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doi: 10.1016/j.cveq.2013.09.Analysis of CTCs identifies HRD positive cells through single cell imaging techniques.Įpic Sciences unveiled a liquid biopsy test that more sensitively detects cancers susceptible to PARP inhibitors by targeting homologous recombination deficiency (HRD) in individual circulating tumor cells (CTCs). Veterinary Clinics of North America: Equine Practice, 29(3), 689-702. Heritable Equine Regional Dermal Asthenia. Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. Ishikawa, Y., Vranka, J.A., Boudko, S.P., Pokidysheva, E., Mizuno, K., Zientek, K.D., Keene, D.R., Rashmir-Raven, A.M., Nagata, K., Winand, N.J., & Baechinger, H.P. Journal of the American Veterinary Medical Association, 234(1), 120-125. Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. Tryon, R.C., Penedo, M.C., McCue, M.E., Valberg, S.J., Mickelson, J.R., Famula, T.R., Wagner, M., Jackson, M.A., Hamilton, M.J., Nooteboom, S., & Bannasch, D.L. Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Hereditary equine regional dermal asthenia (‘hyperelastosis cutis’) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. White, S.D., Affolter, V.K., Bannasch, D.L., Schultheiss, P.C., Hamar, D.W., Chapman, P.L., Naydan, D., Spier, S.J., Rosychuk, R.A.W., Rees, C., Veneklasen, G.O., Martin, A., Bevier, D., Jackson, H.A., Bettenay, S., Matousek, J., Campbell, K.L., & Ihrke, P.J. Breedings between normal and carrier horses will not produce a HERDA foal, although 50% of the foals from this type of cross are expected to be carriers. Breedings of carrier horses have a 25% chance of producing an affected foal. For horse breeders, identification of carriers is critical for the selection of mating pairs.
#HRD TESTING SKIN#
Other skin conditions can mimic the symptoms of HERDA this DNA test will assist veterinarians to make the correct diagnosis. This diagnostic DNA test for HERDA allows identification of horses that are affected or that carry the specific mutation. Functional studies have shown that the HERDA mutation delays proper collagen folding and secretion and is presumed to alter collagen organization thus leading to the clinical manifestations.
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Collagen is is an important structural protein of all connective tissues including skin. PPIB is one of the proteins involved in proper collagen formation. This missense mutation codes for a change in the gene product, specifically the normal glycine at position 39 is changed to an arginine (denoted as p.G39R) altering the Peptidylprolyl Isomerase B (PRIB) protein. HERDA is caused by a single base change in the gene PPIB (c.115G>A). Danika Bannasch's laboratory at the University of California, Davis, identified the mutation causing HERDA. HERDA has an autosomal recessive mode of inheritance and affects stallions and mares in equal proportions. There is no cure, and the majority of diagnosed horses are euthanized because they are unable to be ridden and are inappropriate for future breeding.
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The condition typically occurs by the age of two, most notably when the horse is first being broke to saddle. Affected foals rarely show symptoms at birth. HERDA is characterized by hyperextensible skin, scarring, and severe lesions along the back of affected horses. Within the breed, the disease is prevalent in particular lines of cutting horses. Hereditary equine regional dermal asthenia (HERDA) is a genetic skin disease predominantly found in the American Quarter Horse.