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Animals
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Advances in Companion Animal Genetic Diseases
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Advances in Companion Animal Genetic Diseases

A special issue of Animals (ISSN 2076-2615). This special issue belongs to the section "Animal Genetics and Genomics".

Deadline for manuscript submissions: closed (7 July 2024) | Viewed by 12718

Special Issue Editor

Prof. Dr. Osamu Yamato

E-Mail Website
Guest Editor
Laboratory of Veterinary Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-0065, Japan
Interests: inherited or genetic diseases in animals; lysosomal storage disorders; pathogenesis; diagnostic; therapeutic; preventive methods; nutrition in captive and free-range wild animals

Special Issue Information

Dear Colleagues,

Companion animal genetics—both canine and feline—now represents a rapidly developing field, for which further advances can be expected in the near future. Research pertaining to genetic diseases in companion animals is not only directly utilized for understanding, diagnosing, treating, and preventing such diseases, it is also crucial for furnishing real-world evidence in translation medicine and establishing animal models of human diseases. For this Special Issue, we welcome original papers, short communications, and reviews covering areas related to genetic diseases in dogs and cats, as well as other companion animals (e.g., exotic animals). Potential topics include, but are not limited to, the identification of causative mutations, elucidation of pathological mechanisms, clinical analysis, novel diagnostic methods, molecular epidemiology and prevention, and therapeutic development. We are seeking manuscripts that enhance the current understanding of complex genetic disorders in companion animals. We look forward to hearing from many talented researchers.

Prof. Dr. Osamu Yamato
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

  • dog
  • cat
  • genetic disorder
  • inherited disease
  • mutation
  • pathogenic mechanism
  • clinical significance
  • molecular epidemiology
  • prevention
  • molecular therapy

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Published Papers (5 papers)

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Research

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10 pages, 225 KiB  
Article
Genotypic and Allelic Frequencies of Degenerative Myelopathy in an Italian Canine Population
by Sara Ghilardi, Giulietta Minozzi, Maria Grazia De Iorio, Camilla Gonzi, Stefano Frattini, Mara Bagardi, Paola G. Brambilla, Alessandra Paganelli and Michele Polli
Animals 2024, 14(18), 2712; https://doi.org/10.3390/ani14182712 - 19 Sep 2024
Viewed by 597
Abstract
Canine degenerative myelopathy is a fatal neurodegenerative disorder that affects the spinal cord. It is a late-onset disease, with symptoms becoming evident later in life at approximately 8 years of age. The principal aim of this study was to retrospectively evaluate allelic and [...] Read more.
Canine degenerative myelopathy is a fatal neurodegenerative disorder that affects the spinal cord. It is a late-onset disease, with symptoms becoming evident later in life at approximately 8 years of age. The principal aim of this study was to retrospectively evaluate allelic and genotypic frequencies of the c.118G > A and c.52A > T mutations located on the SOD1 gene in an Italian canine population to provide detailed information on the prevalence of the mutations in the country. The genetic data of different breeds were collected through DNA tests over a nine-year period in the Italian canine population. For each dog, the breed, sex, age, and DNA test results were recorded. Allelic and genotypic frequencies were calculated. A total of 1667 DNA tests for the c.118G > A and c.52A > T mutations were carried out on 84 breeds. For the analysis of prevalence, only breeds counting more than 20 subjects have been considered, for a total of 1410 DNA tests obtained from 13 different breeds. In the population tested for the c.118G > A mutation, 65.47% (n. 893) of the subjects were clear, 25.59% (n. 349) were heterozygous carriers, and 8.94% (n. 122) were homozygous for the mutated allele. The mutation showed the highest frequency in Pembroke Welsh Corgis (55.49%) and the lowest frequencies in Poodles (6.32%) and Australian Shepherds (7.14%). The allelic frequency of the c.52A > T mutation was 7.61% in the Bernese Mountain dog. Neither variant differed between females and males in genotypic frequencies. The present study provides insights into the allelic and genotypic frequencies of canine degenerative myelopathy in different dog breeds in Italy. Full article
(This article belongs to the Special Issue Advances in Companion Animal Genetic Diseases)
10 pages, 975 KiB  
Article
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease
by Tofazzal Md Rakib, Md Shafiqul Islam, Mohammad Mejbah Uddin, Mohammad Mahbubur Rahman, Akira Yabuki, Tetsushi Yamagami, Motoji Morozumi, Kazuyuki Uchida, Shinichiro Maki, Abdullah Al Faruq and Osamu Yamato
Animals 2023, 13(11), 1744; https://doi.org/10.3390/ani13111744 - 24 May 2023
Cited by 2 | Viewed by 2131
Abstract
Niemann–Pick disease (NP) type C is an autosomal, recessive, and inherited neurovisceral genetic disorder characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes, with a wide spectrum of clinical phenotypes. This study aimed to determine the molecular [...] Read more.
Niemann–Pick disease (NP) type C is an autosomal, recessive, and inherited neurovisceral genetic disorder characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes, with a wide spectrum of clinical phenotypes. This study aimed to determine the molecular genetic alterations in two cases of felines with NP in Japan, a Siamese cat in 1989 and a Japanese domestic (JD) cat in 1998. Sanger sequencing was performed on 25 exons of the feline NPC1 gene and 4 exons of the feline NPC2 gene, using genomic DNA extracted from paraffin-embedded tissue specimens. The sequenced exons were compared with reference sequences retrieved from the GenBank database. The identified mutations and alterations were then analyzed using different prediction algorithms. No pathogenic mutations were found in feline NPC1; however, c.376G>A (p.V126M) was identified as a pathogenic mutation in the NPC2 gene. The Siamese cat was found to be homozygous for this mutation. The JD cat was heterozygous for the same mutation, but no other exonic NPC2 mutation was found. Furthermore, the JD cat had a homozygous splice variant (c.364-4C>T) in the NPC2 gene, which is not known to be associated with this disease. The NPC2:c.376G>A (p.V126M) mutation is the second reported pathogenic mutation in the feline NPC2 gene that may be present in the Japanese cat population. Full article
(This article belongs to the Special Issue Advances in Companion Animal Genetic Diseases)
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9 pages, 1938 KiB  
Communication
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
by Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina and Osamu Yamato
Animals 2023, 13(8), 1336; https://doi.org/10.3390/ani13081336 - 13 Apr 2023
Cited by 1 | Viewed by 2549
Abstract
Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene. Here, we describe the molecular basis of genetic defects in [...] Read more.
Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene. Here, we describe the molecular basis of genetic defects in an 8-month-old domestic short-haired cat with PD. The cat was previously diagnosed with PD based on the clinical and pathological findings of hypertrophic cardiomyopathy and excessive accumulation of glycogen in the cardiac muscles. Sanger sequencing was performed on 20 exons of the feline GAA gene using genomic DNA extracted from paraffin-embedded liver tissues. The affected cat was found to be homozygous for the GAA:c.1799G>A mutation resulting in an amino acid substitution (p.R600H) of acid α-glucosidase, a codon position of which is identical with three missense mutations (p.R600C, p.R600L, and p.R600H) causing human infantile-onset PD (IOPD). Several stability and pathogenicity predictors have also shown that the feline mutation is deleterious and severely decreases the stability of the GAA protein. The clinical, pathological, and molecular findings in the cat were similar to those of IOPD in humans. To our knowledge, this is the first report of a pathogenic mutation in a cat. Feline PD is an excellent model for human PD, especially IOPD. Full article
(This article belongs to the Special Issue Advances in Companion Animal Genetic Diseases)
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12 pages, 1413 KiB  
Article
Genomic Analysis of the Endangered Fonni’s Dog Breed: A Comparison of Genomic and Phenotypic Evaluation Scores
by Matteo Cortellari, Arianna Bionda, Raffaella Cocco, Sara Sechi, Luigi Liotta and Paola Crepaldi
Animals 2023, 13(5), 818; https://doi.org/10.3390/ani13050818 - 23 Feb 2023
Cited by 1 | Viewed by 2199
Abstract
The Fonni’s dog is an ancient Sardinian breed for livestock and property guarding. In recent years, the number of new registrations to the breeding book has slumped and, thus, this breed risks being lost forever. This work refocuses attention to the Fonni’s dog, [...] Read more.
The Fonni’s dog is an ancient Sardinian breed for livestock and property guarding. In recent years, the number of new registrations to the breeding book has slumped and, thus, this breed risks being lost forever. This work refocuses attention to the Fonni’s dog, analysing its genomic makeup and comparing different phenotypical and genetic evaluation scores. Thirty Fonni’s dogs were ranked by their general accordance to the breed typicality (typicality score) and to the provisional standard by official judges (judges’ score). They were genotyped with a 230K SNP BeadChip and compared with 379 dogs of 24 breeds. Genomically, the Fonni’s dogs placed themselves near shepherd dogs and showed a unique genetic signature, which was used to create the genomic score. This score better correlated with typicality (ρ = 0.69, p < 0.0001) than the judges’ score (ρ = 0.63, p = 0.0004), which showed little variability among the included dogs. Hair texture or colour were significantly associated in the three scores. The Fonni’s dog is confirmed as a well-distinguished breed, despite being selected mainly for its work abilities. The evaluation criteria used during dog expositions can be improved to increase their variability and include elements typical of the breed. The recovery of the Fonni’s dog would be possible only with a shared vision between the Italian kennel club and breeders, and the support of regional programs. Full article
(This article belongs to the Special Issue Advances in Companion Animal Genetic Diseases)
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Review

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31 pages, 1081 KiB  
Review
An Overview of Canine Inherited Neurological Disorders with Known Causal Variants
by Vlad Cocostîrc, Anamaria Ioana Paștiu and Dana Liana Pusta
Animals 2023, 13(22), 3568; https://doi.org/10.3390/ani13223568 - 18 Nov 2023
Cited by 2 | Viewed by 4082
Abstract
Hereditary neurological conditions documented in dogs encompass congenital, neonatal, and late-onset disorders, along with both progressive and non-progressive forms. In order to identify the causal variant of a disease, the main two approaches are genome-wide investigations and candidate gene investigation. Online Mendelian Inheritance [...] Read more.
Hereditary neurological conditions documented in dogs encompass congenital, neonatal, and late-onset disorders, along with both progressive and non-progressive forms. In order to identify the causal variant of a disease, the main two approaches are genome-wide investigations and candidate gene investigation. Online Mendelian Inheritance in Animals currently lists 418 Mendelian disorders specific to dogs, of which 355 have their likely causal genetic variant identified. This review aims to summarize the current knowledge on the canine nervous system phenes and their genetic causal variant. It has been noted that the majority of these diseases have an autosomal recessive pattern of inheritance. Additionally, the dog breeds that are more prone to develop such diseases are the Golden Retriever, in which six inherited neurological disorders with a known causal variant have been documented, and the Belgian Shepherd, in which five such disorders have been documented. DNA tests can play a vital role in effectively managing and ultimately eradicating inherited diseases. Full article
(This article belongs to the Special Issue Advances in Companion Animal Genetic Diseases)
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