Investigation of the SCID mutant allele in Turkish Arabian horses reared in some private farms of the Eskişehir region in Turkey

There are several known hereditary diseases in Arabian horses. Many studies have been conducted on molecular diagnostic methods of the mutations that cause these hereditary defects in horses. A five-base deletion in the short arm ECA9p12 of the equine chromosome 9, starting with codon 9480, which occurs in the catalytic subunit gene of the DNA-dependent protein kinase DNAPKcs results in severe combined immunodeficiency SCID hereditary disorder. SCID is an autosomal recessive disorder wherein the immune system of the affected foal is very weak. Purebred Turkish Arabian horses reared in the Eskişehir region have contributed greatly to Turkish Arabian horse breeding and racing. The aim of this study was to detect the SCID mutant allele by using DNA sequencing analysis in Turkish Arabian horses, raised in nine different private farms in Eskişehir. It was determined that none of the horses evaluated in this study carried the SCID mutant allele.

Keywords:

DNA sequencing analysis, heritable disorders SCID, Turkish Arabian horses,

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1. AbouEl Ela NA, El-Nesr KA, Ahmed HA, Brooks SA. Molecular Detection of Severe Combined Immunodeficiency Disorder in Arabian Horses in Egypt. Journal of Equine Veterinary Science 2018; 68: 55-58. doi: 10.1016/j.jevs.2018.05.210
2. Online Mendelian Inheritance in Animals (OMIA) (2019). Website https://omia.org/home/. [accessed 30.10.2019].
3. Lund L. Equine severe combined immunodeficiency. SLU, Dept. of Animal Breeding and Genetics, Uppsala, 2007.
4. Perryman LE. Molecular Pathology of Severe Combined Immunodeficiency in Mice, Horses, and Dogs. Veterinary Pathology 2004; 41(2): 95-100. doi: 10.1354/vp.41-2-95
5. Poppie MJ, McGuire TC. Combined immunodeficiency in foals in Arabian breeding: evaluation of mode of inheritance and estimation of prevalence of affected foals and carrier mares and stallions. Journal of the American Veterinary Medical Association 1977; 170 (1): 31-33.
6. Shin EK, Perryman LE, Meek K. A kinase-negative mutation of DNA-PK (CS) in equine SCID results in defective coding and signal joint formation. The Journal of Immunology 1997; 158 (8): 3565-3569
7. Shin EK, Perryman LE, Meek K. Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait. Journal of the American Veterinary Medical Association 1997; 211 (10): 1268-1270.
8. Bernoco D, Bailey E. Frequency of the SCID gene among Arabian horse in USA. Animal Genetics 1998; 29: 41-42. doi: 10.1046/j.1365-2052.1998.00237.x
9. Swinburne J, Lockhart L, Scott M, Binns MM. Estimation of the Prevalence of Severe Combined Immuno deficiency Disease in UK Arab Horses as Determined by a DNA-based test. Veterinary Record 1999; 145: 22-23. doi: 10.1136/vr.145.1.22
10. Teixeira CS, Oliveira DAA, Kuabara MY. Prevalência da imunodeficiência severa combinada em cavalos da raça Árabe em plantéis de Minas Gerais e São Paulo (in Portuguese). Arquivo Brasileiro de Medicina Veterinária e Zootecnia 2001; 53 (3): 380-384. doi: 10.1590/s0102-09352001000300018
11. Piro M, Benjouad A, Tligui NS, Allali KE, Kohen ME et al. Frequency of the severe combined immunodeficiency disease gene among horses in Morocco. Equine Veterinary Journal 2008; 40 (6): 590-591. doi: 10.2746/042516408X333001
12. Tarr CJ, Thompson PN, Guthrie AJ, Harper CK. The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Veterinary Journal 2014; 46: 512-514. doi: 10.1111/evj.12177
13. Kurylenko YF, Kostenko SO, Dubin OV, Zhezher MI. PCRDiagnostication Of Severe Combined Immuno deficiency Disease (SCID) In Horses. The Animal Biology 2013; 15(3): 49-53.
14. Khanshour AM, Juras R, Stelly L, Cothran EG. Molecular investigation and diagnosis of three genetic diseases in Arabian horses from Middle East and North American populations. Journal of Equine Veterinary Science 2013; 33 (5): 364-365. doi: 10.1016/j.jevs.2013.03.102
15. Seyedabadi HR, Banabazi MH, Afraz F, Asadzadeh N, Javanmard A et al. Molecular Investigation on DNA-PKcs Gene and Identification of SCID Carriers among Iranian Arabian HorsesUsing a Test Based on PCR. Journal of Animal & Veterinary Advances 2011; 10 (7): 865-867.
16. Georgescu SE, Condac E, Dinischiotu A, Costache M. Molecular basis and diagnostication of SCID in Arabian Horses. Roumanian Biotechnological Letters 2006; 11(5): 2875-2879.
17. Zavrtanik J, Mesarič M, Majdič G. Genetic Monitoring For Severe Combined Immunodeficiency Carriers In Horses In Slovenia. Slovenian Veterinary Research 2005; 4: 37-41.
18. Terry RR, Cholewinski G, Cothran EG. Absence of the severe combined immunodeficiency disease gene among Arabian horses in Poland. Journal of Applied Genetics 1999; 1 (40): 39-41.
19. Çinar Kul B, Korkmaz Ağaoğlu Ö, Ertuğrul O, Durmaz M. Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey. Ankara Üniversitesi Veteriner Fakültesi Dergisi 2014; 61: 59-63.
20. Eskişehir İl Gıda, Tarım ve Hayvancılık Müdürlüğü Faaliyet Raporu (2015) (in Turkish). Website https://eskisehir. tarimorman.gov.tr/Menu/2/Faaliyet-Raporlari. [accessed 30.10.2019].
21. Miller SA, Dykes DD, Polesky HFRN. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988; 16 (3): 1215.
22. Tarr CJ. The prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. PhD, University of Pretoria, Pretoria, South Africa, 2012.
23. Kumar S, Stecher G, Li M, Knyaz C, Tamura K. MEGA X: Molecular Evolutionary Genetics Analysis across computing platforms. Molecular Biology and Evolution 2018; 35: 1547- 1549.
24. CodonCode Corporation (2019). Website: https:www. codoncode.com, [accessed 30.10.2019].
25. Bugno-Poniewierska M, Stefaniuk-Szmukier M, Kajtoch AP, Fornal A, Piórkowska K et al. Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland. The Veterinary Journal 2019; 248: 71-73. doi: 10.1016/j.tvjl.2019.04.012
26. Arbani RS, Tarang A, Rafeie F, Potki P, Seighalani R et al. Genetic Monitoring for Severe Combined Immunodeficiency Disease (SCID) Carriers in Arabian Horses of Iran. Journal of Agricultural Science & Technology 2015; 17: 615-622.f
27. Emelyanova V, Ivanova E, Khrabrova L, Gavrilicheva I. Severe Combined Immunodeficiency In Horses. Latvian Journal of Agronomy 2008; 10: 258-262.
28. Aleman M, Finno CJ, Weich K, Penedo MCT. Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. Journal of Veterinary Internal Medicine 2018; 32 (1): 465-468. doi: 10.1111/jvim.14873
29. Severe Combined Immunodeficiency (2020). Website https:// www.arabianhorses.org/search/search-result.html?q=scid. [accessed 06.02.2020].
30. Nagahata H. Bovine Leukocyte Adhesion Deficiency (BLAD): A Review. The Journal of Veterinary Medical Science 2004; 66 (12): 1475-1482. doi: 10.1292/jvms.66.1475