OMIA 001245-9031 : Retinal degeneration I in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 204000

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1998

Species-specific name: GUCY1*

Species-specific symbol: Initially rc or rd; since 1999 the official symbol is GUCY1*

Species-specific description: This disorder is associated with a deficiency of guanylate cyclase activating protein-2 (GCAP2), resulting in abnormal activation of guanylate cyclase in photoreceptors, which in turn results in low levels of cGMP and an absence of phototransduction (Semple-Rowland et al. (1996). This deficiency is due to a null mutation in guanylate cyclase (Semple-Rowland et al., 1998)

History: The mutation was first reported by Cheng et al. (1980), then at the University of Minnesota, who gave it the symbol "rc" (for rod-cone absent). Noting that the disorder is actually characterised by photoreceptor cells that are normal at hatching but which degenerate with age, Ulshafer et al. (1984)(University of Florida) renamed the mutation "rd". These two symbols have been used in the literature. As explained by Semple-Rowland and Cheng (1999), Cheng moved his "rc" colony to the University of British Columbia in Vancouver in 1981; and also in the early 1980s, an "rd" colony was established at the University of Florida from a sample of Minnesota "rc" birds.

Inheritance: Cheng et al. (1980) provided evidence of autosomal recessive inheritance.

Molecular basis: By cloning and sequencing a very likely candidate gene on the basis of the physiology and biochemistry of the disorder in chickens, and on the homologous disorder in humans, Semple-Rowland et al. (1998) cloned and sequenced the chicken photoreceptor guanylate cyclase gene, and identified the causative mutation as an indel in that gene, resulting in a peptide that "is predicted to lack the membrane-spanning domain and the regions immediately flanking it, a region essential for proper folding and enzyme activity".

Semple-Rowland and Cheng (1999) showed that "both the rd and rc chickens carry the same GC1 null mutation", and proposed replacing the symbols "rd" and rc" with GUCY1*.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GC1 photoreceptor guanylate cyclase 1 Gallus gallus 13 NC_006100.5 (510100..524411) GC1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Rhode Island Red Retinal degeneration I GC1 complex rearrangement This allele is characterised by an 81bp insertion adjacent to a 642bp deletion 1998 9448321

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2013 Valdez, D.J., Nieto, P.S., Díaz, N.M., Garbarino-Pico, E., Guido, M.E. :
Differential regulation of feeding rhythms through a multiple-photoreceptor system in an avian model of blindness. FASEB J 27:2702-12, 2013. Pubmed reference: 23585397. DOI: 10.1096/fj.12-222885.
2001 Semple-Rowland, S.L., Tepedino, M., Coleman, J.E. :
Pinopsin mRNA levels are significantly elevated in the pineal glands of chickens carrying a null mutation in guanylate cyclase-1 Molecular Brain Research 97:51-58, 2001. Pubmed reference: 11744162.
1999 Larkin, P., Baehr, W., Semple-Rowland, S.L. :
Circadian regulation of iodopsin and clock is altered in the retinal degeneration chicken retina. Brain Res Mol Brain Res 70:253-63, 1999. Pubmed reference: 10407173.
Semple-Rowland, S.L., Cheng, K.M. :
rd and rc chickens carry the same GC1 null allele (GUCY1) Experimental Eye Research 69:579-581, 1999. Pubmed reference: 10548480. DOI: 10.1006/exer.1999.0743.
Semple-Rowland, S.L., Larkin, P., Bronson, J.D., Nykamp, K., Streit, W.J., Baehr, W. :
Characterization of the chicken GCAP gene array and analyses of GCAP1, GCAP2, and GC1 gene expression in normal and rd chicken pineal Molecular Vision 5:NIL_7-NIL_14, 1999.
1998 Huang, Y.J., Cideciyan, A.V., Papastergiou, G.I., Banin, E., Semple-Rowland, S.L., Milam, A.H., Jacobson, S.G. :
Relation of optical coherence tomography to microanatomy in normal and rd chickens Investigative Ophthalmology & Visual Science 39:2405-2416, 1998. Pubmed reference: 9804149.
Semple-Rowland, S.L., Lee, N.R., Van Hooser, J.P., Palczewski, K., Baehr, W. :
A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype Proceedings of the National Academy of Sciences of the United States of America 95:1271-1276, 1998. Pubmed reference: 9448321.
1996 Semple-Rowland, S.L., Gorczyca, W.A., Buczylko, J., Helekar, B.S., Ruiz, C.C., Subbaraya, I., Palczewski, K., Baehr, W. :
Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina FEBS Letters 385:47-52, 1996. Pubmed reference: 8641465.
1994 Semple-Rowland, S.L., Green, D.A. :
Molecular and Biochemical Analyses of Iodopsin in Rd Chick Retina Investigative Ophthalmology & Visual Science 35:2550-2557, 1994. Pubmed reference: 7512946.
Semple-Rowland, S.L., Green, D.A. :
Molecular characterization of the alpha'-subunit of cone photoreceptor cGMP phosphodiesterase in normal and rd chicken Experimental Eye Research 59:365-372, 1994. Pubmed reference: 7821382. DOI: 10.1006/exer.1994.1119.
1993 Maclachlan, I., Nimpf, J., White, H.B., Schneider, W.J. :
Riboflavinuria in the rd Chicken - 5'-Splice Site Mutation in the Gene for Riboflavin-Binding Protein Journal of Biological Chemistry 268:23222-23226, 1993. Pubmed reference: 8226844.
1992 Semple-Rowland, S.L., Vanderwel, H. :
Visinin - Biochemical and Molecular Comparisons in Normal and rd Chick Retina Biochemical and Biophysical Research Communications 183:456-461, 1992. Pubmed reference: 1339269.
1991 Semple-Rowland, S.L. :
Expression of glial fibrillary acidic protein by Müller cells in rd chick retina. J Comp Neurol 305:582-90, 1991. Pubmed reference: 2045537. DOI: 10.1002/cne.903050405.
1990 Ulshafer, R.J., Clausnitzer, E.L., Sherry, D.M., Szél, A., Röhlich, P. :
Immunocytochemical identification of outer segment proteins in the rd chicken. Exp Eye Res 51:209-16, 1990. Pubmed reference: 2387336.
1989 Semple-Rowland, S.L. :
Two-dimensional gel electrophoretic analysis of proteins in the rd chick retina. Prog Clin Biol Res 314:455-65, 1989. Pubmed reference: 2608673.
Semple-Rowland, S.L., Ulshafer, R.J. :
Analysis of proteins in developing rd (retinal degeneration) chick retina using two-dimensional gel electrophoresis. Exp Eye Res 49:665-75, 1989. Pubmed reference: 2806430.
1985 Ulshafer, R.J., Allen, C.B. :
Hereditary retinal degeneration in the Rhode Island Red chicken: ultrastructural analysis. Exp Eye Res 40:865-77, 1985. Pubmed reference: 4018169.
1984 Ulshafer, RJ., Allen, C., Dawson, WW., Wolf, ED. :
Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG. Exp Eye Res 39:125-35, 1984. Pubmed reference: 6489467.
1980 Cheng, K.M., Shoffner, R.N., Gelatt, K.N., Gum, G.G., Otis, J.S., Bitgood, J.J. :
An autosomal recessive blind mutant in the chicken. Poultry Science 59:2179–2181, 1980.

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