Genetic and physical mapping of human recoverin: a gene expressed in retinal photoreceptors

• Published in: Investigative ophthalmology & visual science Vol. 35; no. 2; pp. 325 - 331
• Main Authors: Wiechmann, AF, Akots, G, Hammarback, JA, Pettenati, MJ, Rao, PN, Bowden, DW
• Format: Journal Article
• Language: English
• Published: Rockville, MD ARVO 01.02.1994; Association for Research in Vision and Ophtalmology
• Subjects: Base Sequence; Biological and medical sciences; Calcium-Binding Proteins - genetics; Calcium-Binding Proteins - metabolism; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 17 - metabolism; Cosmids; DNA Probes; Eye Proteins; Gene Expression; Hippocalcin; Humans; Hybrid Cells; In Situ Hybridization, Fluorescence; Lipoproteins; Medical sciences; Molecular Sequence Data; Nerve Tissue Proteins; Ophthalmology; Photoreceptor Cells - metabolism; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Recoverin; Repetitive Sequences, Nucleic Acid; Retina - metabolism; Retinopathies; Genetic mapping; Human; Retinopathy; Family study; Retinitis pigmentosa; Photoreceptor; Exploration; Retina; Gene expression; Genetic disease; Eye disease; Genetics; Molecular biology
• ISSN: 0146-0404; 1552-5783

Recoverin is a calcium-binding protein that may be involved in phototransduction in mammalian retinal photoreceptors, and is considered to be a candidate gene for retinitis pigmentosa. This study was undertaken to develop the recoverin locus into a polymorphic marker for future linkage studies on retinitis pigmentosa families. A human genomic cosmid clone was isolated and used to map the recoverin gene to a human chromosome through hybridization to a panel of somatic hybrid cell line DNAs, and to human metaphase chromosomes by fluorescence in situ hybridization. A dinucleotide repeat polymorphism located within the coding region of the recoverin gene was identified, and used to genetically map the recoverin gene relative to index markers. In addition, three restriction fragment length polymorphisms revealed by the cosmid clone were identified and characterized. Hybridization to the somatic hybrid cell line DNAs localized the recoverin gene to chromosome 17. Recoverin was further localized to 17p12-p13 by fluorescence in situ hybridization. The dinucleotide repeat polymorphism and restriction fragment length polymorphisms at the recoverin locus have a cumulative polymorphic information content = 0.71. These polymorphic markers and additional closely linked markers will be useful for linkage analysis of families with retinitis pigmentosa.