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Animals
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(Epi) Genetic Disorders in Companion Animals
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(Epi) Genetic Disorders in Companion Animals

A special issue of Animals (ISSN 2076-2615). This special issue belongs to the section "Veterinary Clinical Studies".

Deadline for manuscript submissions: closed (10 July 2021) | Viewed by 21293

Special Issue Editor

Dr. F.G. (Frank) Van Steenbeek

E-Mail Website
Guest Editor
1. Faculty of Veterinary Medicine, DEPT. CLINICAL SCIENCES, Utrecht University, Utrecht, The Netherlands
2. Division Heart & Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands
Interests: translational cardiovascular genomics

Special Issue Information

Dear Colleagues,

In the last couple of years, purebred cats and dogs are the subject of a public debate focusing on their health and welfare. By years of inbreeding and selecting for specific phenotypic characteristics these companion animals have become a magnifying glass for genetic disorders. Often these animals have been sold as a model for human genetic disorders.

In this special issue, we would like to focus on (epi)genetic diseases in veterinary medicine, specifically in companion animals. This Special Issue will illustrate current integrative research on mapping of genes, gene to phenotype association and disease-related differences in gene and protein expression. Contributions on any of these topics including original research papers and literature reviews, are welcome for this Special Issue.

Dr. F.G. (Frank) Van Steenbeek
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Animals is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular genetics
  • animal genetics
  • veterinary medicine
  • transcriptomics
  • proteomics
  • genome wide studies
  • companion animals
  • functional genomics

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Published Papers (6 papers)

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Research

Jump to: Review

17 pages, 568 KiB  
Article
Identification of a Novel Idiopathic Epilepsy Risk Locus and a Variant in the CCDC85A Gene in the Dutch Partridge Dog
by Evy Beckers, Sofie F. M. Bhatti, Mario Van Poucke, Ingeborgh Polis, Frédéric Farnir, Filip Van Nieuwerburgh, Paul Mandigers, Luc Van Ham, Luc Peelman and Bart J. G. Broeckx
Animals 2023, 13(5), 810; https://doi.org/10.3390/ani13050810 - 23 Feb 2023
Cited by 1 | Viewed by 3073
Abstract
(1) Idiopathic epilepsy (IE) is thought to have a genetic cause in several dog breeds. However, only two causal variants have been identified to date, and few risk loci are known. No genetic studies have been conducted on IE in the Dutch partridge [...] Read more.
(1) Idiopathic epilepsy (IE) is thought to have a genetic cause in several dog breeds. However, only two causal variants have been identified to date, and few risk loci are known. No genetic studies have been conducted on IE in the Dutch partridge dog (DPD), and little has been reported on the epileptic phenotype in this breed. (2) Owner-filled questionnaires and diagnostic investigations were used to characterize IE in the DPD. A genome-wide association study (GWAS) involving 16 cases and 43 controls was performed, followed by sequencing of the coding sequence and splice site regions of a candidate gene within the associated region. Subsequent whole-exome sequencing (WES) of one family (including one IE-affected dog, both parents, and an IE-free sibling) was performed. (3) IE in the DPD has a broad range in terms of age at onset, frequency, and duration of epileptic seizures. Most dogs showed focal epileptic seizures evolving into generalized seizures. A new risk locus on chromosome 12 (BICF2G630119560; praw = 4.4 × 10−7; padj = 0.043) was identified through GWAS. Sequencing of the GRIK2 candidate gene revealed no variants of interest. No WES variants were located within the associated GWAS region. However, a variant in CCDC85A (chromosome 10; XM_038680630.1: c.689C > T) was discovered, and dogs homozygous for the variant (T/T) had an increased risk of developing IE (OR: 6.0; 95% CI: 1.6–22.6). This variant was identified as likely pathogenic according to ACMG guidelines. (4) Further research is necessary before the risk locus or CCDC85A variant can be used for breeding decisions. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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12 pages, 1435 KiB  
Article
A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat
by Evy Beckers, Ine Cornelis, Sofie F. M. Bhatti, Pascale Smets, G. Diane Shelton, Ling T. Guo, Luc Peelman and Bart J. G. Broeckx
Animals 2022, 12(21), 2928; https://doi.org/10.3390/ani12212928 - 25 Oct 2022
Cited by 7 | Viewed by 2560
Abstract
(1) Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases [...] Read more.
(1) Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting. (2) Both cats were clinically examined and histopathology and immunofluorescent staining of the affected muscle was performed. DMD mRNA was sequenced to identify putative causal variants. (3) Both cats showed a significant increase in serum creatine kinase activity. Electromyography and histopathological examination of the muscle samples revealed abnormalities consistent with a dystrophic phenotype. Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C > T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree. (4) ddMD was described for the first time in the Maine coon and the c.1180C>T variant was confirmed as the causal variant. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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18 pages, 2771 KiB  
Article
A Questionnaire Survey on Long-Term Outcomes in Cats Breed-Screened for Feline Cardiomyopathy
by Anna Follby, Anna Pettersson, Ingrid Ljungvall, Åsa Ohlsson and Jens Häggström
Animals 2022, 12(20), 2782; https://doi.org/10.3390/ani12202782 - 15 Oct 2022
Cited by 1 | Viewed by 2285
Abstract
Feline cardiomyopathy (FCM) is an important contributor to feline morbidity and mortality. This explorative follow-up questionnaire study was aimed at investigating the long-term outcome in cats breed-screened for FCM (BS-FCM) in three Nordic countries. Records of cats with ≥1 BS-FCM between 2004–2015 were [...] Read more.
Feline cardiomyopathy (FCM) is an important contributor to feline morbidity and mortality. This explorative follow-up questionnaire study was aimed at investigating the long-term outcome in cats breed-screened for FCM (BS-FCM) in three Nordic countries. Records of cats with ≥1 BS-FCM between 2004–2015 were included. Of the 1113 included cats, 104/1113 (9.3%) had developed FCM at some time-point. Fifty-nine of the 104 (56.7%) FCM cats were diagnosed within the screening program (ScreenFCM), and 33/59 (55.9%) of these were diagnosed at the first BS-FCM. ScreenFCM cats or with an owner-reported FCM diagnosis at a later time-point had a higher risk of cardiac-related death compared to cats that never developed FCM. A shorter lifespan was found in ScreenFCM cats compared to those with normal screen results (p < 0.001). Times to all-cause mortality were shorter (p < 0.001) in cats that developed FCM at any time-point compared to those that did not. Non-cardiac morbidities were similar in all screen classification groups. The large proportion of cats that developed FCM at a later time-point underscores the need for repeated screenings later in life. Cats that developed FCM at any time-point had a shorter lifespan, with a similar proportion and in line with the nature of non-cardiac morbidities, compared to those without FCM. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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9 pages, 490 KiB  
Article
Genetic Aspects of Corneal Sequestra in a Population of Persian, Himalayan and Exotic Cats
by Tom Schipper, Goedele Storms, Gerlinde Janssens, Sabine Schoofs, Eveline Capiau, Dieter Verdonck, Pascale Smets, Luc J. Peelman and Bart J. G. Broeckx
Animals 2022, 12(15), 2008; https://doi.org/10.3390/ani12152008 - 8 Aug 2022
Cited by 3 | Viewed by 2120
Abstract
Corneal sequestra are ophthalmic lesions that are remarkably common in Persian, Himalayan and exotic cats. In this study, the genetic aspects of this disease were investigated in a population of cats originating from a single cattery. Odds ratios were calculated for parents with [...] Read more.
Corneal sequestra are ophthalmic lesions that are remarkably common in Persian, Himalayan and exotic cats. In this study, the genetic aspects of this disease were investigated in a population of cats originating from a single cattery. Odds ratios were calculated for parents with affected offspring. The heritability of (owner-reported) corneal sequestra was estimated with a Markov chain Monte Carlo procedure. Well-phenotyped cases and controls were used for a genome-wide association study. Data from 692 cats originating from the cattery, of which 61 were affected, were used. Cats from two specific mothers had significantly higher odds of developing corneal sequestra, but no significant effect of the fathers was found (after correction for the mothers). The heritability of corneal sequestra was estimated to be 0.96. A genome-wide association study with 14 cases and 10 controls did not reveal an associated chromosomal region. The large effect that genetic factors had on the development of corneal sequestra in this study suggests that selective breeding could be an effective way to reduce the prevalence of this condition in these cat breeds. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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Review

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18 pages, 3654 KiB  
Review
Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model
by Karen R. Gaar-Humphreys, Talitha C. F. Spanjersberg, Giorgia Santarelli, Guy C. M. Grinwis, Viktor Szatmári, Bernard A. J. Roelen, Aryan Vink, J. Peter van Tintelen, Folkert W. Asselbergs, Hille Fieten, Magdalena Harakalova and Frank G. van Steenbeek
Animals 2022, 12(13), 1679; https://doi.org/10.3390/ani12131679 - 29 Jun 2022
Cited by 6 | Viewed by 6623
Abstract
Cardiac disease is a leading cause of death for both humans and dogs. Genetic cardiomyopathies, including dilated cardiomyopathy (DCM), account for a proportion of these cases in both species. Patients may suffer from ventricular enlargement and systolic dysfunction resulting in congestive heart failure [...] Read more.
Cardiac disease is a leading cause of death for both humans and dogs. Genetic cardiomyopathies, including dilated cardiomyopathy (DCM), account for a proportion of these cases in both species. Patients may suffer from ventricular enlargement and systolic dysfunction resulting in congestive heart failure and ventricular arrhythmias with high risk for sudden cardiac death. Although canine DCM has similar disease progression and subtypes as in humans, only a few candidate genes have been found to be associated with DCM while the genetic background of human DCM has been more thoroughly studied. Additionally, experimental disease models using induced pluripotent stem cells have been widely adopted in the study of human genetic cardiomyopathy but have not yet been fully adapted for the in-depth study of canine genetic cardiomyopathies. The clinical presentation of DCM is extremely heterogeneous for both species with differences occurring based on sex predisposition, age of onset, and the rate of disease progression. Both genetic predisposition and environmental factors play a role in disease development which are identical in dogs and humans in contrast to other experimental animals. Interestingly, different dog breeds have been shown to develop distinct DCM phenotypes, and this presents a unique opportunity for modeling as there are multiple breed-specific models for DCM with less genetic variance than human DCM. A better understanding of DCM in dogs has the potential for improved selection for breeding and could lead to better overall care and treatment for human and canine DCM patients. At the same time, progress in research made for human DCM can have a positive impact on the care given to dogs affected by DCM. Therefore, this review will analyze the feasibility of canines as a naturally occurring bidirectional disease model for DCM in both species. The histopathology of the myocardium in canine DCM will be evaluated in three different breeds compared to control tissue, and the known genetics that contributes to both canine and human DCM will be summarized. Lastly, the prospect of canine iPSCs as a novel method to uncover the contributions of genetic variants to the pathogenesis of canine DCM will be introduced along with the applications for disease modeling and treatment. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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14 pages, 3014 KiB  
Review
COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders
by Ronald Jan Corbee and Louis C. Penning
Animals 2021, 11(3), 601; https://doi.org/10.3390/ani11030601 - 25 Feb 2021
Cited by 3 | Viewed by 3584
Abstract
Wilson’s Disease is a rare autosomal recessive disorder in humans, often presenting with hepatic copper overload. Finding the genetic cause of a rare disease, especially if it is related to food constituents like the trace element copper, is a Herculean task. This review [...] Read more.
Wilson’s Disease is a rare autosomal recessive disorder in humans, often presenting with hepatic copper overload. Finding the genetic cause of a rare disease, especially if it is related to food constituents like the trace element copper, is a Herculean task. This review describes examples of how the unique population structure of in-bred dog strains led to the discovery of a novel gene and two modifier genes involved in inherited copper toxicosis. COMMD1, after the discovery in 2002, was shown to be a highly promiscuous protein involved in copper transport, protein trafficking/degradation, regulation of virus replication, and inflammation. Mutations in the ATP7A and ATP7B proteins in Labrador retrievers and Dobermann dogs resulted in a wide variation in hepatic copper levels in these breeds. To our knowledge, numerous dog breeds with inherited copper toxicosis of unknown genetic origin exist. Therefore, the possibility that men’s best friend will provide new leads in rare copper storage diseases seems realistic. Full article
(This article belongs to the Special Issue (Epi) Genetic Disorders in Companion Animals)
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