MYH10

Cilia effects upon perturbation of MYH10

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.99) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased fasting circulating glucose level, abnormal skin coloration, abnormal pericardium morphology, preweaning lethality, complete penetrance, hemorrhage, embryonic growth retardation, edema, pretal lethality prior to heart atrial septation, abnormal placenta size

Human ciliopathy phenotype:

Heterozygous MYH10 variants cause broad spectrum of neurodevelopmental disorders and variable congenital anomalies affecting most organ systems (16 individuals).

Ciliopathy associations

• Neurodevelopmental Disorder with Congenital Anomalies

References: PMID:35980381

Subcellular localization

cilia, nucleus

References: PMID:25881509, PMID:25494100

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Regulators of the actin cytoskeleton. Required for centriole migration to the apical plasma membrane during the biogenesis of primary cilia. Regulates centrosomal recruitment of IFT88 required for ciliary tip structure (25881509). Required for pericentrosomal recruitment of Cep290, PCM- 1 and Rab11-positive recycling endosomes. It binds and antagonises Myh9 to increase actin dynamics and facilitate the assembly of the pericentrosomal preciliary complex that supplies materials for cilium growth and initiates ciliogenesis (25494100).