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Special Issue "Companion Animal Genetics and Genomics"

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A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Animal Genetics and Genomics".

Deadline for manuscript submissions: 20 December 2023 | Viewed by 7138

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Prof. Dr. Tosso Leeb

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Institute of Genetics, University of Bern, Bern, Switzerland
Interests: veterinary genetics; domestic animals; mammals; skin (dermatology); coat colour; mendelian traits
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genes has devoted several Special Issues to cats, dogs and other companion animal species in the past. Companion animals are the beloved friends of humans and share the environment with their owners. Due to their close phylogenetic relationship with humans and their specific physiological characteristics, they often represent excellent models for human traits and diseases. The importance of genetic research on companion animals is recognized with this Special Issue.

This Special Issue will cover all aspects of companion animal genetics and genomics, including studies on domestication and breed development, genetic diversity, determinants of morphology and coat color, behavioral genetics and genetics of athletic performance, genetics of inherited diseases and cancer genetics. The ever advancing technological developments in sequencing and data analysis, together with large publicly available resource datasets, facilitate new approaches to tackle open questions. We are looking forward to receiving your exciting research manuscripts that will inform biology and (veterinary) medicine.

Prof. Dr. Tosso Leeb
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. Genes is an international peer-reviewed open access monthly 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 2600 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

cat
dog
horse
breed
domestication
diversity
morphology
behavior
disease
cancer
precision medicine

Published Papers (4 papers)

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Research

Open AccessArticle

Current Classification of Canine Muscular Dystrophies and Identification of New Variants

G. Diane Shelton

Katie M. Minor

Steven G. Friedenberg

Jonah N. Cullen

Ling T. Guo

and

James R. Mickelson

Genes 2023, 14(8), 1557; https://doi.org/10.3390/genes14081557 - 29 Jul 2023

Viewed by 739

Abstract

The spectrum of canine muscular dystrophies has rapidly grown with the recent identification of several more affected breeds and associated mutations. Defects include those in genes and protein products associated with the sarcolemma (dystrophin deficient X-linked muscular dystrophy and sarcoglycan-deficient limb–girdle muscular dystrophy) and with the extracellular matrix (collagen 6, laminin α2, and α-dystroglycan-deficient congenital muscular dystrophies). With the increasing application of whole genome sequencing and whole exome sequencing, the clinical and pathological spectra associated with specific neuromuscular genetic defects are constantly evolving. In this report, we provide a brief overview of the current status of gene defects reported in canine muscular dystrophies. We also report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog. Full article

(This article belongs to the Special Issue Companion Animal Genetics and Genomics)

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Open AccessArticle

RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia

and

Genes 2023, 14(8), 1520; https://doi.org/10.3390/genes14081520 - 25 Jul 2023

Viewed by 3049

Abstract

Several genetically distinct forms of cerebellar ataxia exist in Belgian shepherd dogs. We investigated a litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the RALGAPA1 gene, XM_038544497.1:c.6080-2893_6944+1003del. It is predicted to introduce a premature stop codon into the transcript, truncating ~23% of the wild-type open reading frame of the encoded Ral GTPase-activating protein catalytic subunit α 1, XP_038400425.1:(p.Val2027Glnfs*7). Genotypes at the deletion showed the expected co-segregation with the phenotype in the family. Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype. Histopathology revealed cytoplasmic accumulation of granular material within cerebellar Purkinje cells. Genotyping a cohort of almost 900 Belgian shepherd dogs showed the expected genotype–phenotype association and a carrier frequency of 5% in the population. Human patients with loss-of-function variants in RALGAPA1 develop psychomotor disability and early-onset epilepsy. The available clinical and histopathological data, together with current knowledge about RALGAPA1 variants and their functional impact in other species, suggest the RALGAPA1 deletion is the likely causative defect for the observed phenotype in the affected dogs. Full article

(This article belongs to the Special Issue Companion Animal Genetics and Genomics)

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Open AccessArticle

PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease

Michaela Drögemüller

Nadine Klein

Rikke Lill Steffensen

Miriam Keiner

Vidhya Jagannathan

and

Tosso Leeb

Genes 2023, 14(6), 1210; https://doi.org/10.3390/genes14061210 - 01 Jun 2023

Viewed by 829

Abstract

A female Lagotto Romagnolo dog with polycystic kidney disease (PKD) and her progeny, including PKD-affected offspring, were studied. All affected dogs appeared clinically inconspicuous, while sonography revealed the presence of renal cysts. The PKD-affected index female was used for breeding and produced two litters with six affected offspring of both sexes and seven unaffected offspring. The pedigrees suggested an autosomal dominant mode of inheritance of the trait. A trio whole genome sequencing analysis of the index female and her unaffected parents identified a de novo heterozygous nonsense variant in the coding region of the PKD1 gene. This variant, NM_001006650.1:c.7195G>T, is predicted to truncate 44% of the open reading frame of the wild-type PKD1 protein, NP_001006651.1:p.(Glu2399*). The finding of a de novo variant in an excellent functional candidate gene strongly suggests that the PKD1 nonsense variant caused the observed phenotype in the affected dogs. Perfect co-segregation of the mutant allele with the PKD phenotype in two litters supports the hypothesized causality. To the best of our knowledge, this is the second description of a PKD1-related canine form of autosomal dominant PKD that may serve as an animal model for similar hepatorenal fibrocystic disorders in humans. Full article

(This article belongs to the Special Issue Companion Animal Genetics and Genomics)

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Open AccessArticle

An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs

and

Genes 2023, 14(5), 988; https://doi.org/10.3390/genes14050988 - 27 Apr 2023

Viewed by 1690

Abstract

Sudden cardiac death in the young (SCDY) is a devastating event that often has an underlying genetic basis. Manchester Terrier dogs offer a naturally occurring model of SCDY, with sudden death of puppies as the manifestation of an inherited dilated cardiomyopathy (DCM). We performed a genome-wide association study for SCDY/DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene ABCC9. Sanger sequencing revealed an ABCC9 p.R1186Q variant present in a homozygous state in all SCDY/DCM-affected dogs (n = 26). None of the controls genotyped (n = 398) were homozygous for the variant, but 69 were heterozygous carriers, consistent with autosomal recessive inheritance with complete penetrance (p = 4 × 10⁻⁴² for the association of homozygosity for ABCC9 p.R1186Q with SCDY/DCM). This variant exists at low frequency in human populations (rs776973456) with clinical significance previously deemed uncertain. The results of this study further the evidence that ABCC9 is a susceptibility gene for SCDY/DCM and highlight the potential application of dog models to predict the clinical significance of human variants. Full article

(This article belongs to the Special Issue Companion Animal Genetics and Genomics)

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