Jacquelyn Wahl - Academia.edu (original) (raw)
Papers by Jacquelyn Wahl
Canine SINEs and Their Effects on Phenotypes of the Domestic Dog
Springer eBooks, Feb 11, 2008
Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacque... more Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacquelyn M. Wahl, Christine A. Rees, George M. Strain, Edward J. Cargill, Sharon L. Vanderlip, and Keith E. Murphy Abstract Short ...
Yellowstone Bison Genetics: Let Us Move Forward
Journal of Heredity, Aug 21, 2012
Mammalian Genome, Dec 1, 2005
Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the mos... more Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the most common cause of exocrine pancreatic insufficiency in the German Shepherd Dog. Analyses of inheritance have shown that a single gene segregating in an autosomal recessive fashion is causative for PAA. To date the gene and causative mutation have not been determined. To identify a region of interest and/or candidate genes, we conducted linkage and gene expression studies. Analysis of 384 microsatellite markers resulted in a maximum two-point LOD score of 2.5 for FH2107 on CFA03. We used an oligonucleotide array to generate gene expression profiles for normal and affected pancreata. It revealed 244 genes with greater than twofold difference in expression levels. Five genes of interest were further assessed by TaqMan quantitative real-time RT-PCR that confirmed trends observed using the microarray. One gene, gp25L, located on CFA03, was found to be downregulated by more than 500-fold in affected pancreata and was further investigated as a candidate gene. Sequence data did not reveal a mutation in the coding sequence that segregates with PAA. Pancreatic acinar atrophy (PAA), the most common cause of exocrine pancreatic insufficiency (EPI), is a
Journal of Veterinary Internal Medicine, Mar 1, 2009
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele. Objective: To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene. Animals: One hundred and fifty-three privately owned merle dogs of different breeds and both sexes. Methods: Hearing was tested by brainstem auditory-evoked response and classified as bilaterally hearing, unilaterally deaf, or bilaterally deaf. DNA from buccal cells was genotyped as either heterozygous or homozygous for the merle allele. Deafness association tests among merle genotype, eye color, and sex were performed by the w 2 test. Results: Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex. Conclusions: Deafness prevalence in merle dogs was greater than that in some dog breeds homozygous for the piebald gene, such as the English Cocker Spaniel, but comparable to, or lower than, that in the Dalmatian and white Bull Terrier. Dogs homozygous for the merle allele were significantly more likely to be deaf than heterozygotes.
Journal of Veterinary Behavior, Nov 1, 2008
The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies... more The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies across the world. Unfortunately, the breed is afflicted with approximately 50 hereditary diseases. Seven major diseases afflicting the GSD are described herein: pancreatic acinar atrophy, megaesophagus, hip dysplasia, degenerative myelopathy, hemophilia A, von Willebrand disease, and hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis. Also included is a discussion of behavior, a characteristic thought to be inherited in the dog and often problematic in larger breeds such as the GSD. Current clinical and genetic research efforts pertaining to these diseases are reviewed.
Journal of Heredity, Feb 8, 2012
The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually per... more The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually persisted on their current landscape since pre-Columbian times. Over the last century, the census size of this herd has fluctuated from around 100 individuals to over 3000 animals. Previous studies involving radiotelemetry, tooth wear, and parturition timing provide evidence of at least 2 distinct groups of bison within Yellowstone National Park. To better understand the biology of Yellowstone bison, we investigated the potential for limited gene flow across this population using multilocus Bayesian clustering analysis. Two genetically distinct and clearly defined subpopulations were identified based on both genotypic diversity and allelic distributions. Genetic cluster assignments were highly correlated with sampling locations for a subgroup of live capture individuals. Furthermore, a comparison of the cluster assignments to the 2 principle winter cull sites revealed critical differences in migration patterns across years. The 2 Yellowstone subpopulations display levels of differentiation that are only slightly less than that between populations which have been geographically and reproductively isolated for over 40 years. The identification of cryptic population subdivision and genetic differentiation of this magnitude highlights the importance of this biological phenomenon in the management of wildlife species.
Proceedings of the National Academy of Sciences of the United States of America, Jan 9, 2006
Since its domestication, the dog has served in many roles, from protector, guide, hunter, and bes... more 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.
A process for the identification of the gene merle
A method for identification of individuals with mutations in SILV gene comprising: (A) obtaining ... more A method for identification of individuals with mutations in SILV gene comprising: (A) obtaining a biological sample from a dog or human; and (B) analyzing the biological sample for mutations within the SILV gene or human equivalent.
Canine SINEs and Their Effects on Phenotypes of the Domestic Dog
Stadler Genetics Symposia Series
Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacque... more Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacquelyn M. Wahl, Christine A. Rees, George M. Strain, Edward J. Cargill, Sharon L. Vanderlip, and Keith E. Murphy Abstract Short ...
Analysis of gene transcript profiling and immunobiology in Shetland sheepdogs with dermatomyositis
Veterinary Dermatology, 2008
Dermatomyositis (DM) is a canine and human inflammatory disease of the skin and muscle that is th... more Dermatomyositis (DM) is a canine and human inflammatory disease of the skin and muscle that is thought to be autoimmune in nature. In dogs, DM occurs most often in the rough collie and Shetland sheepdog. Characteristic skin lesions typically develop on the face, ears, tail, and distal extremities. The severity of lesions varies and is thought to increase with stressful stimuli. Previous studies in the collie suggest that DM is inherited in an autosomal dominant fashion with incomplete penetrance. The work presented here concerns gene transcripts profiling and immunobiology of DM in the Shetland sheepdog. Gene transcript profiles were generated for affected and normal skin using a canine-specific oligonucleotide array having 49,929 probe sets. 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 which showed that staining patterns with sera from normal and affected dogs are quite similar. 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.
Proceedings of the National Academy of Sciences, 2006
Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by p... more Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. This trait is inherited in an autosomal, incompletely dominant fashion. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities, which are similar to those observed for the human auditory–pigmentation disorder Waardenburg syndrome. Mutations in at least five genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all cases have not been determined. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. The marker is located in a region of CFA10 that exhibits conservation of synteny with HSA12q13. 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 ...
Mammalian Genome, 2005
Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the mos... more Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the most common cause of exocrine pancreatic insufficiency in the German Shepherd Dog. Analyses of inheritance have shown that a single gene segregating in an autosomal recessive fashion is causative for PAA. To date the gene and causative mutation have not been determined. To identify a region of interest and/or candidate genes, we conducted linkage and gene expression studies. Analysis of 384 microsatellite markers resulted in a maximum two-point LOD score of 2.5 for FH2107 on CFA03. We used an oligonucleotide array to generate gene expression profiles for normal and affected pancreata. It revealed 244 genes with greater than twofold difference in expression levels. Five genes of interest were further assessed by TaqMan quantitative real-time RT-PCR that confirmed trends observed using the microarray. One gene, gp25L, located on CFA03, was found to be downregulated by more than 500-fold in affected pancreata and was further investigated as a candidate gene. Sequence data did not reveal a mutation in the coding sequence that segregates with PAA. Pancreatic acinar atrophy (PAA), the most common cause of exocrine pancreatic insufficiency (EPI), is a
Journal of Veterinary Internal Medicine, 2009
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele. Objective: To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene. Animals: One hundred and fifty-three privately owned merle dogs of different breeds and both sexes. Methods: Hearing was tested by brainstem auditory-evoked response and classified as bilaterally hearing, unilaterally deaf, or bilaterally deaf. DNA from buccal cells was genotyped as either heterozygous or homozygous for the merle allele. Deafness association tests among merle genotype, eye color, and sex were performed by the w 2 test. Results: Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex. Conclusions: Deafness prevalence in merle dogs was greater than that in some dog breeds homozygous for the piebald gene, such as the English Cocker Spaniel, but comparable to, or lower than, that in the Dalmatian and white Bull Terrier. Dogs homozygous for the merle allele were significantly more likely to be deaf than heterozygotes.
Journal of Veterinary Behavior: Clinical Applications and Research, 2008
The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies... more The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies across the world. Unfortunately, the breed is afflicted with approximately 50 hereditary diseases. Seven major diseases afflicting the GSD are described herein: pancreatic acinar atrophy, megaesophagus, hip dysplasia, degenerative myelopathy, hemophilia A, von Willebrand disease, and hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis. Also included is a discussion of behavior, a characteristic thought to be inherited in the dog and often problematic in larger breeds such as the GSD. Current clinical and genetic research efforts pertaining to these diseases are reviewed.
Yellowstone Bison Genetics: Let Us Move Forward
Journal of Heredity, 2012
White and Wallen (2012) disagree with the conclusions and suggestions made in our recent assessme... more White and Wallen (2012) disagree with the conclusions and suggestions made in our recent assessment of population structure among Yellowstone National Park (YNP) bison based on 46 autosomal microsatellite loci in 661 animals (Halbert et al. 2012). First, they suggest that “the existing genetic substructure (that we observed) was artificially created.” Specifically, they suggest that the substructure observed between the northern and central populations is the result of human activities, both historical and recent. In fact, the genetic composition of all known existing bison herds was created by, or has been influenced by, anthropogenic activities, although this obviously does not reduce the value of these herds for genetic conservation (Dratch and Gogan 2010). As perspective, many, if not most, species of conservation concern have been influenced by human actions and as a result currently exist as isolated populations. However, it is quite difficult to distinguish between genetic differences caused by human actions and important ancestral variation contained in separate populations without data from early time periods. Therefore, to not lose genetic variation that may be significant or indicative of important genetic variation, the generally acceptable management approach is to attempt to retain this variation based on the observed population genetic subdivision (Hedrick et al. 1986). Potential support for the opinion of White and Wallen (2012) about the large contribution of human actions to the observed genetic differentiation in YNP bison could come from genetic evaluation of bison samples from just before the relocation efforts of 1935–1936 (Cahalane 1944) or from the end of the period of intensive livestock-like management in the 1950s (Meagher 1973). However, if the observed differences were created by human-influenced events before the 1950s, then one would predict that in the last half century since then, natural exchange between the subpopulations would have greatly reduced or eliminated this genetic signal of differentiation. Regardless of the level of human influence on the observed levels of population differentiation, we must collectively move forward as good stewards of this natural resource with the best available scientific information. As such, it is paramount that we consider the long-term effects of current human interventions (bison “management”) on patterns of genetic diversity. Second, White and Wallen (2012) state that the low level of gene flow (based on FST) we reported is no longer present because of recent higher population numbers. They suggest that radiocollared bison movement data from 2002 to 2011 and a genetics study (nuclear microsatellites) of fecal samples from 99 different animals for 17 of our loci from 2006 and 2008 support a recent higher rate of gene flow between the two subpopulations. However, the details of the movement study and the genetic study are unpublished . We encourage White and Wallen to submit these for peer-review publication so the research can be more fully evaluated and used to inform additional research. Estimates of population structure based on maternally inherited mitochondrial DNA from Gardipee (2007) showed very high differentiation between groups. Further, we examined sex-biased gene flow using her data and found gene flow values that were consistent with estimates from our nuclear data. The unpublished radiocollared bison movement data White and Wallen (2012) report found no movement between the groups for female bison until the years 2006 to 2007. In other words, the lower FST that they report for 2006 surprisingly measures lower differentiation before this documentation of movement between groups. To evaluate the potential effect of recent higher gene flow, let us assume that FST declined from 0.032 (our estimated value) to 0.017 (the average of their two values) in one generation from around 2000 to 2007. Using expression (1) in Halbert et al. (2012), then the rate of gene flow would have had to be 27.1% each way between the two groups. This seems unrealistically high. Furthermore, the substantial evidence of cryptic population structure reported by Halbert et al. (2012) should give pause to observational studies linking YNP bison to particular breeding ranges or subpopulations. That is, while radiocollared bison movement data are immensely useful in understanding patterns of movement (e.g., Olexa and Gogan 2007), empirical genetic data are needed to establish the subpopulation origin of individuals: movement of Journal of Heredity doi:10.1093/jhered/ess051
Journal of Heredity, 2012
The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually per... more The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually persisted on their current landscape since pre-Columbian times. Over the last century, the census size of this herd has fluctuated from around 100 individuals to over 3000 animals. Previous studies involving radiotelemetry, tooth wear, and parturition timing provide evidence of at least 2 distinct groups of bison within Yellowstone National Park. To better understand the biology of Yellowstone bison, we investigated the potential for limited gene flow across this population using multilocus Bayesian clustering analysis. Two genetically distinct and clearly defined subpopulations were identified based on both genotypic diversity and allelic distributions. Genetic cluster assignments were highly correlated with sampling locations for a subgroup of live capture individuals. Furthermore, a comparison of the cluster assignments to the 2 principle winter cull sites revealed critical differences in migration patterns across years. The 2 Yellowstone subpopulations display levels of differentiation that are only slightly less than that between populations which have been geographically and reproductively isolated for over 40 years. The identification of cryptic population subdivision and genetic differentiation of this magnitude highlights the importance of this biological phenomenon in the management of wildlife species.
Abstract: Since its domestication, the dog has served in many roles, from protector, guide, hunte... more Abstract: 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 ...
Methods for identification of merle gene
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele.
Canine SINEs and Their Effects on Phenotypes of the Domestic Dog
Springer eBooks, Feb 11, 2008
Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacque... more Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacquelyn M. Wahl, Christine A. Rees, George M. Strain, Edward J. Cargill, Sharon L. Vanderlip, and Keith E. Murphy Abstract Short ...
Yellowstone Bison Genetics: Let Us Move Forward
Journal of Heredity, Aug 21, 2012
Mammalian Genome, Dec 1, 2005
Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the mos... more Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the most common cause of exocrine pancreatic insufficiency in the German Shepherd Dog. Analyses of inheritance have shown that a single gene segregating in an autosomal recessive fashion is causative for PAA. To date the gene and causative mutation have not been determined. To identify a region of interest and/or candidate genes, we conducted linkage and gene expression studies. Analysis of 384 microsatellite markers resulted in a maximum two-point LOD score of 2.5 for FH2107 on CFA03. We used an oligonucleotide array to generate gene expression profiles for normal and affected pancreata. It revealed 244 genes with greater than twofold difference in expression levels. Five genes of interest were further assessed by TaqMan quantitative real-time RT-PCR that confirmed trends observed using the microarray. One gene, gp25L, located on CFA03, was found to be downregulated by more than 500-fold in affected pancreata and was further investigated as a candidate gene. Sequence data did not reveal a mutation in the coding sequence that segregates with PAA. Pancreatic acinar atrophy (PAA), the most common cause of exocrine pancreatic insufficiency (EPI), is a
Journal of Veterinary Internal Medicine, Mar 1, 2009
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele. Objective: To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene. Animals: One hundred and fifty-three privately owned merle dogs of different breeds and both sexes. Methods: Hearing was tested by brainstem auditory-evoked response and classified as bilaterally hearing, unilaterally deaf, or bilaterally deaf. DNA from buccal cells was genotyped as either heterozygous or homozygous for the merle allele. Deafness association tests among merle genotype, eye color, and sex were performed by the w 2 test. Results: Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex. Conclusions: Deafness prevalence in merle dogs was greater than that in some dog breeds homozygous for the piebald gene, such as the English Cocker Spaniel, but comparable to, or lower than, that in the Dalmatian and white Bull Terrier. Dogs homozygous for the merle allele were significantly more likely to be deaf than heterozygotes.
Journal of Veterinary Behavior, Nov 1, 2008
The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies... more The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies across the world. Unfortunately, the breed is afflicted with approximately 50 hereditary diseases. Seven major diseases afflicting the GSD are described herein: pancreatic acinar atrophy, megaesophagus, hip dysplasia, degenerative myelopathy, hemophilia A, von Willebrand disease, and hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis. Also included is a discussion of behavior, a characteristic thought to be inherited in the dog and often problematic in larger breeds such as the GSD. Current clinical and genetic research efforts pertaining to these diseases are reviewed.
Journal of Heredity, Feb 8, 2012
The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually per... more The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually persisted on their current landscape since pre-Columbian times. Over the last century, the census size of this herd has fluctuated from around 100 individuals to over 3000 animals. Previous studies involving radiotelemetry, tooth wear, and parturition timing provide evidence of at least 2 distinct groups of bison within Yellowstone National Park. To better understand the biology of Yellowstone bison, we investigated the potential for limited gene flow across this population using multilocus Bayesian clustering analysis. Two genetically distinct and clearly defined subpopulations were identified based on both genotypic diversity and allelic distributions. Genetic cluster assignments were highly correlated with sampling locations for a subgroup of live capture individuals. Furthermore, a comparison of the cluster assignments to the 2 principle winter cull sites revealed critical differences in migration patterns across years. The 2 Yellowstone subpopulations display levels of differentiation that are only slightly less than that between populations which have been geographically and reproductively isolated for over 40 years. The identification of cryptic population subdivision and genetic differentiation of this magnitude highlights the importance of this biological phenomenon in the management of wildlife species.
Proceedings of the National Academy of Sciences of the United States of America, Jan 9, 2006
Since its domestication, the dog has served in many roles, from protector, guide, hunter, and bes... more 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.
A process for the identification of the gene merle
A method for identification of individuals with mutations in SILV gene comprising: (A) obtaining ... more A method for identification of individuals with mutations in SILV gene comprising: (A) obtaining a biological sample from a dog or human; and (B) analyzing the biological sample for mutations within the SILV gene or human equivalent.
Canine SINEs and Their Effects on Phenotypes of the Domestic Dog
Stadler Genetics Symposia Series
Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacque... more Page 1. Canine SINEs and Their Effects on Phenotypes of the Domestic Dog Leigh Anne Clark, Jacquelyn M. Wahl, Christine A. Rees, George M. Strain, Edward J. Cargill, Sharon L. Vanderlip, and Keith E. Murphy Abstract Short ...
Analysis of gene transcript profiling and immunobiology in Shetland sheepdogs with dermatomyositis
Veterinary Dermatology, 2008
Dermatomyositis (DM) is a canine and human inflammatory disease of the skin and muscle that is th... more Dermatomyositis (DM) is a canine and human inflammatory disease of the skin and muscle that is thought to be autoimmune in nature. In dogs, DM occurs most often in the rough collie and Shetland sheepdog. Characteristic skin lesions typically develop on the face, ears, tail, and distal extremities. The severity of lesions varies and is thought to increase with stressful stimuli. Previous studies in the collie suggest that DM is inherited in an autosomal dominant fashion with incomplete penetrance. The work presented here concerns gene transcripts profiling and immunobiology of DM in the Shetland sheepdog. Gene transcript profiles were generated for affected and normal skin using a canine-specific oligonucleotide array having 49,929 probe sets. 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 which showed that staining patterns with sera from normal and affected dogs are quite similar. 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.
Proceedings of the National Academy of Sciences, 2006
Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by p... more Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. This trait is inherited in an autosomal, incompletely dominant fashion. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities, which are similar to those observed for the human auditory–pigmentation disorder Waardenburg syndrome. Mutations in at least five genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all cases have not been determined. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. The marker is located in a region of CFA10 that exhibits conservation of synteny with HSA12q13. 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 ...
Mammalian Genome, 2005
Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the mos... more Pancreatic acinar atrophy (PAA) is a degenerative disease of the exocrine pancreas and is the most common cause of exocrine pancreatic insufficiency in the German Shepherd Dog. Analyses of inheritance have shown that a single gene segregating in an autosomal recessive fashion is causative for PAA. To date the gene and causative mutation have not been determined. To identify a region of interest and/or candidate genes, we conducted linkage and gene expression studies. Analysis of 384 microsatellite markers resulted in a maximum two-point LOD score of 2.5 for FH2107 on CFA03. We used an oligonucleotide array to generate gene expression profiles for normal and affected pancreata. It revealed 244 genes with greater than twofold difference in expression levels. Five genes of interest were further assessed by TaqMan quantitative real-time RT-PCR that confirmed trends observed using the microarray. One gene, gp25L, located on CFA03, was found to be downregulated by more than 500-fold in affected pancreata and was further investigated as a candidate gene. Sequence data did not reveal a mutation in the coding sequence that segregates with PAA. Pancreatic acinar atrophy (PAA), the most common cause of exocrine pancreatic insufficiency (EPI), is a
Journal of Veterinary Internal Medicine, 2009
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele. Objective: To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene. Animals: One hundred and fifty-three privately owned merle dogs of different breeds and both sexes. Methods: Hearing was tested by brainstem auditory-evoked response and classified as bilaterally hearing, unilaterally deaf, or bilaterally deaf. DNA from buccal cells was genotyped as either heterozygous or homozygous for the merle allele. Deafness association tests among merle genotype, eye color, and sex were performed by the w 2 test. Results: Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex. Conclusions: Deafness prevalence in merle dogs was greater than that in some dog breeds homozygous for the piebald gene, such as the English Cocker Spaniel, but comparable to, or lower than, that in the Dalmatian and white Bull Terrier. Dogs homozygous for the merle allele were significantly more likely to be deaf than heterozygotes.
Journal of Veterinary Behavior: Clinical Applications and Research, 2008
The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies... more The German shepherd dog (GSD) is a preferred choice of many law enforcement and military agencies across the world. Unfortunately, the breed is afflicted with approximately 50 hereditary diseases. Seven major diseases afflicting the GSD are described herein: pancreatic acinar atrophy, megaesophagus, hip dysplasia, degenerative myelopathy, hemophilia A, von Willebrand disease, and hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis. Also included is a discussion of behavior, a characteristic thought to be inherited in the dog and often problematic in larger breeds such as the GSD. Current clinical and genetic research efforts pertaining to these diseases are reviewed.
Yellowstone Bison Genetics: Let Us Move Forward
Journal of Heredity, 2012
White and Wallen (2012) disagree with the conclusions and suggestions made in our recent assessme... more White and Wallen (2012) disagree with the conclusions and suggestions made in our recent assessment of population structure among Yellowstone National Park (YNP) bison based on 46 autosomal microsatellite loci in 661 animals (Halbert et al. 2012). First, they suggest that “the existing genetic substructure (that we observed) was artificially created.” Specifically, they suggest that the substructure observed between the northern and central populations is the result of human activities, both historical and recent. In fact, the genetic composition of all known existing bison herds was created by, or has been influenced by, anthropogenic activities, although this obviously does not reduce the value of these herds for genetic conservation (Dratch and Gogan 2010). As perspective, many, if not most, species of conservation concern have been influenced by human actions and as a result currently exist as isolated populations. However, it is quite difficult to distinguish between genetic differences caused by human actions and important ancestral variation contained in separate populations without data from early time periods. Therefore, to not lose genetic variation that may be significant or indicative of important genetic variation, the generally acceptable management approach is to attempt to retain this variation based on the observed population genetic subdivision (Hedrick et al. 1986). Potential support for the opinion of White and Wallen (2012) about the large contribution of human actions to the observed genetic differentiation in YNP bison could come from genetic evaluation of bison samples from just before the relocation efforts of 1935–1936 (Cahalane 1944) or from the end of the period of intensive livestock-like management in the 1950s (Meagher 1973). However, if the observed differences were created by human-influenced events before the 1950s, then one would predict that in the last half century since then, natural exchange between the subpopulations would have greatly reduced or eliminated this genetic signal of differentiation. Regardless of the level of human influence on the observed levels of population differentiation, we must collectively move forward as good stewards of this natural resource with the best available scientific information. As such, it is paramount that we consider the long-term effects of current human interventions (bison “management”) on patterns of genetic diversity. Second, White and Wallen (2012) state that the low level of gene flow (based on FST) we reported is no longer present because of recent higher population numbers. They suggest that radiocollared bison movement data from 2002 to 2011 and a genetics study (nuclear microsatellites) of fecal samples from 99 different animals for 17 of our loci from 2006 and 2008 support a recent higher rate of gene flow between the two subpopulations. However, the details of the movement study and the genetic study are unpublished . We encourage White and Wallen to submit these for peer-review publication so the research can be more fully evaluated and used to inform additional research. Estimates of population structure based on maternally inherited mitochondrial DNA from Gardipee (2007) showed very high differentiation between groups. Further, we examined sex-biased gene flow using her data and found gene flow values that were consistent with estimates from our nuclear data. The unpublished radiocollared bison movement data White and Wallen (2012) report found no movement between the groups for female bison until the years 2006 to 2007. In other words, the lower FST that they report for 2006 surprisingly measures lower differentiation before this documentation of movement between groups. To evaluate the potential effect of recent higher gene flow, let us assume that FST declined from 0.032 (our estimated value) to 0.017 (the average of their two values) in one generation from around 2000 to 2007. Using expression (1) in Halbert et al. (2012), then the rate of gene flow would have had to be 27.1% each way between the two groups. This seems unrealistically high. Furthermore, the substantial evidence of cryptic population structure reported by Halbert et al. (2012) should give pause to observational studies linking YNP bison to particular breeding ranges or subpopulations. That is, while radiocollared bison movement data are immensely useful in understanding patterns of movement (e.g., Olexa and Gogan 2007), empirical genetic data are needed to establish the subpopulation origin of individuals: movement of Journal of Heredity doi:10.1093/jhered/ess051
Journal of Heredity, 2012
The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually per... more The Yellowstone National Park bison herd is 1 of only 2 populations known to have continually persisted on their current landscape since pre-Columbian times. Over the last century, the census size of this herd has fluctuated from around 100 individuals to over 3000 animals. Previous studies involving radiotelemetry, tooth wear, and parturition timing provide evidence of at least 2 distinct groups of bison within Yellowstone National Park. To better understand the biology of Yellowstone bison, we investigated the potential for limited gene flow across this population using multilocus Bayesian clustering analysis. Two genetically distinct and clearly defined subpopulations were identified based on both genotypic diversity and allelic distributions. Genetic cluster assignments were highly correlated with sampling locations for a subgroup of live capture individuals. Furthermore, a comparison of the cluster assignments to the 2 principle winter cull sites revealed critical differences in migration patterns across years. The 2 Yellowstone subpopulations display levels of differentiation that are only slightly less than that between populations which have been geographically and reproductively isolated for over 40 years. The identification of cryptic population subdivision and genetic differentiation of this magnitude highlights the importance of this biological phenomenon in the management of wildlife species.
Abstract: Since its domestication, the dog has served in many roles, from protector, guide, hunte... more Abstract: 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 ...
Methods for identification of merle gene
Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. L... more Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele.