Source:http://linkedlifedata.com/resource/pubmed/id/10828619
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3-4
|
| pubmed:dateCreated |
2000-6-26
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| pubmed:databankReference | |
| pubmed:abstractText |
The human beta-tubulin supergene family consists of several isotypes with many associated pseudogenes. Here we report the identification of yet another beta-tubulin sequence designated TUBB4Q. This tubulin maps 80 kb proximal to the facioscapulohumeral muscular dystrophy (FSHD1) associated D4Z4 repeats on chromosome 4q35. The genomic structure contains four exons encoding a putative protein of 434 amino acids. The TUBB4Q nucleotide and protein sequence show 87% and 86% homology to beta2-tubulin, respectively. Although the genomic structure shows all functional aspects of a genuine gene, no transcript could be detected. TUBB4Q-related sequences were identified on multiple chromosomes. Since these sequences mutually exhibit a high nucleotide sequence homology, they presumably belong to a novel subfamily of beta-tubulin genes. Although the chromosome 4q35 tubulin-member probably represents a pseudogene, ectopic expression due to a postulated position effect variegation (PEV), makes TUBB4Q an ideal dominant-negative candidate gene for FSHD1.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:issn |
0301-0171
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2000 S. Karger AG, Basel
|
| pubmed:issnType |
Print
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| pubmed:volume |
88
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
316-21
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:10828619-Alleles,
pubmed-meshheading:10828619-Amino Acid Sequence,
pubmed-meshheading:10828619-Amino Acid Substitution,
pubmed-meshheading:10828619-Base Sequence,
pubmed-meshheading:10828619-Chromosomes, Human, Pair 4,
pubmed-meshheading:10828619-Cloning, Molecular,
pubmed-meshheading:10828619-Exons,
pubmed-meshheading:10828619-Genetic Linkage,
pubmed-meshheading:10828619-Humans,
pubmed-meshheading:10828619-Introns,
pubmed-meshheading:10828619-Molecular Sequence Data,
pubmed-meshheading:10828619-Multigene Family,
pubmed-meshheading:10828619-Muscular Dystrophy, Facioscapulohumeral,
pubmed-meshheading:10828619-Physical Chromosome Mapping,
pubmed-meshheading:10828619-Polymerase Chain Reaction,
pubmed-meshheading:10828619-Promoter Regions, Genetic,
pubmed-meshheading:10828619-Protein Structure, Tertiary,
pubmed-meshheading:10828619-Pseudogenes,
pubmed-meshheading:10828619-RNA, Messenger,
pubmed-meshheading:10828619-Telomere,
pubmed-meshheading:10828619-Tubulin
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35.
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| pubmed:affiliation |
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|