A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
- 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, Vol. 41, Issue 3; Other Information: PBD: 1 May 1997
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
HUMAN CHROMOSOME 1
GENETIC MAPPING
MYOSIN
DNA-CLONING
DNA SEQUENCING
GENE REGULATION
TISSUE DISTRIBUTION
STRUCTURE-ACTIVITY RELATIONSHIPS
SENSE ORGANS DISEASES
ETIOLOGY
PATIENTS
HEREDITARY DISEASES
AMINO ACID SEQUENCE
PROTEINS
IN-SITU HYBRIDIZATION
FLUORESCENCE
RETINA
PROBES
NUCLEOTIDES