4.6 Editorial Material

Special Issue: Canine Genetics 2

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Article Agriculture, Dairy & Animal Science

Identification of Genetic Risk Factors for Monogenic and Complex Canine Diseases

Tosso Leeb et al.

Summary: Advances in DNA sequencing and other technologies have made it easier to identify genetic risk factors for inherited diseases in dogs. Researchers have reviewed recent technological developments in canine disease genetics and suggest that identifying disease-causing variants in dogs with monogenic diseases may become a widely used diagnostic approach in veterinary medicine. The study also discusses the challenges posed by diseases with complex modes of inheritance and provides insights on interpreting sequence variants based on developments in human clinical genetics.

ANNUAL REVIEW OF ANIMAL BIOSCIENCES (2023)

Article Genetics & Heredity

Genetic Rescue of the Highly Inbred Norwegian Lundehund

Claudia Melis et al.

Summary: Genetic rescue involves introducing new individuals to increase genetic diversity in small, inbred populations. Research shows that F2 dogs have higher genome-wide diversity compared to Lundehund, but lower than F1 and Buhund, with heterozygosity values following expected patterns. Immediate backcrossing results in some loss of acquired genetic diversity, suggesting the potential benefits of additional breeding among F2 crosses in genetic rescue management.
Article Genetics & Heredity

The Effects of FGF4 Retrogenes on Canine Morphology

Danika Bannasch et al.

Summary: The study identified two FGF4 retrogenes that cause dwarfism in dog breeds and evaluated their effects on body size. The retrogenes significantly reduced height at the shoulders and antebrachial length, with FGF4L1 having a greater effect than FGF4L2. FGF4L1 also influenced carpal valgus, while FGF4L2 increased head width.
Article Genetics & Heredity

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract

Gabriela Rudd Garces et al.

Summary: This study investigates the occurrence of juvenile cataracts in a family of Wirehaired Pointing Griffon dogs. Through genetic sequencing and pedigree analysis, the FYCO1:c.2024delG gene variant is identified as a potential causative variant for cataracts in this breed.
Article Genetics & Heredity

Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek

Silvie Neradilova et al.

Summary: Non-inflammatory alopecia is a common skin problem in dogs that affects the integrity of their coat and appearance. This study focused on the Cesky Fousek breed, which frequently experiences atypical recurrent flank alopecia (aRFA). The genetic cause of aRFA is unknown, so this study aimed to identify the associated variants using histological, genomic, and transcriptomic data. Through a genome-wide association study (GWAS) and comparison of gene expression patterns, several candidate genes were identified, suggesting a polygenic basis for aRFA. These genes are involved in metabolic pathways related to collagen formation, muscle structure/contraction, lipid metabolism, and the immune system.
Article Biotechnology & Applied Microbiology

Recent, full-length gene retrocopies are common in canids

Kevin Batcher et al.

GENOME RESEARCH (2022)

Article Genetics & Heredity

A SINE Insertion in F8 Gene Leads to Severe Form of Hemophilia A in a Family of Rhodesian Ridgebacks

Alexandra Kehl et al.

Summary: The study identified a SINE insertion in exon 14 of the F8 gene as the genetic cause of Hemophilia A in a family of Rhodesian Ridgebacks. This genetic variant was confirmed through Sanger sequencing and its perfect correlation with clinical signs in the family tree was established. Additionally, clinically unaffected female carriers were identified and recommended to be excluded from breeding to prevent the production of clinically affected male offspring and more subclinical female carriers.
Article Genetics & Heredity

Ancient DNA from the Asiatic Wild Dog (Cuon alpinus) from Europe

Ulrike H. Taron et al.

Summary: The Asiatic wild dog, once widespread throughout Eurasia and even reaching North America during the Pleistocene, is now largely restricted to South and Southeast Asia. The fossil record of the dhole is scattered and complicated by overlap in size and morphology with other canid species. Genetic data has been essential in identifying species affiliation of fossil specimens. Ancient dhole sequences show high divergence from modern dhole sequences, but the scarcity of data limits a more comprehensive analysis.
Article Genetics & Heredity

Genomic Regions Associated with Variation in Pigmentation Loss in Saddle Tan Beagles

Mia E. Nord et al.

Summary: The study used laboratory beagles to investigate genetic variations in fur coloration, finding differences in white coloration in different body parts, governed by the MC1R and MITF genes, with lower correlation between saddle color and overall whiteness.
Article Genetics & Heredity

Genetic Diversity and Relatedness among Captive African Painted Dogs in North America

Cassandra M. Miller-Butterworth et al.

Summary: The study aimed to assess genetic variation and relatedness among North American captive African painted dogs, compare the data to wild and European populations, and facilitate the development of a global management plan. The results showed higher microsatellite heterozygosity but lower effective population size estimates compared to Europe. While there was no significant inbreeding overall, high relatedness values among individuals should be considered in future breeding programs.
Article Genetics & Heredity

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism

Gabriela Rudd Garces et al.

Summary: This study investigated two Dogo Argentino dogs with disproportionate dwarfism, finding evidence suggesting a potential genetic defect in the PKRG2 gene as the likely cause for this phenotype.
Article Genetics & Heredity

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

Rebekkah J. Hitti-Malin et al.

Summary: Canine progressive retinal atrophy (PRA) is a hereditary disease characterized by photoreceptor cell death in the retina, leading to visual impairment. This study identified a causal variant in the BBS2 gene for a distinct form of PRA in Shetland sheepdogs, shedding new light on the molecular mechanism of the disease.
Article Genetics & Heredity

Heritability and Genomic Architecture of Episodic Exercise-Induced Collapse in Border Collies

Elaine M. Norton et al.

Summary: Border collie collapse (BCC) is a moderately- to highly-heritable complex polygenetic disease triggered by strenuous exercise, with 49-61% heritability. The genetic architecture shows contributions from 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. GWA analyses identified significant loci on chromosomes 1, 6, 11, 20, and 28, explaining around 5% of the total BCC heritability.
Article Genetics & Heredity

MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA)

Matthias Christen et al.

Summary: This study identified a hereditary syndrome in Cane Corso dogs and elucidated the molecular pathomechanism underlying the dental-skeletal-retinal anomaly. The findings confirmed the monogenic autosomal recessive mode of inheritance and perfect genotype-phenotype association in affected and unaffected dogs, suggesting a near complete loss of gene function as the causative mechanism.
Article Genetics & Heredity

A Single Base Insertion in F9 Causing Hemophilia B in a Family of Newfoundland-Parti Standard Poodle Hybrid Dogs

Henrike Kuder et al.

Summary: This study describes a male Newfoundland-Parti Standard Poodle hybrid puppy with hemophilia B, providing insights from clinical to molecular genetic levels into the characteristics and defects of the disease. A genetic mutation was identified in the family, leading to severe bleeding symptoms in other male offspring within the family.
Article Genetics & Heredity

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy

Matthias Christen et al.

Summary: In this study, a 4-month-old male Italian Greyhound with clinical signs of a neuromuscular disease was investigated, leading to the discovery of a heritable form of congenital muscular dystrophy (CMD) suspected to be caused by a private homozygous nonsense variant in the LAMA2 gene. This study highlights the importance of genetic analysis in diagnosing neuromuscular diseases in dogs.
Article Genetics & Heredity

Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus

Anna Letko et al.

Summary: Dogs serve as a unique spontaneous cancer model, with osteosarcoma being common in them. Large- to giant-sized dog breeds like the Leonberger have an increased risk for osteosarcoma, and genetic factors play a significant role in cancer predisposition among dogs.
Article Genetics & Heredity

A Missense Mutation in the KLF7 Gene Is a Potential Candidate Variant for Congenital Deafness in Australian Stumpy Tail Cattle Dogs

Fangzheng Xu et al.

Summary: A study identified KLF7 as a promising candidate gene causative for ASCD deafness, with the variant remaining significantly associated with deafness in ASCD.
Article Genetics & Heredity

MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type

Matthias Christen et al.

Summary: This study investigated a 1-month-old female smooth-haired miniature Dachshund with dilute color and neurological defects. Histopathological examination revealed changes in the hair follicles consistent with MLPH-related dilute coat color. A frameshift variant in the MYO5A gene was identified as a candidate causative variant for the observed dermatological and neurological signs in the dog.
Article Genetics & Heredity

Whole Genome Sequencing Reveals Multiple Linked Genetic Variants on Canine Chromosome 12 Associated with Risk for Symmetrical Lupoid Onychodystrophy (SLO) in the Bearded Collie

Liza C. Gershony et al.

Summary: Symmetrical lupoid onychodystrophy (SLO) in Bearded Collies may be associated with specific dog leukocyte antigen (DLA) class II haplotypes, potentially involving gene variants within the CFA12 and CFA17 regions. Multiple potential pathogenic gene variants in the CFA12 region were found to be correlated with the risk of SLO development, suggesting an association between gene mutations and disease progression.
Article Genetics & Heredity

Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs

Anna Laukner et al.

Summary: The cocoa coat color in French Bulldogs is primarily caused by a nonsense variant in HPS3, leading to subtle effects on platelet morphology but no reported increase in bleeding tendencies in daily life. Further studies are needed to definitively rule out very subtle effects on visual acuity or clinically relevant bleeding disorders.
Review Cell Biology

Insights into Morphology and Disease from the Dog Genome Project

Jeffrey J. Schoenebeck et al.

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 30 (2014)

Article Biochemistry & Molecular Biology

Canine Morphology: Hunting for Genes and Tracking Mutations

Abigail L. Shearin et al.

PLOS BIOLOGY (2010)

Review Genetics & Heredity

Leader of the pack: gene mapping in dogs and other model organisms

Elinor K. Karlsson et al.

NATURE REVIEWS GENETICS (2008)

Review Multidisciplinary Sciences

Genome sequence, comparative analysis and haplotype structure of the domestic dog

K Lindblad-Toh et al.

NATURE (2005)