<<<  Back

2019, № 80

UDC: 636.2.082.2
GSNTI: 34.23.59

Molecular diagnostics of FMO genetic defect in Ayrshire cattle breed

The paper deals with the analysis of the genetic reason of FMO syndrome appearance in Ayrshire cattle breed; an original test system of the analysis of FMO3 gene polymorphism by PCR-RFLP method is proposed and the spread of “fish off-flavor” defect in the Russian population of Ayrshire cattle is studied. It have been revealed The frequencies of the alleles and genotypes of FMO3 gene in the different local populations of Ayrshire cattle of Russia are revealed. The basis of the developed test system is the detection of the mutation of C → T in the position 3,866,682 on BTA16 (the genome Assembly UMD3.1) in FMO3 gene leading to the amino acid substitution of R238X. The screening of 22 sire bulls and 322 cows has revealed four homozygote carriers (RR genotype) of the genetic defect among the bulls and sixty four heterozygote carriers (RX genotype) among the cows, bred in the North-West and Central regions of Russian Federation, the frequencies of allele X associated with this anomaly were 10.11 and 12.10%, respectively. The revealed high frequencies of the allele associated with the appearance of fish off-flavor of milk, create prerequisites for the recommendation to use the developed test system for the mass screening of breeding cattle of Ayrshire breed in Russia. This approach will allow revealing the animals-carriers of FMO genetic defect in the populations of Ayrshire breed at the genotype level independently of age, gender, physiological status and controlling the spread of this inherited defect in Russian populations of Ayrshire cattle. The aim of the investigation was to develop the test systems for the analysis of the FMO3 gene polymorphism of the cattle and the monitoring of the Russian populations of Ayrshire cattle of the North-West and Central regions of the Russian Federation for the spread of the genetic defect.
Keywords: Genetic defects, cattle, Ayrshire breed, FMO3 gene, FMO genetic defect, milk fish off-flavor
DOI: 10.21515/1999-1703-80-215-221

References:

1. Зиновьева, Н. А. Гаплотипы фертильности голштинского скота [обзор] / Н. А. Зиновьева // Сельскохозяйственная биология. - 2016. - Т. 51. - № 4. - С. 423-435.
2. Ковалюк, Н. В. Новая тест-система для выявления полиморфизма аллелей гена UBE3B крупного рогатого скота айрширской породы / Н. В. Ковалюк, Е. В. Мачульская, В. Ф. Сацук, Ю. Ю. Шахназарова // Сб. науч. трудов Северо-Кавказского НИИ животноводства. - 2017. - № 3 (6). - С. 12-16.
3. Коновалова, Е. Н. Генетические дефекты мясных пород крупного рогатого скота и стратегии их контроля / Е. Н. Коновалова, Е. А. Гладырь, О. В. Костюнина, Н. А. Зиновьева // Ветеринария, зоотехния и биотехнология. - 2017. - № 2. - С. 42-52.
4. Зиновьева, Н. А. Методические рекомендации по использованию метода полимеразной цепной реакции в животноводстве / Н. А. Зиновьева [и др.]. - Дубровицы. - 1998. - 47 с.
5. Романенкова, О. С. Исследование полиморфизмов в генах APAF1, SMC2 и GART, ассоциированных с гаплотипами фертильности HH1, HH3 и HH4 голштинского и голштинизированного крупного рогатого скота:/ О. С. Романенкова // дис.. канд. биол. наук. Дубровицы. - 2016. - 108 c.
6. Сермягин, А. А. Региональная система геномной оценки как базовый элемент национальной программы генетического совершенствования крупного рогатого скота / А. А. Сермягин, А. Н. Ермилов, И. Н. Янчуков, С. Н. Харитонов, К. В. Племяшов, Е. Н. Тюренкова, Н. И. Стрекозов, Н. А. Зиновьева // Молочное и мясное скотоводство. - 2017. - № 7. - С. 3-7.
7. Тулинова, О. В. Биологические параметры хозяйственно полезных признаков первотелок региональных популяций РФ молочного скота айрширской породы / О. В. Тулинова, С. В. Анистенок // Генетика и разведение животных. - 2019. - № 1. - С. 55-61.
8. Фураева, Н. С. Повышение эффективности разведения молочных пород скота в Ярославской области / Н. С. Фураева // Дис.. д-ра с-х. наук. Ярославль. - 2016. - 397 c.
9. Чекменева, Н. Ю. Повышение генетического потенциала продуктивности молочного скота айрширской породы / Н. Ю. Чекменева // Дис.. докт. с-х. наук. Санкт-Петербург - Пушкин. - 2007. - 274 c.
10. Lundeґn, A. A Nonsense Mutation in the FMO3 Gene Underlies Fishy Off-Flavor in Cow’s Milk / A. Lundeґn, S. Marklund, V. Gustafsson, L. Andersson // Genome Research. - 2002б. - V. - P. 1885-1888.
11. A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria / S. M. Forrest, M. Knight, B. R. Akerman, J. R. Cashman, E. P. Treacy // Pharmacogenetics. - 2001. - V. 11. - P. 169-174.
12. Ampuero, S. Determination of trimethylamine in milk using an MS based electronic nose / S. Ampuero, T. Zesiger, A. Lundén, V. Gustafsson, J. O. Bosset // European Food Research and Technology. - 2002. - V. 214. - P. 163-167.
13. Dolphi, C. T. Differential developmental and tissue-specific regulation of expression of the genes encoding three members of the flavin-containing monooxygenase family of man, FMO1, FMO3 and FM04 / C. T. Dolphin, T. E. Cullingford, E. A. Shephard, R. L. Smith, I. R. Phillips // Eur J Biochem. - 2006. - V. 235. - P. 683-689.
14. Gustavsson, V. Genetic aspects on milk quality / V. Gustavsson // Licentiatavhandling. Sveriges Lantbruksuniversitet, Institutionen för husdjursgenetik. - 2001. - Rapport 139.
15. Lundén, A. Genetic markers of milk quality in cows. In: Indicators of Milk and Beef Quality / A. Lundén // EAAP publication - 2005. - № 112. Wageningen Academic Publishers. Edited by J. F. Hocquette and S. Gigli. - P. 33-46.
16. Taylor, J. F. Genomics of Bull Fertility / J. F. Taylor, R. D. Schnabel, P. Sutovsky // Animal. - 2018. - V. 12(Suppl 1). - P. 172-183.
17. Lundén, A. High trimethylamine concentration in milk from cows on standard diets is expressed as fishy of flavour / A. Lundén, V. Gustafsson, M. Imhof, R. Gauch, J-O. Bosset // Journal of Dairy Research. - 2002a. - V. 69. - P. 383-390.
18. Koukouritaki, S. B. Human hepatic flavincontaining monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression / S. B. Koukouritaki, P. Simpson, C. K. Yeung, A. E. Rettie, R. N. Hines // Pediatr Research. - 2002. - V. 51. - P. 236-243.
19. Krueger, S. K. Mammalian flavin-containing monooxygenases: structure function, genetic polymorphisms and role in drug metabolism / S. K. Krueger and D. E. Williams // Pharmacology & Therapeutics. - 2005. - V. 106. - P. 357-387.
20. Dolphin, C. T. Missense mutation in flavin-containing monooxygenase 3 gene, FMO3, underlies fish-odour syndrome / C. T. Dolphin, A. Janmohamed, R. L. Smith, E. A. Shepard, I. R. Phillips // Nat. Genet. - 1997. - V. 17. - P. 491-494.
21. Treacy, E. P. Mutations of the flavin-containing mono-oxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. / E. P. Treacy, B. R. Akerman, L. M. L. Chow, R. Youil, C. Bibeau, J. Lin, A. G. Bruce, M. Knight, D. M. Danks, J. R. Cashman, et al. // Hum. Mol. Genet. - 1998. - V. 7. - P. 839-845.
22. Online Mendelian Inheritance in Man /https://www.omim.org/entry/602079.
23. OMIA - Online mendelian inheritance in animals / https://omia.org/OMIA001360/9913/.
24. Sermyagin, A. A. Overview of fertility traits in Russian holstein bulls using genome-wide association / A. A. Sermyagin, E. N. Naryshkina, E. A. Gladyr, G. G. Brem, N. A. Zinoveva // Reproduction, Fertility and Development. - 2017. - Т. 29. - № 1. - Р. 174.
25. Janmohamed, A. Quantification and cellular localization of expression in human skin of genes encoding flavin-containing monooxygenases and cytochromes P450 / A. Janmohamed, C. T. Dolphin, I. R. Phillips, E. A. Shephard // Biochem Pharmacol. - 2001. - V. 62. - P.777-786.
26. Cashman, J. R. Role of flavin-containing monooxygenase in drug development / J. R. Cashman // Expert Opin Drug Metab Toxicol. - 2008. -V. 4. - P. 1507-1521.
27. Basarab, T. Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome / T. Basarab, G. H. Ashton, H. P. Menagé, J. A. McGrath // Brit. J. Dermatol. - 1999. - V. 140. - Р. 164-167.
28. Al-Waiz, M. The metabolism of 14C labelled trimethylamine and its N-oxide in man / M. Al-Waiz, S. C. Mitchell, J. R. Idle, R. L. Smith // Xenobiotica. - 1987. - V. 17. - P. 551-558.
29. Johnson, P. E. The undesirable flavor in milk resulting from grazing cows on wheat pasture / P. E. Johnson, L. J. Bush, G. V. Odell, E. L. Smith // Oklahoma Agricultural Experimental Station. - 1973. - MP-90. - Р. 274-277.
30. Akerman, B. R. Two novel mutations of the FMO3 gene in a proband with rimethylaminuria. / B. R. Akerman, S. Forrest, L. Chow, R. Youil, M. Knight, E. P. Treacy // Hum. Mut. - 1999. - V. 13. - P. 376-379.
31. Рrimer 3. Available at: http://bioinfo.ut.ee/primer3-0.4.0/ Дата обращения: 04.04.2019 г.

Authors:

1. Gladyr Elena Alexandrovna, Phd in Biology, Leading Researcher; Laboratory of Molecular Fundamentals of Selection, L.K. Ernst Federal Science Center for Animal Husbandry.
2. Konovalova Elena Nikolaevna, Phd in Biology, Senior Researcher; Laboratory of Molecular Fundamentals of Selection, L.K. Ernst Federal Science Center for Animal Husbandry.
3. Kostyunina Olga Vasilevna, DSc in Biology, Leading Researcher, Head of the Laboratory; Laboratory of Molecular Fundamentals of Selection, L.K. Ernst Federal Science Center for Animal Husbandry.
4. Koshchaev Andrey Georgievich, DSc in Biology, Professor, Department of Biotechnology, Biochemistry and Biophysics, Federal State Budgetary Educational Institution of Higher Education “I.T. Trubilin Kuban State Agrarian University”.