HS1-BP3 gene variant is common in familial essential tremor.
Identifieur interne : 000101 ( Ncbi/Merge ); précédent : 000100; suivant : 000102HS1-BP3 gene variant is common in familial essential tremor.
Auteurs : Joseph. Higgins [États-Unis] ; Roni. Lombardi ; Joanna Pucilowska ; Joseph Jankovic [États-Unis] ; Lawrence. Golbe ; Leo VerhagenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Chromosomes, Human, Pair 2 (genetics), DNA Primers (genetics), Essential Tremor (genetics), Essential Tremor (physiopathology), Exons (genetics), Female, Genetic Variation (genetics), Genotype, Humans, Male, Middle Aged, Nerve Tissue Proteins (genetics), Polymerase Chain Reaction, Posture (physiology).
- MESH :
- chemical , genetics : DNA Primers, Nerve Tissue Proteins.
- genetics : Chromosomes, Human, Pair 2, Essential Tremor, Exons, Genetic Variation.
- physiology : Posture.
- physiopathology : Essential Tremor.
- Aged, Aged, 80 and over, Female, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction.
Abstract
Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.
DOI: 10.1002/mds.20692
PubMed: 16211613
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">HS1-BP3 gene variant is common in familial essential tremor.</title><author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph" last="Higgins">Joseph. Higgins</name><affiliation wicri:level="2"><nlm:affiliation>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York, USA. jhiggins@fpinstitute.org</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni" last="Lombardi">Roni. Lombardi</name></author><author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence" last="Golbe">Lawrence. Golbe</name></author><author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20692</idno><idno type="RBID">pubmed:16211613</idno><idno type="pmid">16211613</idno><idno type="wicri:Area/PubMed/Corpus">000189</idno><idno type="wicri:Area/PubMed/Curation">000189</idno><idno type="wicri:Area/PubMed/Checkpoint">000180</idno><idno type="wicri:Area/Ncbi/Merge">000101</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">HS1-BP3 gene variant is common in familial essential tremor.</title><author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph" last="Higgins">Joseph. Higgins</name><affiliation wicri:level="2"><nlm:affiliation>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York, USA. jhiggins@fpinstitute.org</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni" last="Lombardi">Roni. Lombardi</name></author><author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence" last="Golbe">Lawrence. Golbe</name></author><author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</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>Aged, 80 and over</term><term>Chromosomes, Human, Pair 2 (genetics)</term><term>DNA Primers (genetics)</term><term>Essential Tremor (genetics)</term><term>Essential Tremor (physiopathology)</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Polymerase Chain Reaction</term><term>Posture (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 2</term><term>Essential Tremor</term><term>Exons</term><term>Genetic Variation</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Posture</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Essential Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16211613</PMID><DateCreated><Year>2006</Year><Month>03</Month><Day>15</Day></DateCreated><DateCompleted><Year>2006</Year><Month>08</Month><Day>03</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>21</Volume><Issue>3</Issue><PubDate><Year>2006</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>HS1-BP3 gene variant is common in familial essential tremor.</ArticleTitle><Pagination><MedlinePgn>306-9</MedlinePgn></Pagination><Abstract><AbstractText>Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.</AbstractText><CopyrightInformation>(c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Higgins</LastName><ForeName>Joseph J</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York, USA. jhiggins@fpinstitute.org</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lombardi</LastName><ForeName>Roni Q</ForeName><Initials>RQ</Initials></Author><Author ValidYN="Y"><LastName>Pucilowska</LastName><ForeName>Joanna</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Golbe</LastName><ForeName>Lawrence I</ForeName><Initials>LI</Initials></Author><Author ValidYN="Y"><LastName>Verhagen</LastName><ForeName>Leo</ForeName><Initials>L</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 NS39353</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C503777">HS1BP3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</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="D002889">Chromosomes, Human, Pair 2</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017931">DNA Primers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></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="D014644">Genetic Variation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</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="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011187">Posture</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>10</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>8</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>10</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20692</ArticleId><ArticleId IdType="pubmed">16211613</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li><li>État de New York</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><noCountry><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence" last="Golbe">Lawrence. Golbe</name><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni" last="Lombardi">Roni. Lombardi</name><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph" last="Higgins">Joseph. Higgins</name></region><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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