Most human hereditary retinal degenerations can be classified as rod-cone degenerations (such as retinitis pigmentosa), cone-rod degenerations (exemplified by some cone dystrophies), and diseases affecting cones exclusively (i.e., cone degenerations) (Krill, 1977; Hamel, 2007; Simunovic and Moore, 1998). In these disorders the disease process is often difficult to analyze because its time-course is slow (many years) and tissues for morphologic, biochemical or molecular biology studies are not always available. Use of animal models of retinal degeneration and advanced biotechnology have helped to elucidate the cause of some of these diseases and the mechanisms by which mutated genes lead to blindness. In general, when there is widespread degeneration of rods, regardless of the selective or not selective expression of the gene product in these cells, there is a concomitant loss of cones.
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References
G. D. Aguirre and L. F. Rubin, Pathology of hemeralopia in the Alaskan malamute dog, Invest Ophthalmol. 13(3), 231–35 (1974).
N. B. Akhmedov, V. J. Baldwin, B. Zangerl, J.W. Kijas, L. Hunter, K. D. Minoofar, C. Mellersh, E. A. Ostrander, G. M. Acland, D. B. Farber and G. D. guirre, Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog, Mol Vis. 8, 79–84 (2002).
A. del Arco and J. Satrustegui, Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains, J Biol Chem. 279(23), 24701–13 (2004).
E. Chen, P. G. Soderberg and B. Lindstrom, Activity distribution of cytochrome oxidase in the rat retina. A quantitative histochemical study, Acta Ophthalmol. 67(6), 645–51 (1989).
G. Fiermonte, V. Dolce and F. Palmieri, Expression in Escherichia coli, functional characterization, and tissue distribution of isoforms A and B of the phosphate carrier from bovine mitochondria. J Biol Chem. 273(35), 22782–87 (1998).
C. P. Hamel, Cone rod dystrophies, Orphanet J Rare Dis. 2,7 (2007).
Q. V. Hoang, R. A. Linsenmeier, C. K. Chung and C. A. Curcio, Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation, Vis Neurosci. 19(4), 395–407 (2002).
G. H. Kageyama and M.T. Wong-Riley, The histochemical localization of cytochrome oxidase in the retina and lateral geniculate nucleus of the ferret, cat, and monkey, with particular reference to retinal mosaics and ON/OFF-center visual channels, J Neurosci. 4(10), 2445–59 (1984).
A. E. Krill, Rod-cone dystrophies, In: Krill’s Hereditary Retinal and Choroidal Diseases, edited by A. E. Krill and D. B. Archer, (Harper & Row, Hagerstown, 1977), pp. 479–644.
H. Mashima, N. Ueda, H. Ohno, J. Suzuki, H. Ohnishi, H. Yasuda, T. Tsuchida, C. Kanamaru, N. Makita, T. Iiri, M. Omata and I. Kojima, A novel mitochondrial Ca2+-dependent solute carrier in the liver identified by mRNA differential display, J Biol Chem. 278(11), 9520–27 (2003).
G. A. Perkins, M. H. Ellisman and D. A. Fox, Three-dimensional analysis of mouse rod and cone mitochondrial cristae architecture: Bioenergetic and functional implications, Mol Vis. 9, 60–73 (2003).
M. Saghizadeh, D. J. Brown, J. Tajbakhsh, Z. Chen, M. C. Kenney, D. B Farber and S. F. Nelson, Evaluation of techniques using amplified nucleic acid probes for gene expression profiling, Biomol Eng. 20(3), 97–106 (2003).
D. J. Sidjanin, J. K. Lowe, J. L. McElwee, B. S. Milne, T. M. Phippen, I. Sargan, G. D. Aguirre, G. M. Acland and E. A. Ostrander, Canine CNGB3 mutation established cone degeneration as orthologous to the human achromatopsia locus ACHM3, Hum Mol Genet. 11(16), 1823–33 (2002).
M. P. Simunovic and A.T. Moore, The cone dystrophies, Eye. 12(pt 3b), 553–65 (1998).
D. Yamashita, H. Komori, Y. Higuchi, T. Yamaguchi, T. Osumi and F. Hirose, Human DNA replication-related element binding factor (hDREF) self-association via hATC domain is necessary for its nuclear accumulation and DNA binding, J Biol Chem. 282(10), 7563–75 (2007).
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Saghizadeh, M., Akhmedov, N.B., Farber, D.B. (2008). Identification and Characterization of Genes Expressed in Cone Photoreceptors. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) Recent Advances in Retinal Degeneration. Advances in Experimental Medicine and Biology, vol 613. Springer, New York, NY. https://doi.org/10.1007/978-0-387-74904-4_27
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