| 1. |
- Vaysse, Amaury, et al.
(författare)
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Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
- 2011
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:10, s. e1002316-
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Tidskriftsartikel (refereegranskat)abstract
- The extraordinary phenotypic diversity of dog breeds has been sculpted by a unique population history accompanied by selection for novel and desirable traits. Here we perform a comprehensive analysis using multiple test statistics to identify regions under selection in 509 dogs from 46 diverse breeds using a newly developed high-density genotyping array consisting of >170,000 evenly spaced SNPs. We first identify 44 genomic regions exhibiting extreme differentiation across multiple breeds. Genetic variation in these regions correlates with variation in several phenotypic traits that vary between breeds, and we identify novel associations with both morphological and behavioral traits. We next scan the genome for signatures of selective sweeps in single breeds, characterized by long regions of reduced heterozygosity and fixation of extended haplotypes. These scans identify hundreds of regions, including 22 blocks of homozygosity longer than one megabase in certain breeds. Candidate selection loci are strongly enriched for developmental genes. We chose one highly differentiated region, associated with body size and ear morphology, and characterized it using high-throughput sequencing to provide a list of variants that may directly affect these traits. This study provides a catalogue of genomic regions showing extreme reduction in genetic variation or population differentiation in dogs, including many linked to phenotypic variation. The many blocks of reduced haplotype diversity observed across the genome in dog breeds are the result of both selection and genetic drift, but extended blocks of homozygosity on a megabase scale appear to be best explained by selection. Further elucidation of the variants under selection will help to uncover the genetic basis of complex traits and disease.
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| 2. |
- Tidholm, Anna, et al.
(författare)
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Congenital heart defects in cats: a retrospective study of 162 cats (1996-2013)
- 2015
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Ingår i: Journal of Veterinary Cardiology. - : Elsevier BV. - 1760-2734 .- 1875-0834. ; 17, s. S215-S219
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To study the prevalence and distribution of congenital heart defects in cats presented at two referral centers in Sweden between 1996 and 2013.Animals: 162 client-owned cats with congenital heart defects.Methods: Case records of cats diagnosed with congenital heart disease were reviewed retrospectively.Results: The overall prevalence of congenital heart disease was 0.2% of the total number of patient cats, and 8% of cats diagnosed with heart disease. A total of 182 heart defects were identified as 16 cats were diagnosed with more than one defect. Ventricular septal defect (VSD) was most prevalent, found in 50% of cats, followed by tricuspid valve dysplasia (11%), pulmonic stenosis (10%), atrial septal defect (10%), aortic stenosis (9%), mitral valve dysplasia (9%), tetralogy of Faltot (5%), patent ductus arteriosus (3%), common atrioventricular canal (2%), and the following defects that each accounted for 0.6% of cats: double chamber right ventricle, double outlet right ventricle, endocardial fibroelastosis, dextroposition of the aorta, persistent right aortic arch, and pulmonary atresia.Conclusion: The prevalence of congenital heart disease was 0.2% of the total number of patient cats, and 8% of cats diagnosed with heart disease. Ventricular septal defect was the most common congenital heart defect in this study. (C) 2014 Elsevier B.V. All rights reserved.
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| 3. |
- Wang, Chao, et al.
(författare)
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A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
- 2021
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Ingår i: Communications Biology. - : Springer Nature. - 2399-3642. ; 4:1
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Tidskriftsartikel (refereegranskat)abstract
- We present GSD_1.0, a high-quality domestic dog reference genome with chromosome length scaffolds and contiguity increased 55-fold over CanFam3.1. Annotation with generated and existing long and short read RNA-seq, miRNA-seq and ATAC-seq, revealed that 32.1% of lifted over CanFam3.1 gaps harboured previously hidden functional elements, including promoters, genes and miRNAs in GSD_1.0. A catalogue of canine "dark" regions was made to facilitate mapping rescue. Alignment in these regions is difficult, but we demonstrate that they harbour trait-associated variation. Key genomic regions were completed, including the Dog Leucocyte Antigen (DLA), T Cell Receptor (TCR) and 366 COSMIC cancer genes. 10x linked-read sequencing of 27 dogs (19 breeds) uncovered 22.1 million SNPs, indels and larger structural variants. Subsequent intersection with protein coding genes showed that 1.4% of these could directly influence gene products, and so provide a source of normal or aberrant phenotypic modifications. Here, the authors report an improved de novo reference genome for the domestic dog based on a female German Shepherd named Mischka. The new genome increases contiguity 55-fold over the previous dog assembly and uncovers functional elements that were not previously identifiable.
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| 4. |
- Rohdin, Cecilia, et al.
(författare)
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High prevalence of gait abnormalities in pugs
- 2018
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Ingår i: Veterinary Record. - : Wiley. - 0042-4900 .- 2042-7670. ; 182, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this prospective study was to determine the prevalence of gait abnormalities in a cohort of Swedish pugs by using an owner-based questionnaire targeting signs of gait abnormality and video footage showing the dog's gait. This study also evaluated associated conditions of abnormal gait, including other health disorders prevalent in the breed. Five hundred and fifty (550) pugs registered in the Swedish Kennel Club, of one, five and eight years of age, in 2015 and 2016, were included in the study. Gait abnormalities were reported in 30.7 per cent of the responses. In the majority of cases, the character of the described gait indicated a neurological cause for the gait abnormality. An association was observed between abnormal gait and age, with gait abnormalities being significantly more common in older pugs (P=0.004). An association was also found between abnormal gait and dyspnoea, with dyspnoea being significantly more common in pugs with gait abnormalities (P<0.0001). This study demonstrated that the prevalence of gait abnormalities was high in the Swedish pug breed and increased with age. Future studies on the mechanisms behind these gait abnormalities are warranted.
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| 5. |
- Rohdin, Cecilia, et al.
(författare)
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Presence of thoracic and lumbar vertebral malformations in pugs with and without chronic neurological deficits
- 2018
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Ingår i: The Veterinary Journal. - : Elsevier BV. - 1090-0233 .- 1532-2971. ; 241, s. 24-30
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Tidskriftsartikel (refereegranskat)abstract
- Congenital vertebral malformations (CVMs) are common in brachycephalic dogs such as the pug, and are often considered incidental findings. However, specific CVMs have been suggested to be associated with neurological deficits in pugs. The objective of this study was to investigate the clinical importance of CVMs in the pug by comparing computed tomography studies of the thoracolumbar spine from pugs without neurological deficits with those from pugs with a confirmed T3-L3 spinal cord lesion and neurological deficits consistent with a chronic T3-L3 myelopathy. A total of 57 pugs were recruited into the study from Sweden (n=33), United Kingdom (n=21) and Norway (n = 3); 30 with neurological deficits and 27 without. Focal T3-L3 pathology was confirmed in all pugs with neurological deficits by magnetic resonance imaging (n = 29) and/or pathology (n = 15). Computed tomography studies of the thoracolumbar spine from pugs with and without neurological deficits were compared to investigate possible associations between presentation of neurological deficits consistent with chronic T3-L3 pathology and signalment variables, presence of CVMs and type of CVMs. Congenital vertebral malformations were as common in pugs with, as in pugs without, neurological deficits. Regardless of neurological status, the majority of pugs (96%) presented with one or more CVM. An association between presence, or type of CVM in the T1-L3 vertebral column, and neurological deficits consistent with T3-L3 pathology could not be confirmed.
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| 6. |
- Lord, Peter, et al.
(författare)
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Rate of change of heart size before congestive heart failure in dogs with mitral regurgitation
- 2010
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Ingår i: Journal of Small Animal Practice. - : Wiley. - 0022-4510 .- 1748-5827. ; 51, s. 210-218
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Tidskriftsartikel (refereegranskat)abstract
- Methods: Records and radiographs from 24 cavalier King Charles spaniels with mitral regurgitation were used. Vertebral heart scale (24 dogs), and left atrial dimension and left ventricular end diastolic and end systolic diameters (18 dogs) and their rate of increase were measured at intervals over years to the onset of congestive heart failure. They were plotted against time to onset of congestive heart failure.Results: Dimensions and rates of change of all parameters were highest at onset of congestive heart failure, the difference between observed and chance outcome being highly significant using a two-tailed chi-square test (P < 0 center dot 001).Clinical significance: The left heart chambers increase in size rapidly only in the last year before the onset of congestive heart failure. Increasing left ventricular end systolic dimension is suggestive of myocardial failure before the onset of congestive heart failure. Rate of increase of heart dimensions may be a useful indicator of impending congestive heart failure.
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| 7. |
- Häggström, Jens
(författare)
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A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats
- 2020
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 11, s. 1-15
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Tidskriftsartikel (refereegranskat)abstract
- An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation, concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test and a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99 Lives dataset. The variant segregated concordantly in an extended pedigree. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasized the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.
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| 8. |
- Mäkeläinen, Suvi, et al.
(författare)
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Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs
- 2020
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Ingår i: Genes. - : MDPI. - 2073-4425. ; 11:9
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Tidskriftsartikel (refereegranskat)abstract
- In golden retriever dogs, a 1 bp deletion in the canineTTC8gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans,TTC8is also implicated in Bardet-Biedl syndrome (BBS). To investigate if the affected dogs only exhibit a non-syndromic PRA or develop a syndromic ciliopathy similar to human BBS, we recruited 10 affected dogs to the study. The progression of PRA for two of the dogs was followed for 2 years, and a rigorous clinical characterization allowed a careful comparison with primary and secondary characteristics of human BBS. In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. We used Oxford Nanopore long-read cDNA sequencing to characterize retinal full-lengthTTC8transcripts in affected and non-affected dogs, the results of which suggest that three isoforms are transcribed in the retina, and the 1 bp deletion is a loss-of-function mutation, resulting in a canine form of Bardet-Biedl syndrome with heterogeneous clinical signs.
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| 9. |
- Tidholm, Anna, et al.
(författare)
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Prognostic value of selected one-, two-and three-dimensional and Doppler echocardiographic methods to assess severity in dogs with myxomatous mitral valve disease
- 2022
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Ingår i: Journal of Veterinary Cardiology. - : Elsevier BV. - 1760-2734 .- 1875-0834. ; 39, s. 89-101
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Although challenging, predicting outcomes in dogs with myxomatous mitral valve disease (MMVD) is of importance to owners and veterinar-ians. Our aim was to compare the prognostic value of selected one-, two-, and three-dimensional and Doppler echocardiographic methods to predict cardiac-re-lated and all-cause mortality in MMVD dogs. We hypothesize that three-dimensional methods would better predict prognosis than one-and two-dimensional methods.Animals: One-hundred thirty-eight privately-owned dogs with MMVD. Materials and methods: Cox proportional Hazard analyses and Kaplan-Meier curves were used to investigate the predictive value of 14 variables; left atrial (LA) volume indexed to body weight (BW) measured by real-time three-dimensional echocardio-graphy (RT3DE) and calculated using Simpson's modified method of discs (SMOD) and the area-length method; LA diameter in short-axis and long-axis to aortic in short-axis ratio, effective regurgitant orifice area indexed to body surface area measured in RT3DE en face view and calculated using four-chamber (4Ch) and two-chamber views alone or in combination; percentage increase in left ventricular end-diastolic and systolic internal diameters; fractional shortening; E wave velo -city; regurgitant jet area/LA area. Results: All 14 variables were significantly predictive of cardiac-related mortality, and 11 were predictive of all-cause mortality. The prognosis was best predicted by LA volume/BW estimated by SMOD or RT3DE, consistently showing the highest pre-dictive value in all analyses.Conclusions: Left atrial volume calculated by SMOD showed a similar predictive va-lue compared to RT3DE. Performing SMOD from apical 4Ch images should be consid-ered an alternative to RT3DE for echocardiographic examinations where prognostication of disease outcome is sought. 2021 Elsevier B.V. All rights reserved.
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