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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1996-9-20
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pubmed:databankReference |
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pubmed:abstractText |
In the search for candidate genes for the tuberous sclerosis (TSC1) disease locus on chromosome 9q34, we have isolated an overlapping series of 22 plasmid and phage cDNA clones covering nearly 7 kb and with an open reading frame of 5070 bp encoding a protein of 1690 amino acids. The putative protein product is a member of the kinesin superfamily and is homologous to the mouse KIF1A and the Caenorhabditas elegans unc-104 genes. Both KIF1A and unc-104 function in the anterograde axonal transport of synaptic vesicles. The human homolog is therefore termed H-ATSV (axonal transporter of synaptic vesicles, HGMW-approved nomenclature ATSV) Screening of DNA from 107 tuberous sclerosis patients and 80 unaffected individuals with H-ATSV cDNA probes by pulsed-field gel electrophoresis/Southern blotting following digestion by rare-cutting methylation-sensitive restriction enzymes showed variant banding patterns in three patients with tuberous sclerosis. However, further analysis indicated that these variant fragments represent a rare polymorphism probably associated with methylation of clustered restriction sites. There is no evidence to support H-ATSV as a candidate gene for TSC1.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0888-7543
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
421-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8661001-Amino Acid Sequence,
pubmed-meshheading:8661001-Animals,
pubmed-meshheading:8661001-Base Sequence,
pubmed-meshheading:8661001-Brain,
pubmed-meshheading:8661001-Caenorhabditis elegans,
pubmed-meshheading:8661001-Chromosome Mapping,
pubmed-meshheading:8661001-Chromosomes, Human, Pair 9,
pubmed-meshheading:8661001-Cloning, Molecular,
pubmed-meshheading:8661001-Conserved Sequence,
pubmed-meshheading:8661001-DNA, Complementary,
pubmed-meshheading:8661001-DNA Primers,
pubmed-meshheading:8661001-Fetus,
pubmed-meshheading:8661001-Humans,
pubmed-meshheading:8661001-Kinesin,
pubmed-meshheading:8661001-Mice,
pubmed-meshheading:8661001-Molecular Sequence Data,
pubmed-meshheading:8661001-Multigene Family,
pubmed-meshheading:8661001-Nerve Tissue Proteins,
pubmed-meshheading:8661001-Open Reading Frames,
pubmed-meshheading:8661001-Plasmids,
pubmed-meshheading:8661001-Polymerase Chain Reaction,
pubmed-meshheading:8661001-Sequence Homology, Amino Acid,
pubmed-meshheading:8661001-Synaptic Vesicles,
pubmed-meshheading:8661001-Tuberous Sclerosis
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pubmed:year |
1996
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pubmed:articleTitle |
Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34.
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pubmed:affiliation |
Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, United Kingdom.
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pubmed:publicationType |
Journal Article,
Comparative Study
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