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14 pages, 1103 KB  
Article
Are Reusable Dry Electrodes an Alternative to Gelled Electrodes for Canine Surface Electromyography?
by Ana M. Ribeiro, I. Brás, L. Caldeira, J. Caldeira, C. Peham, H. Plácido da Silva and João F. Requicha
Animals 2025, 15(20), 2959; https://doi.org/10.3390/ani15202959 - 13 Oct 2025
Viewed by 724
Abstract
Despite its increasing use in veterinary rehabilitation, practical constraints—such as skin preparation and single-use electrodes—limit the wider adoption of surface electromyography (sEMG). Having conventional pre-gelled Ag/AgCl electrodes as reference, we made a pioneering comparison of the performance of reusable soft polymeric dry electrodes [...] Read more.
Despite its increasing use in veterinary rehabilitation, practical constraints—such as skin preparation and single-use electrodes—limit the wider adoption of surface electromyography (sEMG). Having conventional pre-gelled Ag/AgCl electrodes as reference, we made a pioneering comparison of the performance of reusable soft polymeric dry electrodes for recording paraspinal muscle activity in dogs during treadmill walking. Twelve clinically healthy Dachshunds from both genders were evaluated under two conditions, namely: (i) dry electrodes on untrimmed hair; and (ii) pre-gelled electrodes after trichotomy. Signals were acquired from the longissimus dorsi muscle at 1 kHz, processed with standardized filtering and rectification, and analyzed in both time and frequency domains. Dry electrodes yielded higher amplitude and Root Mean Square (RMS) values, but slightly lower power spectral density metrics when compared to pre-gelled electrodes. Nevertheless, frequency-domain results were broadly comparable between configurations. Dry electrodes reduce the preparation time, avoid hair clipping, and allow reusability without major signal degradation. While pre-gelled electrodes may still offer marginally superior stability during movement, our results suggest that soft polymeric dry electrodes present a feasible, less invasive, and more sustainable alternative for canine sEMG. These findings support further validation of dry electrodes in clinical populations, particularly for neuromuscular assessment in intervertebral disk disease. Full article
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13 pages, 2548 KB  
Article
Breed-Specific Variations in Vertebral Right Heart Index (VRHi): Implications for Detection of True and False Right Heart Enlargement (RHE) in Dogs
by Kawon Choi, Jaehwan Kim, Kidong Eom, Jongwon Koo, Inseong Jeong and Chul Park
Vet. Sci. 2025, 12(4), 300; https://doi.org/10.3390/vetsci12040300 - 24 Mar 2025
Viewed by 1341
Abstract
This study investigated breed-specific variations in vertebral right heart index (VRHi) values and their diagnostic accuracy in detecting right heart enlargement (RHE) in dogs. A total of 359 dogs from various breeds, including brachycephalic and non-brachycephalic groups, were evaluated using radiographic and echocardiographic [...] Read more.
This study investigated breed-specific variations in vertebral right heart index (VRHi) values and their diagnostic accuracy in detecting right heart enlargement (RHE) in dogs. A total of 359 dogs from various breeds, including brachycephalic and non-brachycephalic groups, were evaluated using radiographic and echocardiographic methods. The VRHi was measured from lateral (RL) and ventrodorsal (VD) thoracic radiographs. Certain breeds, such as brachycephalic dogs, Schnauzers, Dachshunds, Pomeranians, Yorkshire Terriers, and Miniature Pinschers, demonstrated significantly higher VRHi values than non-brachycephalic breeds, even without true RHE. The RL VRHi showed stronger clinical relevance than the VD VRHi, correlating better with the echocardiographic findings. Breed-specific diagnostic cutoff values were established: RL VRHi ≥ 3.45 vertebral units (v) (sensitivity: 75%, specificity: 75%) and VD VRHi ≥ 2.75 v (sensitivity: 72%, specificity: 72%) for brachycephalic breeds and RL VRHi ≥ 3.25 v (sensitivity: 78%, specificity: 80%), VD VRHi ≥ 2.4 v (sensitivity: 61%, specificity: 61%) for non-brachycephalic breeds not belonging to the aforementioned categories. Body weight and chest conformation showed no significant association with VRHi values. These findings highlight the necessity of considering breed-specific factors in radiographic cardiac evaluations, as some breeds may present radiographic signs of RHE despite a normal cardiac anatomy and function. Full article
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20 pages, 18882 KB  
Protocol
Mapping Gene Expression in Whole Larval Brains of Bicyclus anynana Butterflies
by Tirtha Das Banerjee, Linwan Zhang and Antónia Monteiro
Methods Protoc. 2025, 8(2), 31; https://doi.org/10.3390/mps8020031 - 13 Mar 2025
Cited by 2 | Viewed by 1754
Abstract
Butterfly larvae display intricate cognitive capacities and behaviors, but relatively little is known about how those behaviors alter their brains at the molecular level. Here, we optimized a hybridization chain reaction 3.0 (HCR v3.0) protocol to visualize the expression of multiple RNA molecules [...] Read more.
Butterfly larvae display intricate cognitive capacities and behaviors, but relatively little is known about how those behaviors alter their brains at the molecular level. Here, we optimized a hybridization chain reaction 3.0 (HCR v3.0) protocol to visualize the expression of multiple RNA molecules in fixed larval brains of the African butterfly Bicyclus anynana. We optimized the polyacrylamide gel mounting, fixation, and sample permeabilization steps, and mapped the expression domains of ten genes in whole larval brain tissue at single-cell resolution. The genes included optomotor blind (omb), yellow-like, zinc finger protein SNAI2-like (SNAI2), weary (wry), extradenticle (exd), Synapsin, Distal-less (Dll), bric-à-brac 1 (bab1), dachshund (dac), and acetyl coenzyme A acetyltransferase B (AcatB). This method can be used alongside single-cell sequencing to visualize the spatial location of brain cells that change in gene expression or splicing patterns in response to specific behaviors or cognitive experiences. Full article
(This article belongs to the Section Molecular and Cellular Biology)
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11 pages, 832 KB  
Article
Comparison of Clinical Features of Intervertebral Disc Extrusions in English Cocker Spaniels, French Bulldogs and Dachshunds
by Jad Abouzeid, Nick Grapes, Sam Khan, Steven De Decker and Paul Freeman
Animals 2025, 15(4), 602; https://doi.org/10.3390/ani15040602 - 19 Feb 2025
Cited by 3 | Viewed by 3958
Abstract
Intervertebral disc extrusion (IVDE) is a common neurological condition in veterinary medicine, with chondrodystrophic breeds being particularly susceptible. Studies have compared breed-related risks and clinical characteristics, but here, we investigate the disease in three common chondrodystrophic breeds, the English cocker spaniel, French bulldog [...] Read more.
Intervertebral disc extrusion (IVDE) is a common neurological condition in veterinary medicine, with chondrodystrophic breeds being particularly susceptible. Studies have compared breed-related risks and clinical characteristics, but here, we investigate the disease in three common chondrodystrophic breeds, the English cocker spaniel, French bulldog and dachshund, and aim to describe and compare the clinical features and anatomical distribution between them. We performed a multicentre retrospective observational study that included 465 dachshunds, 327 French bulldogs and 145 English cocker spaniels with an imaging confirmed diagnosis of IVDE. The mean age at presentation differed in all three breeds, with the French bulldog presenting youngest and English cocker spaniels presenting oldest. IVDE was most common in the thoracolumbar region in all three breeds, although French bulldogs showed the highest proportion of cervical IVDE, dachshunds the highest proportion of thoracolumbar IVDE, and English cocker spaniels the highest proportion of lumbosacral IVDE. The results of this study suggest a differing clinical presentation for IVDE between these three breeds with regard to both the age of onset and the anatomical region most likely to be affected. Full article
(This article belongs to the Section Veterinary Clinical Studies)
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14 pages, 1483 KB  
Article
Exploring the Pharmacokinetics and Gut Microbiota Modulation of Hesperidin and Nobiletin from Mandarin Orange Peel in Experimental Dogs: A Pilot Study
by Jun Nakahigashi, Makoto Kurikami, Satomi Iwai, Sadahiko Iwamoto, Shou Kobayashi and Eiji Kobayashi
Metabolites 2025, 15(1), 3; https://doi.org/10.3390/metabo15010003 - 25 Dec 2024
Cited by 2 | Viewed by 4681
Abstract
Background/Objectives: Mandarin orange peel (MOP) is recognized for its traditional medicinal properties due to its high flavonoid content. This study aimed to analyze MOP harvested in Japan for specific bioactive compounds and to explore its health applications in dogs, including effects on gut [...] Read more.
Background/Objectives: Mandarin orange peel (MOP) is recognized for its traditional medicinal properties due to its high flavonoid content. This study aimed to analyze MOP harvested in Japan for specific bioactive compounds and to explore its health applications in dogs, including effects on gut microbiota and cognitive symptoms. Methods: Flavonoid content (particularly hesperidin and nobiletin) of MOP was measured. High-flavonoid MOP was then incorporated into gelatin cubes. In the time–course blood concentration study, experimental beagle dogs received a single oral dose (4 g). For intestinal microbiota analysis and blood biochemical tests, beagle dogs were administered 1 g twice daily. For the Demonstration Test, older dogs (a 14-year-old female Shiba Inu, a 14-year-old female Miniature Dachshund, and a 19-year-old male Miniature Dachshund) were administered 1 g twice daily. Analysis included microbiota profiling via 16S rDNA sequencing and observational assessment of cognitive indicators in a pilot study involving senior dogs with Alzheimer’s disease. Results: The MOP powder contained 9.3% hesperidin in early-ripening varieties (October harvest) and 6.9% in ripe varieties (December harvest). Nobiletin content was 41 mg/100 g (0.041%) and 35 mg/100 g (0.035%) for the early and late harvests, respectively. Administration of MOP-enriched gelatin cubes reduced Fusobacteriaceae and increased Eggerthellaceae. Cognitive symptoms like howling and counterclockwise turning showed improvement in senior dogs (n = 3). Conclusions: This study provides preliminary support for the potential health benefits of MOP in canine dietary applications, particularly for gut health and cognitive function. Improvement in cognitive symptoms may be due to the anxiolytic effects of mandarin peel. Full article
(This article belongs to the Special Issue Food Additives in Gut Microbiota and Metabolic Health)
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10 pages, 2217 KB  
Brief Report
Incidence of Chiari-like Malformation/Syringomyelia in a Cohort of Small Dog Breeds Scanned Using MRI over a Period of 8 Years in the Netherlands
by Fredrik Hoholm, Karin Bruining-Staal and Paul J.J. Mandigers
Pets 2024, 1(3), 267-276; https://doi.org/10.3390/pets1030019 - 1 Oct 2024
Cited by 5 | Viewed by 7642
Abstract
Background: Chiari-like malformation (CM), Syringomyelia (SM) and middle ear effusion (MEE) are frequently observed disorders in Cavalier King Charles Spaniels (CKCSs), Pomeranians, and less frequently the Griffon. There are a few reports in which small dogs have been identified as suffering from CM/SM. [...] Read more.
Background: Chiari-like malformation (CM), Syringomyelia (SM) and middle ear effusion (MEE) are frequently observed disorders in Cavalier King Charles Spaniels (CKCSs), Pomeranians, and less frequently the Griffon. There are a few reports in which small dogs have been identified as suffering from CM/SM. Methods: From all MRI centers based in the Netherlands, MRI scans for small dog breeds performed for various reasons over a period of 8 years were collected. Scans that enabled a CM and/or SM evaluation were included and evaluated. Results: In total, 177 MRI scans were included. CM could be evaluated in 163 out of 177 dogs. In 63 dogs, no CM was observed, while 100 dogs had CM. SM could be evaluated in 144 out of 177 dogs. No SM was seen in 56 dogs and SM was seen in 88 dogs. Both CM and SM were seen in high frequency in the Chihuahua, French Bulldog, Griffon, and Pug but did also occur in lower frequencies in various other small breed dogs and crosses. CM and/or SM does occur in various other small dog breeds and crosses suggesting that it is indeed a type-related disorders. As it can cause serious clinical signs breeders should be aware of the risk of CM/SM when breeding with these small dog breeds. Full article
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13 pages, 2491 KB  
Article
Excess Dally-like Induces Malformation of Drosophila Legs
by Xubo Zhang, Yi Wang, Wenting Zhao, Shumin Yang, Bernard Moussian, Zhangwu Zhao, Jianzhen Zhang and Wei Dong
Cells 2024, 13(14), 1199; https://doi.org/10.3390/cells13141199 - 15 Jul 2024
Cited by 2 | Viewed by 1622
Abstract
Glypicans are closely associated with organ development and tumorigenesis in animals. Dally-like (Dlp), a membrane-bound glypican, plays pivotal roles in various biological processes in Drosophila. In this study, we observed that an excess of Dlp led to the malformation of legs, particularly [...] Read more.
Glypicans are closely associated with organ development and tumorigenesis in animals. Dally-like (Dlp), a membrane-bound glypican, plays pivotal roles in various biological processes in Drosophila. In this study, we observed that an excess of Dlp led to the malformation of legs, particularly affecting the distal part. Accordingly, the leg disc was shrunken and frequently exhibited aberrant morphology. In addition, elevated Dlp levels induced ectopic cell death with no apparent cell proliferation changes. Furthermore, Dlp overexpression in the posterior compartment significantly altered Wingless (Wg) distribution. We observed a marked expansion of Wg distribution within the posterior compartment, accompanied by a corresponding decrease in the anterior compartment. It appears that excess Dlp guides Wg to diffuse to cells with higher Dlp levels. In addition, the distal-less (dll) gene, which is crucial for leg patterning, was up-regulated significantly. Notably, dachshund (dac) and homothorax (hth) expression, also essential for leg patterning and development, only appeared to be negligibly affected. Based on these findings, we speculate that excess Dlp may contribute to malformations of the distal leg region of Drosophila, possibly through its influence on Wg distribution, dll expression and induced cell death. Our research advances the understanding of Dlp function in Drosophila leg development. Full article
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19 pages, 1766 KB  
Article
Dachshund Homolog 1: Unveiling Its Potential Role in Megakaryopoiesis and Bacillus anthracis Lethal Toxin-Induced Thrombocytopenia
by Guan-Ling Lin, Hsin-Hou Chang, Wei-Ting Lin, Yu-Shan Liou, Yi-Ling Lai, Min-Hua Hsieh, Po-Kong Chen, Chi-Yuan Liao, Chi-Chih Tsai, Tso-Fu Wang, Sung-Chao Chu, Jyh-Hwa Kau, Hsin-Hsien Huang, Hui-Ling Hsu and Der-Shan Sun
Int. J. Mol. Sci. 2024, 25(6), 3102; https://doi.org/10.3390/ijms25063102 - 7 Mar 2024
Cited by 2 | Viewed by 2355
Abstract
Lethal toxin (LT) is the critical virulence factor of Bacillus anthracis, the causative agent of anthrax. One common symptom observed in patients with anthrax is thrombocytopenia, which has also been observed in mice injected with LT. Our previous study demonstrated that LT [...] Read more.
Lethal toxin (LT) is the critical virulence factor of Bacillus anthracis, the causative agent of anthrax. One common symptom observed in patients with anthrax is thrombocytopenia, which has also been observed in mice injected with LT. Our previous study demonstrated that LT induces thrombocytopenia by suppressing megakaryopoiesis, but the precise molecular mechanisms behind this phenomenon remain unknown. In this study, we utilized 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced megakaryocytic differentiation in human erythroleukemia (HEL) cells to identify genes involved in LT-induced megakaryocytic suppression. Through cDNA microarray analysis, we identified Dachshund homolog 1 (DACH1) as a gene that was upregulated upon TPA treatment but downregulated in the presence of TPA and LT, purified from the culture supernatants of B. anthracis. To investigate the function of DACH1 in megakaryocytic differentiation, we employed short hairpin RNA technology to knock down DACH1 expression in HEL cells and assessed its effect on differentiation. Our data revealed that the knockdown of DACH1 expression suppressed megakaryocytic differentiation, particularly in polyploidization. We demonstrated that one mechanism by which B. anthracis LT induces suppression of polyploidization in HEL cells is through the cleavage of MEK1/2. This cleavage results in the downregulation of the ERK signaling pathway, thereby suppressing DACH1 gene expression and inhibiting polyploidization. Additionally, we found that known megakaryopoiesis-related genes, such as FOSB, ZFP36L1, RUNX1, FLI1, AHR, and GFI1B genes may be positively regulated by DACH1. Furthermore, we observed an upregulation of DACH1 during in vitro differentiation of CD34–megakaryocytes and downregulation of DACH1 in patients with thrombocytopenia. In summary, our findings shed light on one of the molecular mechanisms behind LT-induced thrombocytopenia and unveil a previously unknown role for DACH1 in megakaryopoiesis. Full article
(This article belongs to the Special Issue Stem Cells in Health and Disease 2.0)
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17 pages, 3410 KB  
Article
The DACH1 Gene Transcriptional Activation and Protein Degradation Mediated by Transactivator Tas of Prototype Foamy Virus
by Yongping Ma, Jie Wei, Jing Song, Zhongxiang Hu, Ruifen Zhang, Zhi Li and Yan Sun
Viruses 2023, 15(9), 1899; https://doi.org/10.3390/v15091899 - 8 Sep 2023
Cited by 1 | Viewed by 2626
Abstract
Foamy viruses are members of the Retroviridae family’s Spumaretrovirinae subfamily. They induce cell vacuolation and exhibit a foamy pathogenic impact after infecting cells. DACH1 (dachshund family transcription factor 1) is a crucial cytokine linked to tumor development, and is associated with the growth [...] Read more.
Foamy viruses are members of the Retroviridae family’s Spumaretrovirinae subfamily. They induce cell vacuolation and exhibit a foamy pathogenic impact after infecting cells. DACH1 (dachshund family transcription factor 1) is a crucial cytokine linked to tumor development, and is associated with the growth of many different malignant tumor cells. Additionally, DACH1 suppresses pancreatic cell proliferation and is involved in diabetes insulin signaling. Prototype foamy viruses (PFVs) were used for the investigation of the regulatory mechanism of FVs on cellular DACH1 expression. The results show that DACH1 expression in PFV-infected cells was inconsistent at both the transcriptional and protein levels. At the transcriptional level, DACH1 was significantly activated by PFV transactivator Tas, and dual-luciferase reporter gene tests, EMSA, and ChIP assays found a Tas response element of 21 nucleotides in the DACH1 promoter. PFV and Tas did not boost the levels of DACH1 protein in a manner consistent with the high levels of DACH1 transcription expression. It was noted that Tas increased the expression of the Ser/Thr protein phosphatase PPM1E, causing PPM1E-mediated post-translational SUMOylation alterations of DACH1 to prompt DACH1 to degrade. The reason for DACH1 protein degradation is that DACH1 inhibits PFV replication. To sum up, these findings show that PFV upregulated the transcription of DACH1, while urging its protein into PPM1E-mediated SUMOylation, to eliminate the adverse effect of DACH1 overexpression of host cells on viral replication and promote virus survival. Full article
(This article belongs to the Section Animal Viruses)
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16 pages, 3295 KB  
Article
Clinical Occurrences in the Neurorehabilitation of Dogs with Severe Spinal Cord Injury
by Débora Gouveia, Sara Fonseca, Carla Carvalho, Ana Cardoso, António Almeida, Óscar Gamboa, Rute Canejo-Teixeira, António Ferreira and Ângela Martins
Animals 2023, 13(7), 1164; https://doi.org/10.3390/ani13071164 - 25 Mar 2023
Cited by 5 | Viewed by 6923
Abstract
This prospective observational clinical study in a population of tetraplegic and paraplegic dogs (n = 488) with or without deep pain sensation, similar to humans ASIA A and B, investigated the prevalence of clinical occurrences in a rehabilitation center with a hospitalization [...] Read more.
This prospective observational clinical study in a population of tetraplegic and paraplegic dogs (n = 488) with or without deep pain sensation, similar to humans ASIA A and B, investigated the prevalence of clinical occurrences in a rehabilitation center with a hospitalization regime between 15 days and 9 months. A checklist of occurrences was used for easy identification and monitoring, resulting in a total of 79.5% occurrences. There were 58% of dogs with neurogenic bladder, 35.5% with diarrhea, 21.3% with urinary incontinence, and 20.5% with fecal incontinence. A low incidence of respiratory problems (e.g., pneumonia) and urinary tract infections may suggest the efficacy of some applied measures in this study, such as thoracic and abdominal POCUS evaluation, positioning strategies, physical exercises, respiratory kinesiotherapy, and early implementation of a functional neurorehabilitation protocol. These can be essential measures to prevent clinical occurrences, mainly in breeds such as the French Bulldog and the Dachshund. Full article
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14 pages, 1786 KB  
Article
Dog Owners’ Attitude toward Veterinary Antibiotic Use and Antibiotic Resistance with a Focus on Canine Diarrhea Management
by Alessia Candellone, Paola Badino, Flavia Girolami, Ugo Ala, Floriana Mina and Rosangela Odore
Animals 2023, 13(6), 1061; https://doi.org/10.3390/ani13061061 - 15 Mar 2023
Cited by 12 | Viewed by 4743
Abstract
An ad hoc questionnaire was designed in order to investigate AMR knowledge amongst Italian dog owners, owner expectations concerning pharmacological treatment of canine AD, and client attitudes towards and compliance with alternative strategies to antimicrobial administration. A total of 250 questionnaires were returned. [...] Read more.
An ad hoc questionnaire was designed in order to investigate AMR knowledge amongst Italian dog owners, owner expectations concerning pharmacological treatment of canine AD, and client attitudes towards and compliance with alternative strategies to antimicrobial administration. A total of 250 questionnaires were returned. Most of respondents were female, aged 36–70 and workers. More than a half of participants owned one dog with mixed breed, with Labrador retriever, golden retriever, dachshund, and border collie being the most represented breeds. On average, each dog was treated with an oral antibiotic 1.044 times per year. Intestinal diseases were among the main reasons (19%) for antibiotic prescription. Oral antibiotic courses without veterinary consultation (21%) and anticipated termination of the therapy (17.1%) were less common than reported elsewhere. The majority of respondents knew the meaning of AMR with a significant inverse association between the level of education and the tendency to administer antimicrobials without consulting a clinician (p = 0.004). Most of the owners expected a rapid recovery of clinical signs after a first episode of AD and accepted natural dietary supplementation for treating the condition. Ninety-five percent of the respondents believed that public funding should be spent to study AMR. Even though an acceptable degree of AMR awareness emerged, we feel that further efforts should be made to increase public AMR knowledge and to stimulate proactive measures to fight the phenomenon. On the other hand, the development of guidelines for the treatment of uncomplicated canine AD would help clinicians to rationalize antimicrobial use. Full article
(This article belongs to the Section Companion Animals)
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8 pages, 748 KB  
Article
The Effects of FGF4 Retrogenes on Canine Morphology
by Danika Bannasch, Kevin Batcher, Fabienne Leuthard, Michael Bannasch, Petra Hug, Denis J. Marcellin-Little, Peter J. Dickinson, Michaela Drögemüller, Cord Drögemüller and Tosso Leeb
Genes 2022, 13(2), 325; https://doi.org/10.3390/genes13020325 - 10 Feb 2022
Cited by 19 | Viewed by 7920
Abstract
Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and [...] Read more.
Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers). Since most breeds do not segregate both of these retrogenes, it is challenging to evaluate their individual effects on long bone length and body size. We identified two dog breeds selected for hunting ability, the Alpine Dachsbracke and the Schweizer Niederlaufhund, that segregate both of these retrogenes. Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes within these breeds. We applied multivariable linear regression analysis to determine the effects of retrogene copy numbers on the measurements. Copy numbers of both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth. Selectively breeding dogs with FGF4L1 and without FGF4L2 would likely lead to a reduction in the FGF4L2-related risk of intervertebral disc herniation while maintaining the reduction in leg length resulting from FGF4L1. Full article
(This article belongs to the Special Issue Canine Genetics 2)
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8 pages, 1307 KB  
Article
MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1
by Matthias Christen, Madeleine de le Roi, Vidhya Jagannathan, Kathrin Becker and Tosso Leeb
Genes 2021, 12(10), 1479; https://doi.org/10.3390/genes12101479 - 23 Sep 2021
Cited by 11 | Viewed by 6466
Abstract
A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had visible coat color dilution and was unable to hold [...] Read more.
A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period. Histopathological examination revealed an accumulation of clumped melanin and deposition of accumulated keratin within the hair follicles, accompanied by dermal pigmentary incontinence. These dermatological changes were compatible with the histopathology described in dogs with an MLPH-related dilute coat color. We sequenced the genome of the affected dog and compared the data to 795 control genomes. MYO5A, coding for myosin VA, was investigated as the top functional candidate gene. This search revealed a private homozygous frameshift variant in MYO5A, XM_022412522.1:c.4973_4974insA, predicted to truncate 269 amino acids (13.8%) of the wild type myosin VA protein, XP_022268230.1:p.(Asn1658Lysfs*28). The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 142 additionally genotyped, unrelated Dachshund dogs. MYO5A loss of function variants cause Griscelli type 1 syndrome in humans, lavender foal in horses and the phenotype of the dilute mouse mutant. Based on the available data, together with current knowledge on other species, we propose the identified MYO5A frameshift insertion as a candidate causative variant for the observed dermatological and neurological signs in the investigated dog. Full article
(This article belongs to the Special Issue Canine Genetics 2)
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15 pages, 7100 KB  
Article
Digital Lesions in Dogs: A Statistical Breed Analysis of 2912 Cases
by Julia Maria Grassinger, Andreas Floren, Tobias Müller, Argiñe Cerezo-Echevarria, Christoph Beitzinger, David Conrad, Katrin Törner, Marlies Staudacher and Heike Aupperle-Lellbach
Vet. Sci. 2021, 8(7), 136; https://doi.org/10.3390/vetsci8070136 - 17 Jul 2021
Cited by 20 | Viewed by 11655
Abstract
Breed predispositions to canine digital neoplasms are well known. However, there is currently no statistical analysis identifying the least affected breeds. To this end, 2912 canine amputated digits submitted from 2014–2019 to the Laboklin GmbH & Co. KG for routine diagnostics were statistically [...] Read more.
Breed predispositions to canine digital neoplasms are well known. However, there is currently no statistical analysis identifying the least affected breeds. To this end, 2912 canine amputated digits submitted from 2014–2019 to the Laboklin GmbH & Co. KG for routine diagnostics were statistically analyzed. The study population consisted of 155 different breeds (most common: 634 Mongrels, 411 Schnauzers, 197 Labrador Retrievers, 93 Golden Retrievers). Non-neoplastic processes were present in 1246 (43%), tumor-like lesions in 138 (5%), and neoplasms in 1528 cases (52%). Benign tumors (n = 335) were characterized by 217 subungual keratoacanthomas, 36 histiocytomas, 35 plasmacytomas, 16 papillomas, 12 melanocytomas, 9 sebaceous gland tumors, 6 lipomas, and 4 bone tumors. Malignant neoplasms (n = 1193) included 758 squamous cell carcinomas (SCC), 196 malignant melanomas (MM), 76 soft tissue sarcomas, 52 mast cell tumors, 37 non-specified sarcomas, 29 anaplastic neoplasms, 24 carcinomas, 20 bone tumors, and 1 histiocytic sarcoma. Predisposed breeds for SCC included the Schnauzer (log OR = 2.61), Briard (log OR = 1.78), Rottweiler (log OR = 1.54), Poodle (log OR = 1.40), and Dachshund (log OR = 1.30). Jack Russell Terriers (log OR = −2.95) were significantly less affected by SCC than Mongrels. Acral MM were significantly more frequent in Rottweilers (log OR = 1.88) and Labrador Retrievers (log OR = 1.09). In contrast, Dachshunds (log OR = −2.17), Jack Russell Terriers (log OR = −1.88), and Rhodesian Ridgebacks (log OR = −1.88) were rarely affected. This contrasted with the well-known predisposition of Dachshunds and Rhodesian Ridgebacks to oral and cutaneous melanocytic neoplasms. Further studies are needed to explain the underlying reasons for breed predisposition or “resistance” to the development of specific acral tumors and/or other sites. Full article
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12 pages, 978 KB  
Article
An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds
by Reinhard Mischke, Julia Metzger and Ottmar Distl
Genes 2021, 12(7), 1065; https://doi.org/10.3390/genes12071065 - 13 Jul 2021
Cited by 2 | Viewed by 2882
Abstract
Congenital fibrinogen disorders are very rare in dogs. Cases of afibrinogenemia have been reported in Bernese Mountain, Bichon Frise, Cocker Spaniel, Collie, Lhasa Apso, Viszla, and St. Bernard dogs. In the present study, we examined four miniature wire-haired Dachshunds with afibrinogenemia and ascertained [...] Read more.
Congenital fibrinogen disorders are very rare in dogs. Cases of afibrinogenemia have been reported in Bernese Mountain, Bichon Frise, Cocker Spaniel, Collie, Lhasa Apso, Viszla, and St. Bernard dogs. In the present study, we examined four miniature wire-haired Dachshunds with afibrinogenemia and ascertained their pedigree. Homozygosity mapping and a genome-wide association study identified a candidate genomic region at 50,188,932–64,187,680 bp on CFA15 harboring FGB (fibrinogen beta chain), FGA (fibrinogen alpha chain), and FGG (fibrinogen gamma-B chain). Sanger sequencing of all three fibrinogen genes in two cases and validation of the FGA-associated mutation (FGA:g.6296delT, NC_006597.3:g.52240694delA, rs1152388481) in pedigree members showed a perfect co-segregation with afibrinogenemia-affected phenotypes, obligate carriers, and healthy animals. In addition, the rs1152388481 variant was validated in 393 Dachshunds and samples from 33 other dog breeds. The rs1152388481 variant is predicted to modify the protein sequence of both FGA transcripts (FGA201:p.Ile486Met and FGA-202:p.Ile555Met) leading to proteins truncated by 306 amino acids. The present data provide evidence for a novel FGA truncating frameshift mutation that is very likely to explain the cases of severe bleeding due to afibrinogenemia in a Dachshund family. This mutation has already been spread in Dachshunds through carriers before cases were ascertained. Genetic testing allows selective breeding to prevent afibrinogenemia-affected puppies in the future. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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