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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Figure 5

A simplified scheme to illustrate the dual roles played by KIF7 in Indian Hedgehog (IHh) signaling and chondrocytes development. In chondrocytes Hedgehog (Hh) signaling pathway is initiated by the IHh ligand binding to PTC, which releases the inhibition of SMO. KIF7 positively modulates IHh pathway activity during development through downregulation of SUFU (indicated by thin straight line). SUFU is a known negative regulator of IHh pathway that prevents GLI-mediated transcription for the genes responsible for chondrocytes proliferation and differentiation during development. In the absence of KIF7, SUFU becomes uninhibited and exerts higher levels of suppression on GLI-mediated transcription (indicated by thick straight line). In the absence of SUFU, KIF7 negatively regulates IHh signaling to a lesser extent by inhibiting GLI-mediated transcription by undefined mechanism (indicated by dashed line). ECM: extracellular matrix. Adapted from Hsu et al.[19].

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