What question did this study set out to answer?

To determine the extent of homology between tuberin and GTPase-activating proteins and screen for disease-causing mutations within the GAP-related domain of the TSC2 gene.

October 1, 1997Human Molecular Genetics

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

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Authors

MMMagitha M. MaheshwarUniversity Hospital of Wales JCJeremy P. CheadleCardiff University AJAdriane C. JonesUniversity of Southern California

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Implication

Genetic screening reveals clustering of missense mutations in the tuberin GAP-related domain in tuberous sclerosis, highlighting its critical role in regulating cellular growth.

Key Points

To determine the extent of homology between tuberin and GTPase-activating proteins and screen for disease-causing mutations within the GAP-related domain of the TSC2 gene.
Conducted comparative sequence homology analysis between human tuberin, human rap1GAP, and murine mSpa1.
Screened exons 34 to 38 of the TSC2 gene using single-strand conformation polymorphism analysis and direct sequencing in 173 unrelated tuberous sclerosis patients and family members.
Identified that the region of homology between tuberin, rap1GAP, and mSpa1 spans approximately 160 amino acid residues encoded within exons 34 to 38.
Characterised disease-associated mutations in 14 cases, with missense mutations occurring in exons 36, 37, and 38 identified in eight cases.
Found five distinct missense mutations occurring de novo in at least one sporadic case, with four cases sharing the recurrent P1675L mutation.

Cite This Study

Maheshwar et al. (1997) studied this question.

synapsesocial.com/papers/6a8a740ad88561daf2cc1026 https://doi.org/10.1093/hmg/6.11.1991

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Implication

Genetic screening reveals clustering of missense mutations in the tuberin GAP-related domain in tuberous sclerosis, highlighting its critical role in regulating cellular growth.

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

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Implication

Key Points

Cite This Study

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Discussion

Member takes

Implication

Key Points

Cite This Study

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