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Abstract
Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned
to chromosomes 9 and 16. Using pulsed-field gel electrophoresis (PFGE), we identified
five TSC-associated deletions at 16p13.3. These were mapped to a 120 kb region that
was cloned in cosmids and from which four genes were isolated. One gene, designated
TSC2, was interrupted by all five PFGE deletions, and closer examination revealed
several intragenic mutations, including one de novo deletion. In this case, Northern
blot analysis identified a shortened transcript, while reduced expression was observed
in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5 kb TSC2
transcript is widely expressed, and its protein product, tuberin, has a region of
homology to the GTPase-activating protein GAP3.