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. Author manuscript; available in PMC: 2024 Mar 1.
Published in final edited form as: Am J Med Genet A. 2023 Jan 4;191(3):794–804. doi: 10.1002/ajmg.a.63080

Figure 1. Perturbations in the Centriole Biogenesis Pathway are Known to Cause Primary Microcephaly. Adapted from (Sydor et al., 2018).

Figure 1

(A) Depiction of structural components of centriole in relation to PPP1R35. (B) Pathway utilized by centrosomal proteins functioning in centriole biogenesis. Proteins in green have been implicated in a known Mendelian disease (per OMIM) with a phenotype of microcephaly. Arrows indicate the progressive steps of centriole elongation. PLK4 phosphorylates STIL to interact with SAS6 and with CEP135 forms the centrosomal cartwheel. Following initial centriole formation, PPP1R35 and RTTN localize to the cartwheel where elongation will occur, and CPAP interacts with CEP120 and SPICE to regulate centriole elongation. CEP295 is recruited to the centriole and recruits POC1B and POC5 with subsequent addition of CEP152.