Functional characterization of the SAS-4-related protein CPAP in centrosome biology of human cells

Kohlmaier, Gregor

doi:10.5075/epfl-thesis-4491

Cited by 1 publication

(1 citation statement)

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“…( B ) Schematic of representative centrosome and spindle proteins mutated in microcephaly. Protein domains and regions of interactions are depicted based on studies by Gillingham and Munro (2000) , Kohlmaier (2009) , Carvalho-Santos et al (2010) , Hatch et al (2010) , Holland et al (2010) , Van Breugel et al (2011) , Issa et al (2013) , Kim et al (2013) , Lin et al (2013) , Sonnen et al (2013) , Arquint et al (2015) , Mori et al (2015) , Chen et al (2017) , and Patwardhan et al (2018) . (SMC-A/B) Structural maintenance of chromosomes (SMC)-like domain A/B, (PBD) polo-box domain, (CR1/2) conserved region 1/2, (CC) coiled-coil region, (STAN) Stil/Ana2 domain, (PISA) present in SAS-6, (TCP) T complex protein 10 domain, (CH) calponin homology domain, (MBD) MKK7β1 binding domain, (JBD) JNK binding domain, (LHD) loop helix domain.…”

Section: The Molecular Genetics Of Primary Microcephalymentioning

confidence: 99%

Time is of the essence: the molecular mechanisms of primary microcephaly

Phan

Holland

2021

Genes Dev.

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Primary microcephaly is a brain growth disorder characterized by a severe reduction of brain size and thinning of the cerebral cortex. Many primary microcephaly mutations occur in genes that encode centrosome proteins, highlighting an important role for centrosomes in cortical development. Centrosomes are microtubule organizing centers that participate in several processes, including controlling polarity, catalyzing spindle assembly in mitosis, and building primary cilia. Understanding which of these processes are altered and how these disruptions contribute to microcephaly pathogenesis is a central unresolved question. In this review, we revisit the different models that have been proposed to explain how centrosome dysfunction impairs cortical development. We review the evidence supporting a unified model in which centrosome defects reduce cell proliferation in the developing cortex by prolonging mitosis and activating a mitotic surveillance pathway. Finally, we also extend our discussion to centrosome-independent microcephaly mutations, such as those involved in DNA replication and repair.

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