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A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease  Ana Vega, Josema Torres, María Torres, José Cameselle-teijeiro,

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Presentation on theme: "A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease  Ana Vega, Josema Torres, María Torres, José Cameselle-teijeiro,"— Presentation transcript:

1 A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease 
Ana Vega, Josema Torres, María Torres, José Cameselle-teijeiro, Manuel Macia, Ángel Carracedo, Rafael Pulido  Journal of Investigative Dermatology  Volume 121, Issue 6, Pages (December 2003) DOI: /j x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Nucleotide sequence of a fragment of exon 2 of the PTEN gene containing the variant (arrow). (A) Wild-type sequence. (B) Heterozygous mutation N48K. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 PTEN protein inter and intra specific homologies. (A) PTEN phosphatase domain amino acid sequence homology across species. Sequence homologies are underlined. Aspargine at codon 48 is indicated with a verticle rectangle. In C. elegans an insertion is indicated with a line and the amino acid letter. (B) Phosphatase domain amino acid sequence homology between human PTEN and human phosphatases TPTE and TPIP. Codon 48 is indicated with an arrow. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Phospho-active PKB/Akt in the presence of PTEN wild-type or mutations. U87MG cells were transfected with pSG5 HA-PKB/Akt plus pRK5 vector alone (mock) or pRK5 PTEN wild-type (w.t.) or mutations, as indicated. In lanes 5–8, pEF-BOS-Ras V12 was cotransfected. After 48 h, cells were lyzed and HA-PKB/Akt was immunoprecipitated with the anti-HA 12CA5 monoclonal antibody, followed by immunoblotting with the antiphospho-PKB (Ser473) antibody (middle panel). After stripping of the membrane, immunoblotting with anti-PKB/Akt was performed (lower panel). In the upper panel, 50 μg of total cell lysate were loaded and subjected to immunoblotting with anti-PTEN antibody. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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