Simanshu, D. K., Nissley, D. V. & McCormick, F. RAS proteins and their regulators in human disease. Cell 170, 17–33 (2017).
CAS PubMed PubMed Central Article Google Scholar
Yaeger, R. & Corcoran, R. B. Targeting alterations in the RAF–MEK pathway. Cancer Discov. 9, 329–341 (2019).
CAS PubMed PubMed Central Article Google Scholar
Longo, J. F. & Carroll, S. L. The RASopathies: biology, genetics and therapeutic options. Adv. Cancer Res 153, 305–341 (2022).
Lavoie, H. & Therrien, M. Regulation of RAF protein kinases in ERK signalling. Nat. Rev. Mol. Cell Biol. 16, 281–298 (2015).
CAS PubMed Article Google Scholar
Park, E. et al. Architecture of autoinhibited and active BRAF–MEK1–14-3-3 complexes. Nature 575, 545–550 (2019).
CAS PubMed PubMed Central Article Google Scholar
Simanshu, D. K. & Morrison, D. K. A structure is worth a thousand words: new insights for RAS and RAF regulation. Cancer Discov. 12, 899–912 (2022).
Tran, T. H. et al. KRAS interaction with RAF1 RAS-binding domain and cysteine-rich domain provides insights into RAS-mediated RAF activation. Nat. Commun. 12, 1176 (2021).
CAS PubMed PubMed Central Article Google Scholar
Cookis, T. & Mattos, C. Crystal structure reveals the full Ras–Raf interface and advances mechanistic understanding of Raf activation. Biomolecules 11, 996 (2021).
CAS PubMed PubMed Central Article Google Scholar
Molzan, M. et al. Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling. Mol. Cell. Biol. 30, 4698–4711 (2010).
CAS PubMed PubMed Central Article Google Scholar
Rodriguez-Viciana, P., Oses-Prieto, J., Burlingame, A., Fried, M. & McCormick, F. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. Mol. Cell 22, 217–230 (2006).
CAS PubMed Article Google Scholar
Young, L. C. et al. SHOC2–MRAS–PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. Proc. Natl Acad. Sci. USA 115, E10576–E10585 (2018).
CAS PubMed PubMed Central Article Google Scholar
Jeoung, M., Abdelmoti, L., Jang, E. R., Vander Kooi, C. W. & Galperin, E. Functional integration of the conserved domains of Shoc2 scaffold. PLoS ONE 8, e66067 (2013).
CAS PubMed PubMed Central Article Google Scholar
Cordeddu, V. et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat. Genet. 41, 1022–1026 (2009).
CAS PubMed PubMed Central Article Google Scholar
Hannig, V., Jeoung, M., Jang, E. R., Phillips, J. A. 3rd & Galperin, E. A novel SHOC2 variant in rasopathy. Hum. Mutat. 35, 1290–1294 (2014).
CAS PubMed PubMed Central Google Scholar
Motta, M. et al. Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. Hum. Mutat. 40, 1046–1056 (2019).
Young, L. C. et al. An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. Mol. Cell 52, 679–692 (2013).
CAS PubMed Article Google Scholar
Sulahian, R. et al. Synthetic lethal interaction of SHOC2 sepletion with MEK inhibition in RAS-driven cancers. Cell Rep. 29, 118–134 (2019).
CAS PubMed PubMed Central Article Google Scholar
Jones, G. G. et al. SHOC2 phosphatase-dependent RAF dimerization mediates resistance to MEK inhibition in RAS-mutant cancers. Nat. Commun. 10, 2532 (2019).
PubMed PubMed Central Article CAS Google Scholar
Kaplan, F. M. et al. SHOC2 and CRAF mediate ERK1/2 reactivation in mutant NRAS-mediated resistance to RAF inhibitor. J. Biol. Chem. 287, 41797–41807 (2012).
CAS PubMed PubMed Central Article Google Scholar
Terai, H. et al. SHOC2 is a critical modulator of sensitivity to EGFR-TKIs in non-small cell lung cancer cells. Mol. Cancer Res. 19, 317–328 (2021).
CAS PubMed Article Google Scholar
Boned Del Rio, I. et al. SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics. Proc. Natl Acad. Sci. USA 116, 13330–13339 (2019).
PubMed PubMed Central Article CAS Google Scholar
Han, K. et al. CRISPR screens in cancer spheroids identify 3D growth-specific vulnerabilities. Nature 580, 136–141 (2020).
CAS PubMed PubMed Central Article Google Scholar
Young, L. C. & Rodriguez-Viciana, P. MRAS: a close but understudied member of the RAS family. Cold Spring Harb. Perspect. Med. 8, a033621 (2018).
CAS PubMed PubMed Central Article Google Scholar
Kota, P. et al. M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. Proc. Natl Acad. Sci. USA 116, 3536–3545 (2019).
CAS PubMed PubMed Central Article Google Scholar
Higgins, E. M. et al. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight 2, e91225 (2017).
PubMed PubMed Central Article Google Scholar
Suzuki, H. et al. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. Am. J. Med. Genet. A 179, 1628–1630 (2019).
Verbinnen, I., Ferreira, M. & Bollen, M. Biogenesis and activity regulation of protein phosphatase 1. Biochem. Soc. Trans. 45, 89–99 (2017).
CAS PubMed Article Google Scholar
Korrodi-Gregorio, L., Esteves, S. L. & Fardilha, M. Protein phosphatase 1 catalytic isoforms: specificity toward interacting proteins. Transl. Res. 164, 366–391 (2014).
PubMed Article CAS Google Scholar
Peti, W., Nairn, A. C. & Page, R. Structural basis for protein phosphatase 1 regulation and specificity. FEBS J. 280, 596–611 (2013).
CAS PubMed Article Google Scholar
Bertola, D. et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. Am. J. Med. Genet. A 173, 824–828 (2017).
CAS PubMed Article Google Scholar
Gripp, K. W. et al. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am. J. Med. Genet. A 170, 2237–2247 (2016).
CAS PubMed PubMed Central Article Google Scholar
Huckstadt, V., Chinton, J., Gomez, A., Obregon, M. G. & Gravina, L. P. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. Am. J. Med. Genet A 185, 1256–1260 (2021).
Zambrano, R. M. et al. Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. Am. J. Med. Genet A 173, 565–567 (2017).
Snead, K., Wall, V., Ambrose, H., Esposito, D. & Drew, M. Polycistronic baculovirus expression of SUGT1 enables high-yield production of recombinant leucine-rich repeat proteins and protein complexes. Protein Expr. Purif. 193, 106061 (2022).
CAS PubMed Article Google Scholar
Selfors, L. M., Schutzman, J. L., Borland, C. Z. & Stern, M. J. soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling. Proc. Natl Acad. Sci. USA 95, 6903–6908 (1998).
CAS PubMed PubMed Central Article Google Scholar
Ye, M. et al. Crystal structure of M-Ras reveals a GTP-bound “off” state conformation of Ras family small GTPases. J. Biol. Chem. 280, 31267–31275 (2005).
CAS PubMed Article Google Scholar
Choy, M. S. et al. Understanding the antagonism of retinoblastoma protein dephosphorylation by PNUTS provides insights into the PP1 regulatory code. Proc. Natl Acad. Sci. USA 111, 4097–4102 (2014).
留言 (0)