Spelling suggestions: "subject:"alanine genetics"" "subject:"alanine kenetics""
1 |
Genetics of merle patterning in the domestic dog and gene transcript profiling and immunobiology of dermatomyositis in the shetland sheepdogWahl, Jacquelyn Marie Bell 15 May 2009 (has links)
Since its domestication, the dog has served in many roles, from protector, guide, hunter, and best friend, to model organism. Every role in which the dog serves is important; however, this work highlights the importance of the dog as a model organism for study of human hereditary diseases. Roughly half of the 450 hereditary diseases found in the dog have clinical presentations similar to those found in the human. Included in these are auditory-pigmentation conditions and skin diseases for which the dog is a working model. Described herein are studies of the merle coat pattern and dermatomyositis. Through research on these topics, important information can be obtained that can be used to help both the dog and the human. Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. This region of the human genome contains SILV, a gene important in mammalian pigmentation. Therefore, this gene was evaluated as a candidate for merle patterning. A short interspersed element insertion at the boundary of intron 10/exon 11 was found, and this insertion segregates with the merle phenotype in multiple breeds. These data show that SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems. Dermatomyositis (DM) is an inflammatory disease of the skin and muscle that occurs most often in the rough collie and Shetland Sheepdog. Gene transcript profiles were generated for affected and normal skin using a canine-specific oligonucleotide array. Two-hundred and eight-five gene transcripts, many of which are involved in immune function, were found to be differentially regulated in these tissues. Also reported are western blot, immunohistochemistry, and immunofluorescence analyses. While our work suggests that canine DM is a disease that may be immune mediated, it did not detect the production of specific disease-associated autoantibodies.
|
2 |
Genetics of merle patterning in the domestic dog and gene transcript profiling and immunobiology of dermatomyositis in the shetland sheepdogWahl, Jacquelyn Marie Bell 15 May 2009 (has links)
Since its domestication, the dog has served in many roles, from protector, guide, hunter, and best friend, to model organism. Every role in which the dog serves is important; however, this work highlights the importance of the dog as a model organism for study of human hereditary diseases. Roughly half of the 450 hereditary diseases found in the dog have clinical presentations similar to those found in the human. Included in these are auditory-pigmentation conditions and skin diseases for which the dog is a working model. Described herein are studies of the merle coat pattern and dermatomyositis. Through research on these topics, important information can be obtained that can be used to help both the dog and the human. Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. This region of the human genome contains SILV, a gene important in mammalian pigmentation. Therefore, this gene was evaluated as a candidate for merle patterning. A short interspersed element insertion at the boundary of intron 10/exon 11 was found, and this insertion segregates with the merle phenotype in multiple breeds. These data show that SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems. Dermatomyositis (DM) is an inflammatory disease of the skin and muscle that occurs most often in the rough collie and Shetland Sheepdog. Gene transcript profiles were generated for affected and normal skin using a canine-specific oligonucleotide array. Two-hundred and eight-five gene transcripts, many of which are involved in immune function, were found to be differentially regulated in these tissues. Also reported are western blot, immunohistochemistry, and immunofluorescence analyses. While our work suggests that canine DM is a disease that may be immune mediated, it did not detect the production of specific disease-associated autoantibodies.
|
3 |
Genetics of x-linked and autosomal recessive hereditary nephropathy in the domestic dogBell, Rebecca Jane 15 May 2009 (has links)
Although typically thought of as a beloved companion or indispensable aide, the
domestic dog (Canis lupus familiaris) has emerged as an excellent model for the study
of human hereditary diseases. Many hereditary diseases of the dog have nearly identical
clinical presentations as those of the human and are, most often, caused by mutations in
the same genes. One such disease is hereditary nephropathy; an inherited glomerular
disease in the domestic dog that is similar to Alport syndrome of the human. Both
diseases are caused by mutations in the type IV collagens genes, and the disease has
nearly identical pathology and clinical presentations in the dog and human. By studying
this disease in the dog, our laboratory hopes to increase understanding of the disease so
that information that can be applied to both the human and the dog. Reported here is 1)
the development of a genomic based test to determine genotypes of mixed breed dogs in
a colony presenting with X-linked hereditary nephropathy, 2) the determination of
patterns of X-chromosome inactivation in normal dogs and dogs that are carriers of Xlinked
hereditary nephropathy, 3) the design of a synthetic COL4A5 cDNA to be used
for gene therapy treatment of dogs with X-linked hereditary nephropathy, 4) the investigation of type IV collagen gene expression changes in normal dogs and those
affected with X-linked and autosomal recessive hereditary nephropathy, and 5) the
discovery of the mutation causative for autosomal recessive hereditary nephropathy in
the English Cocker Spaniel. Utilization of the colony of dogs affected with X-linked
hereditary nephropathy (for which the causative mutation was previously identified)
allowed for comparisons of type IV collagen gene expression to English Cocker Spaniels
with autosomal recessive hereditary nephropathy. These data were critical to
identification of the gene harboring the causative mutation for autosomal recessive
hereditary nephropathy. Sequencing was performed to identify the mutation. With the
ability to test for carriers of this disease, it is our hope that breeders will use it to to
maintain the desired traits in the ECS while simultaneously eliminating the production of
affected offspring.
|
4 |
Genetics of X-linked and autosomal recessive hereditary nephropathy in the domestic dogBell, Rebecca Jane 10 October 2008 (has links)
Although typically thought of as a beloved companion or indispensable aide, the
domestic dog (Canis lupus familiaris) has emerged as an excellent model for the study
of human hereditary diseases. Many hereditary diseases of the dog have nearly identical
clinical presentations as those of the human and are, most often, caused by mutations in
the same genes. One such disease is hereditary nephropathy; an inherited glomerular
disease in the domestic dog that is similar to Alport syndrome of the human. Both
diseases are caused by mutations in the type IV collagens genes, and the disease has
nearly identical pathology and clinical presentations in the dog and human. By studying
this disease in the dog, our laboratory hopes to increase understanding of the disease so
that information that can be applied to both the human and the dog. Reported here is 1)
the development of a genomic based test to determine genotypes of mixed breed dogs in
a colony presenting with X-linked hereditary nephropathy, 2) the determination of
patterns of X-chromosome inactivation in normal dogs and dogs that are carriers of X-linked
hereditary nephropathy, 3) the design of a synthetic COL4A5 cDNA to be used
for gene therapy treatment of dogs with X-linked hereditary nephropathy, 4) the investigation of type IV collagen gene expression changes in normal dogs and those
affected with X-linked and autosomal recessive hereditary nephropathy, and 5) the
discovery of the mutation causative for autosomal recessive hereditary nephropathy in
the English Cocker Spaniel. Utilization of the colony of dogs affected with X-linked
hereditary nephropathy (for which the causative mutation was previously identified)
allowed for comparisons of type IV collagen gene expression to English Cocker Spaniels
with autosomal recessive hereditary nephropathy. These data were critical to
identification of the gene harboring the causative mutation for autosomal recessive
hereditary nephropathy. Sequencing was performed to identify the mutation. With the
ability to test for carriers of this disease, it is our hope that breeders will use it to to
maintain the desired traits in the ECS while simultaneously eliminating the production of
affected offspring.
|
5 |
Transmission genetics of pancreatic acinar atrophy in the German Shepherd Dog and development of microsatellite DNA-based tools for canine forensics and linkage analysisClark, Leigh Anne 30 September 2004 (has links)
The domestic dog, Canis lupus familiaris, has emerged as a model system for the study of human hereditary diseases. Of the approximately 450 hereditary diseases described in the dog, half have clinical presentations that are quite similar to specific human diseases. Understanding the genetic bases of canine hereditary diseases will not only complement comparative genetics studies but also facilitate selective breeding practices to reduce incidences in the dog. Whole genome screens have great potential to identify the marker(s) that segregate with canine hereditary diseases for which no reasonable candidate genes exist. The Minimal Screening Set-1 (MSS-1) was the first set of microsatellite markers described for linkage analysis in the dog and was, until recently, the best tool for genome screens. The MSS-2 is the most recently described screening set and offers increased density and more polymorphic markers. The first objective of this work was to develop tools to streamline genomic analyses in the study of canine hereditary diseases. This was achieved through the development of 1) multiplexing strategies for the MSS-1, 2) a multiplex of microsatellite markers for use in canine forensics and parentage assays and 3) chromosome-specific multiplex panels for the MSS-2. Multiplexing is the simultaneous amplification and analysis of markers and significantly reduces the expense and time required to collect genotype information. Pancreatic acinar atrophy (PAA) is a disease characterized by the degeneration of acinar cells of the exocrine pancreas and is the most important cause of exocrine pancreatic insufficiency (EPI) in the German Shepherd Dog (GSD). Although the prognosis for dogs having EPI is typically good with treatment, many dogs are euthanized because the owners are unable to afford the expensive enzyme supplements. The second objective of this work was to determine the mode of transmission of EPI in the GSD and conduct a whole genome screen for linkage. Two extended families of GSDs having PAA were assembled and used to determine the pattern of transmission. The results of this indicate that PAA is an autosomal recessive disease. The multiplexed MSS-1 was used to conduct an initial whole genome screen, although no markers were suggestive of linkage.
|
6 |
Transmission genetics of pancreatic acinar atrophy in the German Shepherd Dog and development of microsatellite DNA-based tools for canine forensics and linkage analysisClark, Leigh Anne 30 September 2004 (has links)
The domestic dog, Canis lupus familiaris, has emerged as a model system for the study of human hereditary diseases. Of the approximately 450 hereditary diseases described in the dog, half have clinical presentations that are quite similar to specific human diseases. Understanding the genetic bases of canine hereditary diseases will not only complement comparative genetics studies but also facilitate selective breeding practices to reduce incidences in the dog. Whole genome screens have great potential to identify the marker(s) that segregate with canine hereditary diseases for which no reasonable candidate genes exist. The Minimal Screening Set-1 (MSS-1) was the first set of microsatellite markers described for linkage analysis in the dog and was, until recently, the best tool for genome screens. The MSS-2 is the most recently described screening set and offers increased density and more polymorphic markers. The first objective of this work was to develop tools to streamline genomic analyses in the study of canine hereditary diseases. This was achieved through the development of 1) multiplexing strategies for the MSS-1, 2) a multiplex of microsatellite markers for use in canine forensics and parentage assays and 3) chromosome-specific multiplex panels for the MSS-2. Multiplexing is the simultaneous amplification and analysis of markers and significantly reduces the expense and time required to collect genotype information. Pancreatic acinar atrophy (PAA) is a disease characterized by the degeneration of acinar cells of the exocrine pancreas and is the most important cause of exocrine pancreatic insufficiency (EPI) in the German Shepherd Dog (GSD). Although the prognosis for dogs having EPI is typically good with treatment, many dogs are euthanized because the owners are unable to afford the expensive enzyme supplements. The second objective of this work was to determine the mode of transmission of EPI in the GSD and conduct a whole genome screen for linkage. Two extended families of GSDs having PAA were assembled and used to determine the pattern of transmission. The results of this indicate that PAA is an autosomal recessive disease. The multiplexed MSS-1 was used to conduct an initial whole genome screen, although no markers were suggestive of linkage.
|
Page generated in 0.0586 seconds