Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)
| Autor: | Jacqueline W. Pearce, Christopher B. Kaelin, Tosso Leeb, Holly C. Beale, Hannes Lohi, Leilani J. Castaner, Rebecca E.H. Whiting, William K. Suedmeyer, Wesley C. Warren, Adam R. Boyko, Niels C Pedersen, Marta Castelhano, Dorian J. Garrick, N. Matthew Ellinwood, Annie Oh, William F. Swanson, Michael J. Montague, Michael Selig, Max F. Rothschild, Erica K. Creighton, Patricia P. Chan, Karen A. Terio, Paulo C. Alves, Leslie A. Lyons, John S. Munday, Rory J. Todhunter, Richard Malik, Gregory S. Barsh, Maria Longeri, William J. Murphy, Christopher R Helps, Danielle Aderdein, Ann P. Bosiack, Barbara Gandolfi, Ellen B. Belknap |
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| Přispěvatelé: | Medicum, Research Programme for Molecular Neurology, Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics, Veterinary Biosciences, Research Programs Unit |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Retinal degeneration Physiology 413 Veterinary science Cat Diseases Eye DISEASE Felis nigripes TEAR PRODUCTION PERSIAN CATS Mydriasis 2.1 Biological and endogenous factors Aetiology 610 Medicine & health MUTATION Progressive retinal atrophy Multidisciplinary CATS medicine.diagnostic_test biology Homozygote DEGENERATION Corrigenda Phenotype ROD CONE DYSPLASIA GENOME ABYSSINIAN CAT 590 Animals (Zoology) medicine.symptom Biotechnology RDY CAT Life on Land Article Lives Consortium 03 medical and health sciences Rare Diseases Retinal Diseases Genetics medicine Animals Eye Disease and Disorders of Vision Gene Genetic testing Whole Genome Sequencing Neurosciences medicine.disease biology.organism_classification 030104 developmental biology Cats 570 Life sciences GENE DISCOVERY Calmodulin-Binding Proteins Atrophy |
| Zdroj: | Scientific Reports Oh, A, Pearce, J W, Gandolfi, B, Creighton, E K, Suedmeyer, W K, Selig, M, Bosiack, A P, Castaner, L J, Whiting, R E H, Belknap, E B, Lyons, L A, Aderdein, D, Alves, P C, Barsh, G S, Beale, H C, Boyko, A R, Castelhano, M G, Chan, P, Ellinwood, N M, Garrick, D J, Helps, C R, Kaelin, C B, Leeb, T, Lohi, H, Longeri, M, Malik, R, Montague, M J, Munday, J S, Murphy, W J, Pedersen, N C, Rothschild, M F, Swanson, W F, Terio, K A, Todhunter, R J & Warren, W C 2017, ' Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) ', Scientific Reports, vol. 7, 43918 . https://doi.org/10.1038/srep43918 Scientific reports, vol 7, iss 1 Oh, Annie; Pearce, Jacqueline W; Gandolfi, Barbara; Creighton, Erica K; Suedmeyer, William K; Selig, Michael; Bosiack, Ann P; Castaner, Leilani J; Whiting, Rebecca E H; Belknap, Ellen B; Lyons, Leslie A; 99 Lives, Consortium (2017). Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Scientific Reports, 7(43918), p. 43918. Nature Publishing Group 10.1038/srep43918 |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/srep43918 |
| Popis: | African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management. |
| Databáze: | OpenAIRE |
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