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. Author manuscript; available in PMC: 2017 Jul 12.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2015 Apr 22;16:199–227. doi: 10.1146/annurev-genom-090314-045904

Figure 2. Cellular pathways disrupted in primordial dwarfism.

Figure 2

Most genes implicated in primordial dwarfism (MGS, MOPD I and II, Seckel syndrome, and SOFT syndrome) are involved in cell cycle regulation and cell division. These processes include primary ciliogenesis (G1 phase), DNA replication and centrosome duplication (S phase), DNA repair and centrosome maturation (G2 phase), and mitotic spindle formation and mitosis (M phase). Many of the genes function in more than one phase of the cell cycle. Some genes affect the rate of progression through the cell cycle, and some lead to aneuploidy, probably due to defects in DNA repair or mitotic spindle formation. In some cases, the cell cycle becomes disrupted after several rounds of cell division owing to disturbances in centriole duplication and/or maturation. All the processes shown involve replication and repair or maturation of the genome and the centrosome except RNU4ATAC. RNU4ATAC has a critical role in splicing, which could affect genes involved in cell cycle regulation or division. Abbreviations: MGS, Meier-Gorlin syndrome; MOPD, microcephalic osteodysplastic primordial dwarfism; MPD, microcephalic primordial dwarfism; SOFT, short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.