Germ-line and somatic PTPN11 mutations in human disease.

摘要: Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses extracellular stimuli, its deregulation frequently drives aberrant proliferation, survival and/or differentiation. SHP-2 cytoplasmic Src-homology 2 domain-containing tyrosine phosphatase that plays an important role in signaling required during development hematopoiesis. Germ-line missense mutations PTPN11, the gene coding SHP-2, have been discovered as molecular event underlying Noonan syndrome, autosomal dominant trait characterized by short stature, dysmorphic facies, congenital heart defects, well other closely related developmental disorders. More recently, distinct class same has identified occur somatic contributing myeloid lymphoid malignancies. This review focuses on signal transduction, hematopoiesis, consequences gain-of-function.