Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34
- Univ. of Cambridge (United Kingdom)
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. 28 refs., 5 figs.
- OSTI ID:
- 466658
- Journal Information:
- Genomics, Vol. 33, Issue 3; Other Information: PBD: 1 May 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
HUMAN CHROMOSOME 9
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
MENTAL DISORDERS
GENES
DNA-CLONING
METHYLATION
GENE MUTATIONS
TRANSCRIPTION
AMINO ACID SEQUENCE
PROBES
ELECTROPHORESIS
BANDING TECHNIQUES
DOMINANT MUTATIONS
DNA HYBRIDIZATION
BIOLOGICAL MARKERS
COSMIDS