A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping

Journal Article · Thu May 01 04:00:00 EDT 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1997.4682· OSTI ID:530731

Kubota, Ryo; Wang, Yimin; Kudoh, Jun ^[1]

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1. Keio Univ. School of Medicine, Tokyo (Japan); and others

We have isolated a human cDNA clone encoding a novel acidic protein of MW 55,000 that we designated {open_quotes}myocilin{close_quotes} since it has homology to myosin and is localized preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells. The deduced amino acid sequence of human myocilin showed significant homologies with nonmuscle myosin of Dictyostelium discoideum in the N-terminal region and also with olfactomedin of bullfrog in the C-terminal region. Myocilin contained a leucine zipper-like motif similar to that seen in kinectin and other cytoskeletal proteins. These findings suggest that myocilin is a novel cytoskeletal protein involved in the morphogenesis of ciliated neuroepithelium such as photoreceptor cells. The myocilin gene (MYOC) was mapped to human chromosome 1q23-q24 by fluorescence in situ hybridization. 33 refs., 7 figs.

• OSTI ID: 530731
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 41; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
DNA SEQUENCING
DNA-CLONING
ETIOLOGY
FLUORESCENCE
GENE REGULATION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
IN-SITU HYBRIDIZATION
MYOSIN
NUCLEOTIDES
PATIENTS
PROBES
PROTEINS
RETINA
SENSE ORGANS DISEASES
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION