title: Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34.
abstract: 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.
authors.affiliation: Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, United Kingdom.
authors.forename: R A
authors.initials: RA
authors.lastname: Furlong
authors.forename: C Y
authors.initials: CY
authors.lastname: Zhou
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D017173:Caenorhabditis elegans / Q000235:genetics; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D017124:Conserved Sequence; D017931:DNA Primers; D018076:DNA, Complementary; D005333:Fetus; D006801:Humans; D016547:Kinesins / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics*; D016366:Open Reading Frames; D010957:Plasmids; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D013572:Synaptic Vesicles / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; C094065:KIF1A protein, human; C490576:Kif1a protein, mouse; D009419:Nerve Tissue Proteins; D016547:Kinesins