K.E. Murphy's research while affiliated with Clemson University and other places

Publications (19)

Article
Autosomal recessive hereditary nephropathy (ARHN) was diagnosed in 2 English Springer Spaniels (ESS), a breed not previously reported to be affected by hereditary nephropathy (HN). To identify and characterize the genetic cause of ARHN in ESS. Sixty-three ESS (2 with ARHN, 2 obligate carriers, and 59 others), 2 mixed-breed dogs with X-linked HN, an...
Article
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. To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene. One hundred and fifty-three pr...
Article
Alport syndrome (AS) and hereditary nephropathy (HN) are glomerular nephropathies caused by mutations in the genes encoding the type IV collagens. In a mixed breed of dog, termed Navasota (NAV) dogs, X-linked hereditary nephropathy (XLHN) is caused by a 10-bp deletion in exon 9 of COL4A5. Males harboring this mutation succumb to end-stage renal dis...
Article
Full-text available
Recent advances in mapping the canine genome have led to an increase in the number of linkage studies aimed at dissecting the genetic causes of many hereditary diseases that affect the domestic dog. The first step in developing molecular tools for a whole genome scan was the characterization of a set of microsatellite markers, termed minimal screen...
Article
Full-text available
Hereditary loss of hearing affects many breeds of the domestic dog, but the Dalmatian has the highest prevalence. Approximately 30% are affected in the United States (U.S.) population. It is widely accepted that a relationship exists between deafness and pigmentation in the dog and also in other animals. While the Dalmatian exemplifies this relatio...
Article
The proto-oncogene, C-KIT (KIT), encodes a tyrosine kinase receptor, and mutations in this gene are causative for several mammalian diseases, including cancer and a form of pigmentation-associated hereditary deafness. Our laboratories are interested in a form of hereditary deafness that is associated with abnormalities in pigmentation and is common...
Article
Full-text available
There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Thus, study of canine genetics an...
Article
In order to better define the cornification process in dogs and to understand how it is similar or different from cornification in other mammals, we are sequencing the major molecules of cornification in the dog. In this report, we describe the complete genomic sequence of three superficial type 2 canine keratins: K1, K2e and K2p. Oligonucleotide p...
Article
The transglutaminase 1 gene (TGM1) encodes an enzyme necessary for cross-linking the structural proteins that form the cornified envelope, an essential component of the outermost layer of the skin, the stratum corneum. Reported here is the complete coding region of canine TGM1, its chromosome localization, and its map position in the integrated can...

Citations

... Different types of canine inherited renal diseases have been described in the Bull Terrier [7], Cocker Spaniel [8][9][10][11][12], Samoyed [13,14], Shih Tzu [15], Soft Coated Wheaten Terrier [16,17], Navasota [18], English Springer Spaniel [19] and Bernese Mountain Dog [20,21]. Canine inherited renal diseases mostly affecting the glomeruli have been reported in the Doberman Pinscher [22,23], Newfoundland [24] and Bullmastiff [25]. ...
... A similarly high degree of heritability was found in an experimental pedigree of Manchester Terriers 143 . Further genetic studies have been described in both dogs and humans, with intriguing differences and similarities [144][145][146][147][148] , discussion of which is beyond the scope of this Review. ...
... This applies especially to distinctive coloration, which can be straightforward to observe and maintain in a captive stock. Examples include coat color variants for Merle dogs, where homozygotes for a retrotransposon insertion in the SILV gene have an increased risk of deafness and blindness (Strain et al. 2009;Langevin et al. 2018), and in overo horses, where foals homozygous for a mutated Endothelin Receptor B (EDNRB) develop Lethal White Syndrome (Metallinos et al. 1998). "Lemon frost" geckos have been selected for their unique color, but exhibit an increased risk of iridophoroma, the formation of tumors from iridophores (analogous to melanoma) (Guo et al. 2021). ...
... By using this method, we further confirm the splicing error caused by this variant. As COL4A5 gene locates on X-chromosome, only one type of the splicing product was detected by RT-PCR analysis in this study, which might be due to random X inactivation [21,22]. This might also be the reason why female X-linked AS patients have much complicated clinical presentations. ...
... Because canine microsatellite markers near canine TGM1 are available, as is the coding sequence, molecular biology studies could potentially rule out defects in TGM1 as a cause of the disease in Golden Retrievers. 13 Ultrastructural analysis may reveal specific structural abnormalities diagnostic of some heritable ichthyoses and blistering genodermatoses. For example, ichthyosis vulgaris is characterized by few intact or complete absence of keratohyalin granules in the granular layer, which is correlated with loss of profilaggrin or filaggrin. ...
... The association of deafness and pigmentation can be explained through the role of melanocytes in normal cochlear function. In this form of deafness, there is atrophy of the stria vascularis of the cochlea associated with an absence of melanocytes in the stria of affected dogs (Cargill et al. 2004;Rak & Distl 2005). ...
... To take advantage of top performing STRPs, we assembled a large collection of markers that were screened for informativeness, robustness, and clear allele-calling from data generated on roughly 1500 dogs. In comparison to previously published marker sets (11)(12)(13)(14)(15), the STRPs reported here offer unique benefits, including (i) standardized design conducive to high-throughput genotyping; (ii) multiplexing with tiered panels for efficient and flexible analyses; and (iii) direct support from genetic map information to enable multipoint analysis and coverage assessment. We demonstrate the use of these STRPs in several genetic applications, with emphasis on preliminary experiments for optimizing large-scale SNP genotyping studies. ...
... In 2003 another study reported that both isoforms (GNSK+, GNSK-) encode different cKIT proteins. They found that the human and murine mutations (GNNK), which are similar to the one identified in the canine C2-cell line (GNSK), are co-expressed in most tissues although the consequence of each isoform remains uncertain (Tsai et al. 2003). This may be one possible explanation as to why BGNSK^could be identified in lymph node tissue (Dog 1b) in this study but not in tumour cells from a blood sample (Dog 1a). ...
... Por más que el perro en la actualidad es un animal de compañía, existen razas que cumplen diversas actividades, como por ejemplo: Guía de personas invidentes (Labrador Retriever); guarda y defensa (Ovejero Alemán, Dobermann); detector de drogas y explosivos (Ovejero Alemán, Ovejero Belga); trabajo con ganado menor (Border Collie, Kelpie australiano); trabajo con ganado mayor (Collie, Cimarrón); caza (Galgos, Dogos); compañía (Caniche, razas chicas en general); etc. Existen a nivel mundial, más de 400 razas caninas que son capaces de adaptarse al rol que les toca cumplir, sin poder determinar su número exacto dado que aparecen razas nuevas continuamente (Gagliardi, 2014;Hall, 2008;Greer et al. 2003, Wayne y Vilà 2001. ...
... Se estableció que el alelo * 1101J de DLA-DRB1 era homocigota en los Pastores Alemanes afectados por MD y heterocigota en los sanos. Sin embargo, en otro estudio (Clark et al. 2008), el análisis de la secuencia completa de 3 Pastores Alemanes homocigotas fracasó en reproducir los resultados genotípicos publicados previamente. Los autores concluyeron que el alelo mutante * 1101J no debería ser usado para predecir MD. ...