Longstreth">W T Longstreth</name></author><author><name sortKey="Viernes, Hannah Malia A" sort="Viernes, Hannah Malia A" uniqKey="Viernes H" first="Hannah-Malia A" last="Viernes">Hannah-Malia A. Viernes</name></author><author><name sortKey="Farin, Federico M" sort="Farin, Federico M" uniqKey="Farin F" first="Federico M" last="Farin">Federico M. Farin</name></author><author><name sortKey="Smith Weller, Terri" sort="Smith Weller, Terri" uniqKey="Smith Weller T" first="Terri" last="Smith-Weller">Terri Smith-Weller</name></author><author><name sortKey="Checkoway, Harvey" sort="Checkoway, Harvey" uniqKey="Checkoway H" first="Harvey" last="Checkoway">Harvey Checkoway</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>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Base Pairing (genetics)</term><term>Chromosomes, Human, X</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genetic Testing</term><term>Genetic Variation</term><term>Genotype</term><term>Heterozygote Detection</term><term>Humans</term><term>Introns (genetics)</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Monoamine Oxidase (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Promoter Regions, Genetic (genetics)</term><term>Protein Biosynthesis</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Monoamine Oxidase</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Base Pairing</term><term>Exons</term><term>Gene Frequency</term><term>Introns</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term><term>Promoter Regions, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Chromosomes, Human, X</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Genetic Variation</term><term>Genotype</term><term>Heterozygote Detection</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Protein Biosynthesis</term><term>Sequence Analysis, DNA</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The allele G of the intron 13 G/A polymorphism of the monoamine oxidase B gene (MAO-B) has been associated with Parkinson's disease (PD) in several studies. Apart from a potential direct effect on splicing processes, the association of this intronic polymorphism with PD is due possibly to linkage disequilibrium with other mutations in the coding or promoter regions of the gene. We addressed this latter hypothesis by determining the DNA sequence of the entire MAO-B coding region comprising 15 exons and partial intronic sequences flanking each exon, in 33 cases with idiopathic PD and 38 unrelated controls. The promoter region of MAO-B gene up to base -1,369 from ATG (start point of mRNA translation) was also sequenced to identify variants with potential functional effects on gene transcription. In the promoter region, a new polymorphism consisting of a C to T single base change was detected in position -1,114 from ATG, with an allelic frequency of 3.5%, but it was not associated with PD risk. No commonly occurring (>10%) polymorphisms were found in the exons or the intronic sequences flanking the exons, although several rare variants were detected in the coding and promoter regions.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">14743364</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>2009</Year><Month>11</Month><Day>19</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>DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.</ArticleTitle><Pagination><MedlinePgn>76-83</MedlinePgn></Pagination><Abstract><AbstractText>The allele G of the intron 13 G/A polymorphism of the monoamine oxidase B gene (MAO-B) has been associated with Parkinson's disease (PD) in several studies. Apart from a potential direct effect on splicing processes, the association of this intronic polymorphism with PD is due possibly to linkage disequilibrium with other mutations in the coding or promoter regions of the gene. We addressed this latter hypothesis by determining the DNA sequence of the entire MAO-B coding region comprising 15 exons and partial intronic sequences flanking each exon, in 33 cases with idiopathic PD and 38 unrelated controls. The promoter region of MAO-B gene up to base -1,369 from ATG (start point of mRNA translation) was also sequenced to identify variants with potential functional effects on gene transcription. In the promoter region, a new polymorphism consisting of a C to T single base change was detected in position -1,114 from ATG, with an allelic frequency of 3.5%, but it was not associated with PD risk. No commonly occurring (>10%) polymorphisms were found in the exons or the intronic sequences flanking the exons, although several rare variants were detected in the coding and promoter regions.</AbstractText><CopyrightInformation>Copyright 2003 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Costa-Mallen</LastName><ForeName>Paola</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Environmental and Occupational Health Sciences, School of Public Health and Community Medicine, University of Washington, Seattle, Washington 98195-6099, USA. cstpla@u.washington.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Afsharinejad</LastName><ForeName>Zahra</ForeName><Initials>Z</Initials></Author><Author ValidYN="Y"><LastName>Kelada</LastName><ForeName>Samir N</ForeName><Initials>SN</Initials></Author><Author ValidYN="Y"><LastName>Costa</LastName><ForeName>Lucio G</ForeName><Initials>LG</Initials></Author><Author ValidYN="Y"><LastName>Franklin</LastName><ForeName>Gary M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Swanson</LastName><ForeName>Phillip D</ForeName><Initials>PD</Initials></Author><Author ValidYN="Y"><LastName>Longstreth</LastName><ForeName>W T</ForeName><Initials>WT</Initials><Suffix>Jr</Suffix></Author><Author ValidYN="Y"><LastName>Viernes</LastName><ForeName>Hannah-Malia A</ForeName><Initials>HM</Initials></Author><Author ValidYN="Y"><LastName>Farin</LastName><ForeName>Federico M</ForeName><Initials>FM</Initials></Author><Author ValidYN="Y"><LastName>Smith-Weller</LastName><ForeName>Terri</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Checkoway</LastName><ForeName>Harvey</ForeName><Initials>H</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P30ES07033</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P42ES04696</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01ES10750</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>T32ES07032</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 1.4.3.4</RegistryNumber><NameOfSubstance UI="D008995">Monoamine Oxidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020029">Base Pairing</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D041321">Chromosomes, Human, X</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014644">Genetic Variation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006580">Heterozygote Detection</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007438">Introns</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008969">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008995">Monoamine Oxidase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000201">enzymology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011401">Promoter Regions, Genetic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014176">Protein Biosynthesis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>1</Month><Day>27</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>9</Month><Day>1</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2004</Year><Month>1</Month><Day>27</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">14743364</ArticleId><ArticleId 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