Download or read book Molecular Genetic Studies of Canine Inherited Diseases written by Fabiana Helena Geraldo Farias and published by . This book was released on 2011 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: The domestic dog has advantageous genome information ideal for mapping genes that cause disease. Humans share many diseases with dogs, which makes dogs an ideal model for studying the comparative genetics of disease. The availability of a canine genome reference sequence and high density SNP chips has facilitated the study of inherited diseases in dogs. The identification of gene-causing diseases in dogs is of relevance for human health. Here we describe the identification of causative mutations for three different canine diseases in orthologs of genes associated with orthologous human diseases. Among these, we describe what may prove to be the first inherited canine disease to be identified by whole genome sequencing. We discuss the importance of these finding and suggest future studies for each project.
Download or read book Molecular Genetic Studies of Canine Inherited Diseases Including SAMS Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy written by Douglas H. Gilliam (Jr.) and published by . This book was released on 2016 with total page 93 pages. Available in PDF, EPUB and Kindle. Book excerpt: The genome of Canis lupus familiaris, the domestic dog, is an ideal tool for the study of inherited diseases. Its genome is uniquely suited for the mapping of genes that cause disease, and its reference genome has been published since 2008. Dogs and humans share many of the same diseases, making them an ideal model for the study of comparative genetics. The identification of disease-causing genes in dogs has relevance to human health. We here describe the identification of causal mutations for three different canine diseases in orthologs of genes with orthologous human diseases. We used Next Generation Sequencing in order to generate Whole Genome Sequences for 145 dogs from 69 different breeds with various inherited canine diseases, most of which were suspected to be inherited recessively. We here report the discovery of the causes of; Spinocerebellar Ataxia with Myokymia and Seizures in Russell-Group Terriers, Neuronal Ceroid Lipofuscinosis in Golden Retrievers and Dilated Cardiomyopathy in Standard Schnauzers. While all three were identified via whole genome sequencing, different methodologies and techniques were used to discover and validate the findings. We discuss the importance of these studies and suggest future studies for the projects as well as possible other means of discovering potential canine disease models via Whole Genome Sequencing. Summaries of these three findings are provided in the next three paragraphs. Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures and other signs, thus more than one form of the disease has been suspected. Our objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia and/or seizures and distinguish the phenotype from other ataxias seen in the RGTs. We collected DNA samples from 16 RGTs with signs of spinocerebellar ataxia beginning from 2-to-12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs in order to elucidate the genetic cause of this disease. Whole-genome sequencing was performed on one RGT with ataxia and myokymia. Unique, homozygous variants were identified in this dog by comparing its sequence to whole-genome sequences from 81 other canids. We found a missense mutation in the gene coding for the inward rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) that was significantly associated with the disease. Dogs homozygous for the mutant allele all showed spinocerebellar ataxia with varying combinations of myokymia, seizures and other signs. The identification of a mutation in KCNJ10 in dogs with spinocerebellar ataxia with myokymia and/or seizures (SAMS) clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers. Understanding the role the Kir4.1 channel plays in extracellular potassium buffering by astrocytes could shed light on other conditions characterized by excessive neuronal membrane excitability such as other forms of ataxia, epilepsy and myokymia. We studied a recessive, progressive neurodegenerative disease occurring in Golden Retriever siblings with an onset of signs at 15 months of age. As the disease progressed these signs included ataxia, anxiety, pacing and circling, tremors, aggression, visual impairment and localized and generalized seizures. A whole genome sequence, generated with DNA from one affected dog, contained a plausibly causal homozygous mutation: CLN5:c.934_935delAG. This mutation was predicted to produce a frameshift and premature termination codon and encode a protein variant, CLN5:p.E312Vfs*6, which would lack 39 C-terminal amino acids. Eighteen DNA samples from the Golden Retriever family members were genotyped at CLN5:c.934_935delAG. Three clinically affected dogs were homozygous for the deletion allele; whereas, the clinically normal family members were either heterozygotes (n = 11) or homozygous for the reference allele (n = 4). Among archived Golden Retrievers DNA samples with incomplete clinical records that were also genotyped at the CLN5:c.934_935delAG variant, 1053 of 1062 were homozygous for the reference allele, 8 were heterozygotes and one was a deletion-allele homozygote. When contacted, the owner of this homozygote indicated that that their dog had been euthanized because of a neurologic disease that progressed similarly to that of the affected Golden Retriever siblings. We have collected and stored semen from a heterozygous Golden Retriever, thereby preserving an opportunity for us or others to establish a colony of CLN5-deficient dogs. Young-adult onset dilated cardiomyopathy (DCM) segregates in the Standard Schnauzer dog breed in a pattern consistent with an autosomal recessive mode of inheritance. To identify the molecular genetic cause of Standard Schnauzer DCM, DNA from an affected dog was used to generate a whole genome sequence with 31-fold average coverage. Among the sequence variants in this whole genome sequence was a 22-bp deletion and frameshift in RBM20, the canine ortholog of a gene previously associated with human DCM. The RBM20 deletion allele was homozygous in the whole genome sequence of the affected Schnauzer, but absent from 101 whole genome sequences of normal canids or dogs with other diseases. An additional 753 Standard Schnauzers, including 21 with DCM, were genotyped for the RBM20 deletion. In this cohort, all 20 of the deletion-allele homozygotes had DCM, only one of the 183 heterozygous dogs had DCM, and all of the reference-allele homozygotes were DCM free. RBM20 deficiency is known to alter exon-splicing patterns and produced aberrant titin isoforms in a rat model and in human DCM patients. To determine if the Standard Schnauzers with DCM had similar exon-splicing abnormalities, RNA prepared from their left ventricular walls was compared by RT-PCR to similarly prepared RNA from normal adult dogs. Titin transcripts with extensive exon skipping were detected in the normal RNA but not in the RNA from the dogs with DCM. Conversely, titin transcripts with retained exons were detected in the RNA from dogs with DCM but not in the normal-dog RNA. Thus, we have identified a canine model for human RBM20-associated DCM. While all three were identified via whole genome sequencing, different methodologies and techniques were used to discover and validate the findings. We discuss the importance of these studies and suggest future studies for the projects as well as possible other means of discovering potential canine disease models via Whole Genome Sequencing.
Download or read book Molecular Genetic Studies in Canine Inherited Diseases Including Neonatal Cerebellar Ataxia Degenerative Myelopathy and Multiple System Degeneration written by Rong Zeng and published by . This book was released on 2013 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inherited diseases of the domestic dog mimic a wide spectrum of common human disorders. By identifying the genes that harbor the mutations underlying dog diseases we not only provide powerful diagnostic DNA tests for dog breeders their veterinarians and but also provide spontaneously occurring canine models for human diseases. Since the first high quality dog genome reference sequence was published and made publically accessible, various molecular strategies have been applied in the canine genetic studies including candidate gene analysis, linkage analysis, and genome-wide allele association studies. Most recently our lab has focused on the discovery of causal sequence variants in the next generation whole-genome sequences of individual affected dogs. This has enabled us to identify disease-causing genes in dogs with relevance for human health. We describe here the identification of causative mutations for three different canine diseases: neonatal cerebellar ataxia, canine degenerative myelopathy and canine multiple system degeneration. In addition, we discuss the potential importance of these canine diseases if used as human disease models.
Download or read book Molecular Basis of Inherited Diseases in Companion Animals written by Danika Bannasch and published by MDPI. This book was released on 2021-04-08 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book includes a collection of publications describing the molecular etiology of inherited diseases and conditions in companion animals (dogs and cats). In addition to contributing to the health of companion animals, this research also benefits humans that have similar types of diseases.
Download or read book Molecular Genetics and Canine Genetic Health Conference October 7 8 1994 written by and published by . This book was released on 1994 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Control of Canine Genetic Diseases written by George A. Padgett and published by Turner Publishing Company. This book was released on 2008-05-05 with total page 266 pages. Available in PDF, EPUB and Kindle. Book excerpt: If you breed dogs for any reason, you must own this book. Genetic diseases are among the most serious hazards on the landscape of modern dog breeding and one of the most vexing challenges facing today's dog breeders. Is it appropriate to open the gene pool to unwanted conditions in the pursuit of physical perfection, or must breeding to the Standard take a back seat to producing healthy animals? In Control of Canine Genetic Diseases, renowned authority George A. Padgett, DVM, provides an expert road map to help dog breeders everywhere avoid the pitfalls they are almost destined to encounter. For anyone whose goal is to produce healthy, functional and beautiful dogs, this is the book they need. Dr. Padgett provides clear explanations of modes of inheritance, how to conduct and analyze test matings and how to lower the chances of producing affected animals. Numerous tables, diagrams and graphs further enhance the text to facilitate the breeder's understanding. A Howell Dog Book of Distinction
Download or read book Genetics of the Dog written by Elaine A. Ostrander and published by CABI. This book was released on 2012-01-01 with total page 537 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognizing the significant advances made in the field of animal genetics in the ten years since the first edition of "The Genetics of the Dog", this new edition of the successful 2001 book provides a comprehensive update on the subject, along with new material on topics of current and growing interest. Existing chapters on essential topics such as immunogenetics, genetics of diseases, developmental genetics and the genetics of behaviour have been fully updated, while new authors report on the latest advances in areas such as genetic diversity of dog breeds, canine genomics, olfactor.
Download or read book Molecular Genetic Studies on Canine Hip Dysplasia written by Michael Olivier and published by . This book was released on 1998 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Genetics Gene Transfer and Therapy written by and published by Elsevier. This book was released on 1997-10-01 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt: Animal science is being transformed by advances in molecular genetics. This book covers this exciting transformation. Both the diagnosis and treatment of disease are discussed in seven chapters by a team of leading international authorities. From oncogenesis and hemophilia to retroviral virulence and genome mapping, this volume yields an understanding of fundamental mechanisms of action and insightful means of diagnosis and treatment. Practicing veterinarians and researchers in animal science will find this book useful.
Download or read book Molecular Basis of Inherited Diseases in Companion Animals written by Danika Bannasch and published by . This book was released on 2021 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book includes a collection of publications describing the molecular etiology of inherited diseases and conditions in companion animals (dogs and cats). In addition to contributing to the health of companion animals, this research also benefits humans that have similar types of diseases.
Download or read book Canine Hereditary Studies written by Anje Cornelia Wiersma and published by . This book was released on 2007 with total page 159 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Genetics and Canine Genetic Health Conference 1997 October 31 and November 1 1997 written by and published by . This book was released on 1997 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Genetic Studies in the Dog written by Robin Edward Everts and published by . This book was released on 2000 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Comparative genetic studies in the dog; application to fragmented coronoid process (FCP) in the Labrador retriever"--Autho.
Download or read book Determining the Antiquity of Dog Origins written by Michelle Jeanette Raisor and published by British Archaeological Reports Oxford Limited. This book was released on 2005 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 400 varieties of dog can be found today; this study investigates the archaeological and genetic evidence for their origins.
Download or read book The Dog and Its Genome written by Elaine A. Ostrander and published by CSHL Press. This book was released on 2007-04-03 with total page 606 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dogs of different breeds can range remarkably in size, shape, and behavior, and yet they all carry essentially the same genome, making them a particularly fascinating model for genome plasticity. The recent release of the complete sequence of the dog genome provides an exciting new context in which to consider such variation. Twentyfive chapters written by experts in the field include various aspects of morphological and behavioral variation in dogs, their origins and domestication, and their unique value as a model system for many common but complex human diseases such as diabetes and cancer.
Download or read book A Phenotypic and Molecular Genetic Study of Canine Leukemias written by William Vernau and published by . This book was released on 2000 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Tumors in Domestic Animals written by Donald J. Meuten and published by John Wiley & Sons. This book was released on 2008-06-02 with total page 803 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the third edition of Tumors of Domestic Animals there has been an enormous expansion of our knowledge about the melocular mechanisms of tumor development and the ancillary aids used diagnose neoplasms . The fourth edition condenses this new body of information and presents it in a way that is useful to diagnostic pathologists, residents, veterinarians, and oncologists. The format of the previous editions has been maintained, but the text and the illustrations are substantially changed or entirely different. Readers will be able to find salient clinical information, prevalence data, biological behavior, and most importantly, accurate information about gross and microscopic lesions to help diagnostic pathologists establish an accurate morphological diagnosis. The editor and authors of Tumors of Domestic Animals,all recognized experts in their fields, recognize the need for accurate morpological diagnoses in veterinary patient care, particularly with the numerous treatment modalities now available to oncologists and owners. This landmark reference in veterinary pathology provides the applicable information that clinical veterinarians need and want to make decisions about treatment of the animals in their care.
