title: Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.
abstract: A novel widely expressed homologue of the VAV oncogene, VAV2 (53% identical residues), has been identified within the critical region for the tuberous sclerosis gene, TSC1, on human chromosome 9q34. By Southern blot analysis, analysis of allele-specific transcription, and direct sequencing of the VAV2 mRNA/cDNA from patient lymphoblastoid cell lines, we demonstrate that both alleles of this gene are expressed in TSC patients and there are no significant mutations. VAV consists of a novel array of signalling domains and is thought to play an important role in signal transduction in haematopoietic tissues where it is exclusively expressed. VAV2 is likely to serve a similar role more generally in mammalian cells, but is not the TSC1 gene.
authors.affiliation: Division of Experimental Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: E P
authors.initials: EP
authors.lastname: Henske
authors.forename: M P
authors.initials: MP
authors.lastname: Short
authors.forename: S
authors.initials: S
authors.lastname: Jozwiak
authors.forename: C M
authors.initials: CM
authors.lastname: Bovey
authors.forename: S
authors.initials: S
authors.lastname: Ramlakhan
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D015513:Oncogene Proteins / Q000235:genetics*; D009857:Oncogenes; D009928:Organ Specificity; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051567:Proto-Oncogene Proteins c-vav; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014402:Tuberous Sclerosis / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D018076:DNA, Complementary; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D051567:Proto-Oncogene Proteins c-vav; C496618:VAV1 protein, human; C093651:VAV2 protein, human