Abstract
Blue cone pigment (BCP) is one of three types of cone photoreceptors responsible for normal colour vision. In this study, the BCP gene has been localised to chromosome 7q31.3-32 by fluorescent in situ hybridisation of cosmid clones containing the gene. This is consistent with previous mapping of the BCP gene to chromosome 7q31-35.
This is a preview of subscription content, log in via an institution to check access.
References
Bresnick GH, Smith VC, Pokorny J (1989) Autosomal dominant inherited macular dystrophy with preferential short wavelength sensitive cone involvement. Am J Ophthalmol 108:265–276
Cachon-Gonzalez B (1991) Linkage analysis in familial adenomatous polyposis families in the United Kingdom, and a search for highly polymorphic markers. Ph. D. Thesis, University College, London
Donis-Keller, Helms C, Green P, Riethman H, Ramachandra S, Falls K, Bowden DW, Weiffenbach B, Keith T, Stephens K, Cannizzaro LA, Shows TB, Stewart GD, Van Keuren M (1989) A human genome linkage map with more than 500 RFLP loci and average spacing of 6 centiMorgans. Cytogenet Cell Genet 51:991
Dryja TP, McGee TL, Reichel E, Hahn IB, Cowley GS, Yadell DW, Sandberg MA, Berson EL (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 361–366
Feil R, Aubourg P, Heilig R, Mandel JL (1990) A 195 kb cosmid walk encompassing the human Xq28 colour vision genes. Genomics 6:367–373
Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS (1991) A 3-bp delection in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet 48:26–30
Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils DM, Kumar-Singh R, Sharp EM, Soriano N, Ayuso C, Benitez J, Humphries P (1993) Localisation of an autosomal dominant re-tinitis pigmentosa gene to chromosome 7q. Nature Genet 4: 54–58
Nathans J, Piantanida TP, Eddy RL, Shows T, Hogness DS (1986) Molecular genetics of inherited variations in human colour vision. Science 232:203–210
Nathans J, Thomas D, Hogness DS (1986) Molecular genetics of human colour vision: the genes encoding blue, green, and red pigments. Science 232:193–202
Pinkel D, Straume T, Gray JM (1986) Cytogenetic analysis using quantitative high sensitivity fluorescent hybridisation. Proc Natl Acad Sci USA 83:2934–2938
Reichel E, Bruce AM, Sandberg MA, Berson EL (1989) An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol 108:885–895
Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM (1991) Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gel electrophoresis. Am J Hum Genet 49:699–706
Sung C, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J 1991 Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA: 6481-6485
Went LN, Schooneveld MJ van, Oosterhuis JA (1992) Late onset dominant cone dystrophy with early blue cone involvement. J Med Genet 29:295–298
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fitzgibbon, J., Appukuttan, B., Gayther, S. et al. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. Hum Genet 93, 79–80 (1994). https://doi.org/10.1007/BF00218919
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00218919