MBG 3050 Lecture Notes - Lecture 14: Neural Tube, Signal Transducing Adaptor Protein, Thanatophoric Dysplasia

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Rtk and ras-erk signal transduction pathway: ligand receptor tyrosine kinase (rtk) guanine nucleotide exchange factors (gef) swaps gdp for gtp (activating ras) Ras ras-gdp (inactive) > ras-gtp (active phosphorylates and activate raf. Gtpase activating protein (gap) hydrolyses ras-gtp to ras-gdp, inactivating it the pathway can be shut off by: Signalling by the kit rtk to microphthalmia-associated transcription factor (mitf): ligand = stem cell factor. Erk phosphorylates mitf allows for p300 to bind, target gene is transcribed. Steel mouse no steel, no stem cell factor (scf) no ligand for signalling. Albino mouse no tyrosinase (target gene not transcribed) the higher up in the pathway, the more widespread and severe the phenotype is. Human diseases with defects in neural crest cells: Piebaldism: haploinsufkicient, mutations in c-kit (receptor) discolouration on the tummy, also seen in mice. Waardenburg syndrome haploinsufkicient, mutations in mitf (tf) white fore-lock lady and daughter. Apert syndrome: altered afkinity of receptor for the ligand.

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