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Loss of Function HH Mutations in Dorsophila: Sonic Hedgehog SHH
Loss of Function HH Mutations in Dorsophila: Sonic Hedgehog SHH
_
PKA
CK1
GSK3 Slimb
p p
Ci
Cos2 p p Fu
Smoothened
Proteasomal
degradation
Fu Kinase Ci75
Cos2 (costal) kinesin related motor
protein
_
Nucleus
P
P
Cos2
P P
P P
Fu
P
Ci
CBP
Patched
Wnt
Nucleus Myc
Regulation of Hh signalling
Tuncation in the the actiavtor region of the GLI3 protein results in makin
it function like a repressor resulting in formation of extra digits and
poor development of Pitutary gland,
Hypothalamus, anus and kidenys and the infants die soon after birth
( Pallister-Hall syndrome)