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Eur J Hum Genet. 2005 Jan;13(1):59-68.

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

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  • 1Department of Clinical Genetics, Erasmus MC, 3015 GE Rotterdam, The Netherlands.


Tuberous sclerosis is an autosomal dominant human disorder caused by inactivating mutations to either the TSC1 or TSC2 tumour suppressor gene. Hamartin and tuberin, the TSC1 and TSC2 gene products, interact and the tuberin-hamartin complex inhibits cell growth by antagonising signal transduction to downstream effectors of the mammalian target of rapamycin (mTOR) through the small GTPase rheb. Previously, we showed that pathogenic tuberin amino-acid substitutions disrupt the tuberin-hamartin complex. Here, we investigate how these mutations affect the role of tuberin in the control of signal transduction through mTOR. Our data indicate that specific amino-acid substitutions have distinct effects on tuberin function.

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