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Start Over Author "Utsunomiya, Y. T." Topic dogs
3 results on '"Utsunomiya, Y. T."'

1. Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs.

Author

Torrecilha RBP, Milanesi M, Wade CM, Gallana M, Falbo AK, Reichler IM, Hug P, Jagannathan V, Trigo BB, Paulan SC, Bruno DB, Garcia SD, Scaramele NF, Lopes FL, Dolf G, Leeb T, Sölkner J, Garcia JF, Pieńkowska-Schelling A, Schelling C, and Utsunomiya YT

Subjects
Amino Acid Sequence, Animals, Breeding, Female, Genetic Association Studies veterinary, Genotype, Male, Pedigree, Phenotype, Dogs genetics, Growth Differentiation Factor 9 genetics, Litter Size genetics, Mutation, Missense
Abstract

In the past two decades, average litter size (ALS) in Entlebucher Mountain dogs decreased by approximately 0.8 puppies. We conducted a GWAS for ALS using the single-step methodology to take advantage of 1632 pedigree records, 892 phenotypes and 372 genotypes (173 662 markers) for which only 12% of the dogs had both phenotypes and genotypes available. Our analysis revealed associations towards the growth differentiation factor 9 gene (GDF9), which is known to regulate oocyte maturation. The trait heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS. Analysis of WGSs revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (-0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids., (© 2019 Stichting International Foundation for Animal Genetics.)

Published
2020
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2. Genome-wide association study and heritability estimate for ectopic ureters in Entlebucher mountain dogs.

Author

Gallana M, Utsunomiya YT, Dolf G, Pintor Torrecilha RB, Falbo AK, Jagannathan V, Leeb T, Reichler I, Sölkner J, and Schelling C

Subjects
Animals, Breeding, Genetic Association Studies, Genetic Predisposition to Disease, Phenotype, Urinary Incontinence, Dog Diseases genetics, Dogs genetics, Polymorphism, Single Nucleotide, Ureter abnormalities
Abstract

An ectopic ureter is a congenital anomaly which may lead to urinary incontinence and without a surgical intervention even to end-stage kidney disease. A genetic component contributes to the development of this anomaly in Entlebucher mountain dogs (EMD); however, its nature remains unclear. Using the Illumina CanineHD bead chip, a case-control genome-wide association study was performed to identify SNPs associated with the trait. Six loci on canine chromosomes 3, 17, 27 and 30 were identified with 16 significantly associated SNPs. There was no single outstanding SNP associated with the phenotype, and the association signals were not close to known genes involved in human congenital anomalies of the kidney or lower urinary tract. Additional research will be necessary to elucidate the potential role of the associated genes in the development of ectopic ureters in the EMD breed., (© 2018 Stichting International Foundation for Animal Genetics.)

Published
2018
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3. Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs

Author

Silvana de Cássia Paulan, Vidya Jagannathan, D B Bruno, Aldona Pieńkowska-Schelling, Rafaela Beatriz Pintor Torrecilha, José Fernando Garcia, Marco Milanesi, Petra Hug, Tosso Leeb, Beatriz Batista Trigo, Gaudenz Dolf, Flavia L. Lopes, M. Gallana, Yuri Tani Utsunomiya, S D Garcia, A-K Falbo, Iris M Reichler, N F Scaramele, Claude Schelling, Johann Sölkner, University of Zurich, Utsunomiya, Y T, Universidade Estadual Paulista (Unesp), International Atomic Energy Agency Collaborating Centre on Animal Genomics and Bioinformatics, Vetsuisse-Faculty University of Zurich, Vetsuisse-Faculty University of Bern, and BOKU - University of Natural Resource and Live Sciences

Subjects
0301 basic medicine, Male, Canis lupus familiaris, Genotype, Litter Size, Mutation, Missense, Growth Differentiation Factor 9, Genome-wide association study, Locus (genetics), Single-nucleotide polymorphism, Biology, Breeding, 03 medical and health sciences, Dogs, 1311 Genetics, single nucleotide polymorphism, Genetics, Missense mutation, Animals, Amino Acid Sequence, Allele, 610 Medicine & health, Gene, single, Genetic Association Studies, 630 Agriculture, step genomic best linear unbiased prediction, 0402 animal and dairy science, single-step genomic best linear unbiased prediction, 04 agricultural and veterinary sciences, General Medicine, Heritability, 040201 dairy & animal science, multiple ovulation, Pedigree, 10187 Department of Farm Animals, 030104 developmental biology, Phenotype, number of offspring, 570 Life sciences, biology, 590 Animals (Zoology), Animal Science and Zoology, Female, 1103 Animal Science and Zoology
Abstract

Made available in DSpace on 2020-12-12T01:07:41Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-02-01 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) In the past two decades, average litter size (ALS) in Entlebucher Mountain dogs decreased by approximately 0.8 puppies. We conducted a GWAS for ALS using the single-step methodology to take advantage of 1632 pedigree records, 892 phenotypes and 372 genotypes (173 662 markers) for which only 12% of the dogs had both phenotypes and genotypes available. Our analysis revealed associations towards the growth differentiation factor 9 gene (GDF9), which is known to regulate oocyte maturation. The trait heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS. Analysis of WGSs revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (−0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids. Department of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n International Atomic Energy Agency Collaborating Centre on Animal Genomics and Bioinformatics, Clóvis Pestana, 793 Department of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Clinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Eschikon 27 Clinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Winterthurerstr. 260 Institute of Genetics Vetsuisse-Faculty University of Bern, Bremgartenstrasse 109A Department of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Division of Livestook Sciences Department of Sustainable Agriculture System BOKU - University of Natural Resource and Live Sciences, Gregor-Mendel-Straße 33 Department of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n Department of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Department of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 FAPESP: 2016/05787-7 FAPESP: 2017/08373-1

Published
2019

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