Research Article
Year 2022,
Volume: 69 Issue: 1, 43 - 49, 01.01.2022
Abstract
This study was carried out to detect the presence of mutant alleles of polysaccharide storage myopathy (PSSM) and severe combined immunodeficiency (SCID) disorders in pacing horses raised in different regions of Turkey. Blood/hair samples from 264 (182 Indigenous, 31 Iranian, 24 Afghan, and 27 Bulgarian) pacing horses aged 4 and over were used. As a result of the study, a mutation-heterozygosis (GA) in the GYS1 gene related to PSSM disease was detected in one of the pacing horses (Bulgarian horse). No deletions were observed in the DNA-PKcs gene region in the pacing horses for SCID disease. This study has been carried out to identify the status of two inherited disorders in pacing horses in Turkey. It was determined that there are no mutant genes in indigenous pacing horses, in terms of PSSM and SCID disorders, which are the major hereditary disorders in horses.
Supporting Institution
TÜBİTAK
Project Number
110 O 824
Thanks
This research article’s some samples in the projects no 110 0 824 supported by TUBITAK were also used as materials.
References
- Anonymous (2010): QIAamp® DNA Mini and Blood Mini Handbook. Third Edition, QIAGEN, Sample & Assay Technologies.
- Bailey E, Reid RC, Skow LC, et al (1997): Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4, synteny and FISH mapping to ECA9. Anim Genet, 28, 268-273.
- Baird JD, Valberg SJ, Anderson SM, et al (2010): Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds. Vet Rec, 167, 781-784.
- Bernoco D, Bailey E (1998): Frequency of the SCID gene among Arabian horses in the USA. Anim Genet, 29, 41-42.
- Bilgen N, Kul BÇ, Ertuğrul O, et al (2017): Molecular screening of LFS and PSSM-I diseases in Arabian horse population in Turkey. Kafkas Univ Vet Fak Derg, 23, 339-342.
- Brosnahan MM, Brooks SA, Antczak DF (2010): Equine clinical genomics: A clinician’s primer. Equine Vet J, 42, 658-670.
- De La Corte FD, Valberg SJ, MacLeay J M, et al (2002): Developmental onset of polysaccharide storage myopathy in 4 Quarter horse foals. J Vet Intern Med, 16, 581-587.
- Ding Q, Bramble L, Yuzbasiyan-Gurkan V, et al (2002): DNA-PKCS mutations in dogs and horses: Allele frequency and association with neoplasia. Gene, 283, 263-269.
- Finno CJ, Spier SJ, Valberg SJ (2009): Equine diseases caused by known genetic mutations. Vet J, 179, 336-347.
- Graves KT (2005): Genetic disease in the horse. Equine Disease Quart, 25, 255.
- Herszberg B, McCue ME, Larcher T, et al (2008): A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. Anim Genet, 40, 94-96.
- Jones WE (1997): Severe Combined Immunodeficiency now a solution. J Equine Vet Sci, 17, 630-632.
- Kul BÇ, Ağaoğlu ÖK, Ertuğrul O, et al (2014): Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey. Ankara Univ Vet Fak Derg, 61, 59-63.
- Leber R, Wiler R, Perryman L E, et al (1998): Equine SCID: mechanistic analysis and comparison with murine SCID. Vet Immunol Immunopathol, 65, 1-9.
- McCue ME, Ribeiro WP, Valberg SJ (2006): Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders. Equine Vet J, 36, 340-344.
- McCue ME, Valberg SJ, Lucio M, et al (2008): Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy. J Vet Intern Med, 22, 1228-1233.
- McCue ME, Valberg SJ, Miller MB, et al (2008): Glycogen synthase 1 (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics, 91, 458-466.
- McCue ME, Anderson SM, Valberg SJ, et al (2010): Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Anim Genet, 2, 145-149.
- McGowan CM, McGowan TW, Patterson-Kane JC (2009): Prevalence of equine polysaccharide storage myopathy and other myopathies in two equine populations in the United Kingdom. Vet J, 180, 330-336.
- McGuire TC, Poppie MJ (1973): Hypogammaglobulinemia and thymic hypoplasia in horses: A primary Combined Immunodeficiency Disorder. Infect Immun, 8, 272-277.
- Özbeyaz C (2015): Horse Breeding Course Notes. Ankara University, Faculty of Veterinary Medicine, Department of Animal Husbandry, Ankara.
- Perryman LE (2004): Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol, 41, 95-100.
- Piro M, Benjouad A, Karom A, et al (2011): Genetic structure of severe combined immunodeficiency carrier horses in Morocco inferred by microsatellite data. J Equine Vet Sci, 31, 618-624.
- Poppie MJ, McGuire TC (1977): Combined immunodeficiency in foals in Arabian Breeding: evaluation of mode of inheritance and estimation of prevalence of effected foals and carrier mares and stallions. J Am Vet, 170, 31-33.
- Schwarz B, Ertl R, Zimmer S, et al (2011): Estimated prevalence of the GYS-1 mutation in healthy Austrian Haflingers. Vet Rec, 169, 583.
- Seyedabadi HR, Banabazi MH, Afraz F, et al (2011): Molecular investigation on DNA-PKcs gene and identification of SCID carriers among Iranian Arabian horses using a test based on PCR. J Anim Vet Adv, 10, 865-867.
- Valberg SJ, Cardinet GH III, Carlson GP, et al (1992): Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscular Disord, 2, 351-359.
- Valberg SJ, McCue ME, Lucio M, et al (2009): Breeds of horses positive for the GYS1 mutation associated with polysaccharide storage myopathy. Proceedings of the 21st Eq. Sci. Soc. Symp. J Equine Vet Sci, 29, 312-313.
- Valentine BA, McDonough SP, Chang Y-F, et al (2000): Polysaccharide storage myopathy in Morgan, Arabian and Standard-bred related horses and Welsh-cross ponies. Vet Pathol, 37, 193-196.
- Valentine BA, Habecker PL, Patterson JS, et al (2001): Incidence of Polysaccharide Storage Myopathy in draft horse-related breeds: A necropsy study of 37 horses and a mule. J Vet Diagn Invest, 13, 63-68.
- Valentine BA (2003): Equine polysaccharide storage myopathy. Equine Vet Educ, 15, 254-262.
- Wiler R, Leber R, Moore BB, et al (1995): Equine severe combined immunodeficiency: A defect in V (D) J recombination and DNA-dependent protein kinase activity. Proceedings of the National Academy of Sciences, 92, 11485-11489.
Year 2022,
Volume: 69 Issue: 1, 43 - 49, 01.01.2022
Abstract
Project Number
110 O 824
References
- Anonymous (2010): QIAamp® DNA Mini and Blood Mini Handbook. Third Edition, QIAGEN, Sample & Assay Technologies.
- Bailey E, Reid RC, Skow LC, et al (1997): Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4, synteny and FISH mapping to ECA9. Anim Genet, 28, 268-273.
- Baird JD, Valberg SJ, Anderson SM, et al (2010): Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds. Vet Rec, 167, 781-784.
- Bernoco D, Bailey E (1998): Frequency of the SCID gene among Arabian horses in the USA. Anim Genet, 29, 41-42.
- Bilgen N, Kul BÇ, Ertuğrul O, et al (2017): Molecular screening of LFS and PSSM-I diseases in Arabian horse population in Turkey. Kafkas Univ Vet Fak Derg, 23, 339-342.
- Brosnahan MM, Brooks SA, Antczak DF (2010): Equine clinical genomics: A clinician’s primer. Equine Vet J, 42, 658-670.
- De La Corte FD, Valberg SJ, MacLeay J M, et al (2002): Developmental onset of polysaccharide storage myopathy in 4 Quarter horse foals. J Vet Intern Med, 16, 581-587.
- Ding Q, Bramble L, Yuzbasiyan-Gurkan V, et al (2002): DNA-PKCS mutations in dogs and horses: Allele frequency and association with neoplasia. Gene, 283, 263-269.
- Finno CJ, Spier SJ, Valberg SJ (2009): Equine diseases caused by known genetic mutations. Vet J, 179, 336-347.
- Graves KT (2005): Genetic disease in the horse. Equine Disease Quart, 25, 255.
- Herszberg B, McCue ME, Larcher T, et al (2008): A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. Anim Genet, 40, 94-96.
- Jones WE (1997): Severe Combined Immunodeficiency now a solution. J Equine Vet Sci, 17, 630-632.
- Kul BÇ, Ağaoğlu ÖK, Ertuğrul O, et al (2014): Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey. Ankara Univ Vet Fak Derg, 61, 59-63.
- Leber R, Wiler R, Perryman L E, et al (1998): Equine SCID: mechanistic analysis and comparison with murine SCID. Vet Immunol Immunopathol, 65, 1-9.
- McCue ME, Ribeiro WP, Valberg SJ (2006): Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders. Equine Vet J, 36, 340-344.
- McCue ME, Valberg SJ, Lucio M, et al (2008): Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy. J Vet Intern Med, 22, 1228-1233.
- McCue ME, Valberg SJ, Miller MB, et al (2008): Glycogen synthase 1 (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics, 91, 458-466.
- McCue ME, Anderson SM, Valberg SJ, et al (2010): Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Anim Genet, 2, 145-149.
- McGowan CM, McGowan TW, Patterson-Kane JC (2009): Prevalence of equine polysaccharide storage myopathy and other myopathies in two equine populations in the United Kingdom. Vet J, 180, 330-336.
- McGuire TC, Poppie MJ (1973): Hypogammaglobulinemia and thymic hypoplasia in horses: A primary Combined Immunodeficiency Disorder. Infect Immun, 8, 272-277.
- Özbeyaz C (2015): Horse Breeding Course Notes. Ankara University, Faculty of Veterinary Medicine, Department of Animal Husbandry, Ankara.
- Perryman LE (2004): Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol, 41, 95-100.
- Piro M, Benjouad A, Karom A, et al (2011): Genetic structure of severe combined immunodeficiency carrier horses in Morocco inferred by microsatellite data. J Equine Vet Sci, 31, 618-624.
- Poppie MJ, McGuire TC (1977): Combined immunodeficiency in foals in Arabian Breeding: evaluation of mode of inheritance and estimation of prevalence of effected foals and carrier mares and stallions. J Am Vet, 170, 31-33.
- Schwarz B, Ertl R, Zimmer S, et al (2011): Estimated prevalence of the GYS-1 mutation in healthy Austrian Haflingers. Vet Rec, 169, 583.
- Seyedabadi HR, Banabazi MH, Afraz F, et al (2011): Molecular investigation on DNA-PKcs gene and identification of SCID carriers among Iranian Arabian horses using a test based on PCR. J Anim Vet Adv, 10, 865-867.
- Valberg SJ, Cardinet GH III, Carlson GP, et al (1992): Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscular Disord, 2, 351-359.
- Valberg SJ, McCue ME, Lucio M, et al (2009): Breeds of horses positive for the GYS1 mutation associated with polysaccharide storage myopathy. Proceedings of the 21st Eq. Sci. Soc. Symp. J Equine Vet Sci, 29, 312-313.
- Valentine BA, McDonough SP, Chang Y-F, et al (2000): Polysaccharide storage myopathy in Morgan, Arabian and Standard-bred related horses and Welsh-cross ponies. Vet Pathol, 37, 193-196.
- Valentine BA, Habecker PL, Patterson JS, et al (2001): Incidence of Polysaccharide Storage Myopathy in draft horse-related breeds: A necropsy study of 37 horses and a mule. J Vet Diagn Invest, 13, 63-68.
- Valentine BA (2003): Equine polysaccharide storage myopathy. Equine Vet Educ, 15, 254-262.
- Wiler R, Leber R, Moore BB, et al (1995): Equine severe combined immunodeficiency: A defect in V (D) J recombination and DNA-dependent protein kinase activity. Proceedings of the National Academy of Sciences, 92, 11485-11489.
There are 32 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Veterinary Surgery |
| Journal Section | Research Article |
| Authors | |
| Project Number | 110 O 824 |
| Publication Date | January 1, 2022 |
| Published in Issue | Year 2022Volume: 69 Issue: 1 |
