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Open AccessArticle
Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat
by
Marie Abitbol
Marie Abitbol 1,2,*
,
Caroline Dufaure de Citres
Caroline Dufaure de Citres 3
,
Gabriela Rudd Garces
Gabriela Rudd Garces 4,
Gesine Lühken
Gesine Lühken 5,
Leslie A. Lyons
Leslie A. Lyons
Dr. Leslie A. Lyons is the Gilbreath McLorn Endowed Professor of Comparative Medicine at
the of of [...]
Dr. Leslie A. Lyons is the Gilbreath McLorn Endowed Professor of Comparative Medicine at
the University of Missouri, College of Veterinary Medicine. She received her
PhD degree from the University of Pittsburgh. Dr. Lyons was trained in human
genetics, and her postdoctoral fellowship focused on developing genetic
resources for comparative gene mapping across mammalian species. Her research
is currently primarily focused on heritable diseases and traits and the population
dynamics of the domestic cat. Specific diseases remain of high priority,
including polycystic kidney disease (PKD), skin abnormalities, structural
defects, and heritable blindness. An expectation of the research is to develop
drug and gene therapies and translational efforts, for one or more of these
abnormalities to better develop the cat as an animal model for human disease.
Dr. Lyons has also supported the community by providing DNA studies for the
first cloned domestic cat, wildcat, and sand cat and the GFP transgenic cat.
Her laboratory has identified over 30 mutations in over 20 genes, including many
diseases, several coat colors, several fur types, and cat AB/B blood type. She
recently launched the 99 Lives Cat Genome Sequencing Initiative: an effort to
have deep coverage sequencing of cats with inherited diseases and as an SNP
resource for the community.
6 and
Vincent Gache
Vincent Gache 2
1
Univ Lyon, VetAgro Sup, 69280 Marcy-l’Etoile, France
2
Institut NeuroMyoGène INMG-PNMG, CNRS UMR5261, INSERM U1315, Faculté de Médecine, Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France
3
Antagene, 69890 La Tour de Salvagny, France
4
Generatio GmbH, 69115 Heidelberg, Germany
5
Institute of Animal Breeding and Genetics, Justus Liebig University Giessen, 35390 Giessen, Germany
6
Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
*
Author to whom correspondence should be addressed.
Submission received: 4 June 2024
/
Revised: 18 June 2024
/
Accepted: 19 June 2024
/
Published: 21 June 2024
Simple Summary
Aesthetic traits are major components of modern feline breeds. Each breed is defined by a standard specifying morphology; coat length, texture, and colour; and eye colour. Considering the coat and eye colour may help breeders in managing their breeding stocks to optimise their mating, but it also has an impact on the health and well-being of cats. Indeed, some colours and patterns may be associated with deleterious traits. Recently, a new coat and eye pattern has been described in cats. It has been called “dominant blue eyes (DBE)” and includes one or two blue eyes or particolored eyes and minimal white spotting. Different feline breeding lines were developed for DBE, and in some lineages, deafness has been identified as being associated with this trait. The Altai and Topaz breeds were created using DBE founding cats found in Kazakhstan and Russia. The Celestial breed, recognised in France, was created using a DBE outbred male from Kazakhstan and British shorthair and longhair cats. Other breeds, including the Maine Coon, British, Persian, Siberian, Sphynx, and Munchkin cats, introduced DBE. We have previously identified two variants associated with DBE, and here, we report the discovery of a third DBE variant. Finally, we review the presence of the three DBE variants in 14 feline breeding lines.
Abstract
During the last twenty years, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Additionally, certain breeders introduced this trait in their lineages of purebred cats. The trait has been called “dominant blue eyes (DBE)” and was confirmed to be autosomal dominant in all lineages. DBE was initially described in outbred cats from Kazakhstan and Russia and in two purebred lineages of British cats from Russia, as well as in Dutch Maine Coon cats, suggesting different founding effects. We have previously identified two variants in the Paired Box 3 (PAX3) gene associated with DBE in Maine Coon and Celestial cats; however, the presence of an underlying variant remains undetermined in other DBE breeding lines. Using a genome-wide association study, we identified a single region on chromosome C1 that was associated with DBE in British cats. Within that region, we identified PAX3 as the strongest candidate gene. Whole-genome sequencing of a DBE cat revealed an RD-114 retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 (namely NC_018730.3:g.206975776_206975777insN[433]) known to contain regulatory sequences. Using a panel of 117 DBE cats, we showed that this variant was fully associated with DBE in two British lineages, in Altai cats, and in some other DBE lineages. We propose that this NC_018730.3:g.206975776_206975777insN[433] variant represents the DBEALT (Altai Dominant Blue Eye) allele in the domestic cat. Finally, we genotyped DBE cats from 14 lineages for the three PAX3 variants and showed that they were not present in four lineages, confirming genetic heterogeneity of the DBE trait in the domestic cat.
Share and Cite
MDPI and ACS Style
Abitbol, M.; Dufaure de Citres, C.; Rudd Garces, G.; Lühken, G.; Lyons, L.A.; Gache, V.
Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat. Animals 2024, 14, 1845.
https://0-doi-org.brum.beds.ac.uk/10.3390/ani14131845
AMA Style
Abitbol M, Dufaure de Citres C, Rudd Garces G, Lühken G, Lyons LA, Gache V.
Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat. Animals. 2024; 14(13):1845.
https://0-doi-org.brum.beds.ac.uk/10.3390/ani14131845
Chicago/Turabian Style
Abitbol, Marie, Caroline Dufaure de Citres, Gabriela Rudd Garces, Gesine Lühken, Leslie A. Lyons, and Vincent Gache.
2024. "Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat" Animals 14, no. 13: 1845.
https://0-doi-org.brum.beds.ac.uk/10.3390/ani14131845
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