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
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
2045-2322 |
Publisher: |
Nature Publishing Group |
Language: |
English |
Submitter: |
Tosso Leeb |
Date Deposited: |
20 Sep 2019 14:36 |
Last Modified: |
13 Mar 2021 17:19 |
Publisher DOI: |
10.1038/srep43918 |
PubMed ID: |
28322220 |
Additional Information: |
Tosso Leeb: member of 99 Lives Consortium |
BORIS DOI: |
10.7892/boris.133171 |
URI: |
https://boris.unibe.ch/id/eprint/133171 |
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