Journal
CELLS
Volume 9, Issue 6, Pages -Publisher
MDPI
DOI: 10.3390/cells9061458
Keywords
MYH9; myosin; actin; macrothrombocytopenia; filament; motor activity; polymerization
Categories
Funding
- Programa de Apoyo a Planes Estrategicos de Investigacion de Estructuras de Investigacion de Excelencia from the Castilla-Leon government [CLC-2017-01]
- FEDER funds
- MINECO [SAF2014-54705-R, SAF2017-87408-R]
- Ramon Areces Foundation [CIVP16A1831]
- BBVA Foundation [14-BBM-340]
- AECC [IDEAS-VICE18]
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TheMYH9gene encodes the heavy chain (MHCII) of non-muscle myosin II A (NMII-A). This is an actin-binding molecular motor essential for development that participates in many crucial cellular processes such as adhesion, cell migration, cytokinesis and polarization, maintenance of cell shape and signal transduction. Several types of mutations in theMYH9gene cause an array of autosomal dominant disorders, globally known asMYH9-related diseases (MYH9-RD). These include May-Hegglin anomaly (MHA), Epstein syndrome (EPS), Fechtner syndrome (FTS) and Sebastian platelet syndrome (SPS). Although caused by differentMYH9mutations, all patients present macrothrombocytopenia, but may later display other pathologies, including loss of hearing, renal failure and presenile cataracts. The correlation between the molecular and cellular effects of the different mutations and clinical presentation are beginning to be established. In this review, we correlate the defects thatMYH9mutations cause at a molecular and cellular level (for example, deficient filament formation, altered ATPase activity or actin-binding) with the clinical presentation of the syndromes in human patients. We address why these syndromes are tissue restricted, and the existence of possible compensatory mechanisms, including residual activity of mutant NMII-A and/or the formation of heteropolymers or co-polymers with other NMII isoforms.
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