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

Xu, Fangzheng; Shan, Shuwen; Sommerlad, S. F.; Seddon, Jennifer M.; Brenig, Bertram

doi:10.3390/genes12040467

Cited by 4 publications

(3 citation statements)

References 73 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The occurrence of congenital deafness is widespread across dog breeds. In Australian Stumpy Tail Cattle Dogs, a missense variant of the KLF7 gene was associated with deafness in this breed [141]. In the Beauceron breed, bilateral hearing loss was associated with a missense variant in the CDH23 gene [142].…”

Section: Deafnessmentioning

confidence: 85%

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Cocostîrc,

Paștiu,

Pusta

2023

Animals

View full text Add to dashboard Cite

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.

show abstract

Section: Deafnessmentioning

confidence: 85%

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Cocostîrc,

Paștiu,

Pusta

2023

Animals

View full text Add to dashboard Cite

show abstract

“…Norton et al report the first heritability estimate and GWAS for episodic exercise-induced collapse in Border Collies [24]. Genetic risk factors for deafness were investigated in Australian Stumpy Tail Cattle Dogs [25]. Many giant dog breeds are highly predisposed to develop osteosarcoma.…”

Section: Complex Diseasesmentioning

confidence: 99%

Special Issue: “Canine Genetics 2”

Leeb

2023

Genes

View full text Add to dashboard Cite

Wolves were the first animal species to become domesticated by humans, approximately 30,000–50,000 years ago. Human-directed dog breeding over thousands of generations has generated more than 350 recognized breeds displaying surprisingly different phenotypes with respect to morphology, behavior and disease predispositions. The domestication of wolves and the subsequent breeding of dogs can be viewed as one of humankind’s oldest and largest genetic experiments and provides us with unique opportunities for research. Dogs have not only become human’s best friend but were also described as geneticists’ best friend in a past issue of Science. In recognition of the importance of canine genetics, this Special Issue, entitled “Canine Genetics 2”, was compiled. It represents a sequel to the former Special Issue “Canine Genetics”, which was published in 2019. During the last 15 years, the canine community has heavily relied on a reference genome derived from the female Boxer Tasha. “Canine Genetics 2” includes an article describing a greatly improved version of this important community resource. This Special Issue further contains several reports related to monogenic or complex inherited diseases in dogs. Finally, important aspects of wild canid research, genetic diversity in different populations and canine morphology were investigated.

show abstract

“…Despite the clear phenotypic description of CSD, the high prevalence in some breeds, and numerous efforts to uncover the genetic basis of canine deafness, few candidates for causative variants have been identified so far, with none in the Dalmatian dog 27 – 31 . Attempts to identify causative risk variants associated with CSD in Dalmatian dogs have been numerous 25 , 30 , 32 – 38 .…”

Section: Introductionmentioning

confidence: 99%

De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs

Haase

Willet

Chew

et al. 2022

Sci Rep

View full text Add to dashboard Cite

Congenital sensorineural deafness (CSD) has been reported to affect up to 30% of Dalmatian dogs world-wide and while unilaterally deaf dogs can live a close to normal life, dogs suffering bilateral deafness are frequently euthanized. Extreme-white coat patterning as encoded by the gene Melanocyte Inducing Transcription Factor (MITF) has long been postulated as the major risk factor for CSD in the Dalmatian breed. While attempts to identify causative risk variants associated with CSD have been numerous, no genome-wide association study has positively identified MITF as a risk locus for either bilateral or unilateral deafness in the Dalmatian breed to date. In this study, we identified an association with CSD on CFA20 in the vicinity of MITF within Australian Dalmatian dogs. Although not genome-wide significant, the association signal was validated by reanalysing publicly available data and merging the wider data resource with the local data to improve statistical power. The merged data, representing three major global populations of Dalmatian dogs, enabled us to identify a single, well-defined genome-wide significant risk haplotype for CSD. The haplotype was formed by three genome-wide significant associated markers (BICF2G630233852T>C, BICF2G630233861T>C, BICF2G630233888G>A) on CFA20 with 62% of bilaterally deaf dogs homozygous for the risk haplotype (CCA), while 30% of bilaterally deaf and 45% of hearing dogs carried one copy of the risk haplotype. Animals homozygous or heterozygous for the low-risk haplotype were less likely to be unilaterally deaf. While the association between the risk haplotype and deafness is incomplete, animals homozygous for the risk haplotype were 10-times more likely to be bilaterally deaf. Although the underlying causative variants are yet to be discovered, results from this study can now assist with reducing deafness in Dalmatian dogs.

show abstract

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

Cited by 4 publications

References 73 publications

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Special Issue: “Canine Genetics 2”

De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs

Contact Info

Product

Resources

About