Disease relevance of MYO3A

• In an extended Israeli family, nonsyndromic progressive hearing loss is caused by three different recessive, loss-of-function mutations in myosin IIIA [1].
• We examined the kinetic properties of baculovirus expressed human myosin IIIA containing the kinase, motor, and two IQ domains [2].

High impact information on MYO3A

• Expression of mammalian myosin IIIA is highly restricted, with the strongest expression in retina and cochlea [1].
• Myosin IIIA is specifically expressed in photoreceptors and cochlea and is important for the phototransduction and hearing processes [2].
• Myosin IIIA is expressed in photoreceptor cells and thought to play a critical role in phototransduction processes, yet its function on a molecular basis is largely unknown [3].
• The present results suggest that myosin IIIA can spend a majority of its ATP hydrolysis cycling time on actin [3].
• We have recently reported the cloning of MYO3A, a human myosin III expressed predominantly in the retina and retinal pigmented epithelium [1] [4].

Biological context of MYO3A

• A somatic hybrid panel PCR screen localized MYO3A to human chromosome 10, and a radiation hybrid screen further localized it proximal to marker D10S197, which is located at 10p11.1 on the human cytogenetic map [5].

Anatomical context of MYO3A

• Since mutations in NINAC have been shown to alter the photoresponse and compromise photoreceptor survival, the human homologue MYO3A may also play a role in photoreceptor function and/or maintenance [5].
• We report the cloning and chromosomal localization of a human class III myosin, MYO3A, from retina and a retinal pigment epithelial cell line [5].

Analytical, diagnostic and therapeutic context of MYO3A

• On Northern blots, MYO3A probes detected a 6 [5].

References