Characterizing Variants of Unknown Significance of the PTEN tumour suppressorHomolog DAF-18

Insulin and insulin-like growth factor signaling (IIS) is an anabolic pathway conserved among humans and Caenorhabditis elegans . In humans, the tumour suppressor protein Phosphatase and Tensin Homolog (PTEN) inhibits IIS, preventing excessive growth. PTEN variants are associated with disease, but h...

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Detalles Bibliográficos
Autores principales: Ermakova, Glafira, Hou, Chadwick, Boudreau, Jeffrey, Bendena, William G, Chin-Sang, Ian D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Caltech Library 2022
Materias:
New Finding
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748723/
https://www.ncbi.nlm.nih.gov/pubmed/36530472
http://dx.doi.org/10.17912/micropub.biology.000689
Descripción
Sumario:Insulin and insulin-like growth factor signaling (IIS) is an anabolic pathway conserved among humans and Caenorhabditis elegans . In humans, the tumour suppressor protein Phosphatase and Tensin Homolog (PTEN) inhibits IIS, preventing excessive growth. PTEN variants are associated with disease, but how they affect PTEN function is not well understood. Here, we characterized variants of unknown significance (VUSs) implicated in autism spectrum disorder by studying homologous mutations in the C. elegans protein DAF-18 to infer how they play a role in human disease.We found that variants D66E and L115V are likely benign, H168Q is intermediate while variants H138R and T176I are likely pathogenic.

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