Elsevier

Genomics

Volume 79, Issue 5, May 2002, Pages 621-624
Genomics

Short Communication
A Class III Myosin Expressed in the Retina Is a Potential Candidate for Bardet-Biedl Syndrome

https://doi.org/10.1006/geno.2002.6749Get rights and content

Abstract

Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for human retinal disease. We have recently reported the cloning of MYO3A, a human myosin III expressed predominantly in the retina and retinal pigmented epithelium [1]. The map locus of MYO3A is close to, but does not overlap, that of human Usher's 1F [2]. Here we introduce a shorter class III myosin isoform, MYO3B, which is expressed in the retina, kidney, and testis. We describe the cDNA sequence, genomic organization, and splice variants of MYO3B expressed in the human retina. A product of 36 exons, MYO3B has several splice variants containing either one or two calmodulin binding (IQ) motifs in the neck domain and one of three predominant tail variations: a short tail ending just past the second IQ motif, or two alternatively spliced longer tails. MYO3B maps to 2q31.1-q31.2, a region that overlaps the locus for a Bardet-Biedl syndrome (BBS5) linked to markers at 2q31 [3].

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    Citation Excerpt :

    While no motor activity has been demonstrated for the two invertebrate class III myosins that have been studied (Hicks et al., 1996; Kempler et al., 2007), vertebrate class III myosins are molecular motors (Erickson et al., 2003; Komaba et al., 2003; Kambara et al., 2006; Dosé et al., 2007). Class III myosin transcripts have been detected in a variety of vertebrate tissues including retina, cochlea, brain, kidney, testes, intestine and pancreas (Dosé and Burnside, 2000, 2002; Walsh et al., 2002; Dosé et al., 2003). Although their specific functions are largely unknown and may differ in different cell types, much evidence suggests class III myosins are important for the normal function and maintenance of sensory cells.

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