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Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1
Author(s) -
HENSKE E. P.,
SHORT M. P.,
JOZWIAK S.,
BOVEY C. M.,
RAMLAKHAN S.,
HAINES J. L.,
KWIATKOWSKI D. J.
Publication year - 1995
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1995.tb01603.x
Subject(s) - tuberous sclerosis , tsc1 , gene , identification (biology) , genetics , biology , tsc2 , medicine , pathology , pi3k/akt/mtor pathway , apoptosis , botany
Summary 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.