Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd)

Experimental Eye Research
K E GroppG D Aguirre

Abstract

We have used immunocytochemistry and in situ hybridization to examine the expression of photoreceptor specific genes in retinas of normal dogs and those affected with hereditary cone degeneration (cd), a rare autosomal recessive disorder that selectively affects cones. In the cd retina, cone disease begins early in life; cones are lost by extrusion of the nucleus into the inner segment, and later by displacement of the nucleus, surrounded by a thin rim of cytoplasm, into the interphotoreceptor space. Two micrometer sections from the superior and inferior retinal meridians, extending from the optic disk to the ora serrata, were used for in situ hybridization with a bovine rod opsin and human red/green cone opsin cRNA probes, or were reacted with antibodies directed against photoreceptor-specific proteins and visualized with appropriate biotinylated antibodies. Antibodies against the following proteins were used: alpha- and beta 3-transducins, phosducin, alpha/beta- and gamma-phosphodiesterases, COS-1, and OS-2, opsin, S-antigen and IRBP. Immunoreactivity or hybridization labeling was evaluated in unstained sections; cone pathology was judged in adjacent Toluidine Blue-stained sections. With these methods it was possible to evalu...Continue Reading

Citations

Apr 10, 2010·Human Molecular Genetics·András M KomáromyGustavo D Aguirre
May 20, 2003·Veterinary Ophthalmology·Simon D HurnRobin G Stanley
Jan 20, 2005·European Journal of Human Genetics : EJHG·Susanne KohlBernd Wissinger
Oct 17, 1998·Eye·S M Petersen-Jones
Jul 7, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Keri L NowendKeith E Murphy
Apr 10, 2013·Molecular Therapy : the Journal of the American Society of Gene Therapy·András M KomáromyGustavo D Aguirre
May 16, 1998·Brain Research. Molecular Brain Research·M von SchantzD B Farber
Jan 8, 2011·Ophthalmology·Mervyn G ThomasIrene Gottlob
Aug 6, 2002·Survey of Ophthalmology·Sascha FauserFrank Schüttauf

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