Julia V Мukiy, Olga V Kostyunina
Animal Husbandry and Fodder Production. 2024. Vol. 107, no 1. Р. 62-72.
doi:10.33284/2658-3135-107-1-62
Original article
Identification of LOF- mutations in a population of Ayrshire cattle
Julia V Мukiy1, Olga V Kostyunina2
1Sankt-Petersburg State University of Veterinary Medicine, Sankt-Peterbug, Russia
2Federal Research Center for Animal Husbandry named after Academy Member LK Ernst, Dubrovitsy, Russia
1jul.ma2015@yandex.ru, https://orcid.org/0000-0003-3371-298X
2kostolan@yandex.ru, https://orcid.org/0000-0001-8206-322
Abstract. Due to the intensification of dairy cattle breeding, the problem of accumulation of harmful LOF-mutations in cattle appeared, which reduced the quality of production, fertility of animals, as well as led to various anomalies. This study aimed to establish the frequency of mutant alleles accumulation in three genes UBE3B, CHRNB1, FMO3, associated with fertility (PIRM syndrome), multiple arthrogryposis (AM - Arthrogryposis Multiplex), and the appearance of a fishy odor in cow's milk, respectively. Genotyping of 135 heads of Ayrshire cattle was conducted in Leningrad region, which revealed the presence of undesirable haplotypes: AH1 in the UBE3B gene with a frequency of 17.0%, AHC in CHRNB1 with a frequency of 2.2%, in the FMO3 gene with a frequency of the homozygous genotype by mutation 1.5% and heterozygous – 3.0%. Thus, the occurrence of LOF mutations carriers in the population of Ayrshire cows was 23.7%. To eliminate harmful mutations, breeding work is required aimed at further identifying mutation carriers, primarily sires and cows, their culling and correction of the parental pairs selection.
Keywords: dairy cattle, Ayrshire breed; LOF-mutation, fertility haplotype, genes UBE3B, CHRNB1, FMO3
For citation: Мukiy JV, Kostyunina OV. Identification of LOF- mutations in a population of Ayrshire cattle. Animal Husbandry and Fodder Production. 2024;107(1):62-72. (In Russ.). https://doi.org/10.33284/2658-3135-107-1-62
References
- Vasileva EN. Probability of manifestation of fertility haplotype AN1 in tested Ayrshire bulls. Genetics and breeding of animals. 2021;3:5-14. doi: 10.31043/2410-2733-2021-3-5-14
- Gladyr EA, Ternovskaya OA, Kostyunina OV. Screening of the AN1 fertility haplotype of the Ayrshire breed of cattle in the Central and Northwestern regions of Russia. Agricultural and Livestock Technology. 2018;1(4):1. doi: 10.15838/alt.2018.1.4.1
- Shichkin GI et al. Yearbook on breeding work in dairy cattle breeding in farms of the Russian Federation (2022). Moscow: Publishing house of Federal State Budgetary Scientific Institution “All-Russian Research Institute of Animal Breeding”; 2023:255 р.
- Abramova NI et al. The history of the formation of the Ayrshire breed, and its modern state in Russia and in the Vologda oblast. (Conference proceedings) Agrarian science at the present stage: state, problems, prospects: materials of the international scientific and practical conference, (Vologda – Molochnoe, 28 February – 1 March 2018). Vologda: Vologda Scientific Center of the Russian Academy of Sciences; 2018:49-57.
- Konovalova EN, Kostyunina OV. Spread of the arthrogryposis multiplex (AM) and developmental duplication (DD) genetic defects among the russian populations of aberdeen angus cattle. Genetics and Breeding of Animals. 2019;1:16-21.
- Gladyr EA, Konovalova EN, Kostyunina OV, Koshchaeva AG. Molecular diagnostics of fmo genetic defect in Ayrshire cattle breed. Proceedings of the Kuban State Agrarian University. 2019;80:215-221. doi: 10.21515/1999-1703-80-215-221
- Petrova AV. Analysis of breeding and productive qualities of Ayrshire cattle population Leningrad region. Journal of Dairy and Beef Cattle Breeding. 2018;7:22-27. doi: 10.25632/MMS.2018.7.21451
- Gorelik OV, Lavrov AA, Lavrova YuE, Belookov AA. Reasons for the disposal of cows, depending on the origin. Agrarian Bulletin of the Urals. 2021;01(204):36-45. doi: 10.32417/1997-4868-2021-204-01-36-45
- Romanenkova OS, Kostyunina Diagnosis of a mutation in the PNKG1 gene that determines PSE syndrome in pigs. Animal Husbandry and Fodder Production. 2023;106(4):68-79. doi: 10.33284/2658-3135-106-4-68
- Cole JB, Null DJ, VanRaden PM. Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. J Dairy Sci. 2016;99(9):7274-7288. doi: 3168/jds.2015-10777
- Cooper TA, Wiggans GR, Null DJ, Hutchison JL, Cole JB. Genomic evaluation, breed identification, and discovery of a haplotype affecting fertility for Ayrshire dairy cattle. J Dairy Sci. 2014;97(6):3878-3882. doi: 3168/jds.2013-7427
- Häfliger IM, Spengeler M, Seefried FR, et al. Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle. Sci Rep. 2022;12:5435. doi: 10.1038/s41598-022-09403-6
- Hiltpold M, Kadri NK, Janett F, Witschi U, Schmitz-Hsu F, Pausch H. Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population. BMC Genomics. 2021;22(1):225. doi: 1186/s12864-021-07523-3
- Jenko J, McClure MC, Matthews D, et al. Analysis of a large dataset reveals haplotypes carrying putatively recessive lethal and semi-lethal alleles with pleiotropic effects on economically important traits in beef cattle. Genet Sel Evol. 2019;51(1):9. doi:10.1186/s12711-019-0452-z
- Lundén A et High trimethylamine concentration in milk from cows on standard diets is expressed as fishy off-flavour. The Journal of Dairy Research. 2002;69(3):383-390. doi: 10.1017/s002202990200568x
- Makanjuola BO, Maltecca C, Miglior F, et al. Identification of unique ROH regions with unfavorable effects on production and fertility traits in Canadian Holsteins. Genet Sel Evol. 2021;53(1):68. doi: 10.1186/s12711-021-00660-z
- Martikainen K, Koivula M, Uimari P. Identification of runs of homozygosity affecting female fertility and milk production traits in Finnish Ayrshire cattle. Sci Rep. 2020;10(1):3804. doi: 1038/s41598-020-60830-9
- Upperman LR, Kinghorn BP, MacNeil MD, Van Eenennaam AL. Management of lethal recessive alleles in beef cattle through the use of mate selection software. Genet Sel Evol. 2019;51(1):36. doi: 10.1186/s12711-019-0477-3
Information about the authors:
Julia V Мukiy, Cand. Sci. (Biology), Associate Professor of the Department of Animal Feeding and Breeding, St. Petersburg State University of Veterinary Medicine, 5 Chernigovskaya St., St. Petersburg, 196084, tel.: +7(921)4312412.
Olga V Kostyunina, Dr. Sci. (Biology), Leading Researcher, Laboratory of Molecular Genetics of Farm Animals, Laboratory of Molecular Genetics of Farm Animals, Federal Research Center for Animal Husbandry named after Academy Member LK Ernst, 60 Dubrovitsy, Podolsk district, Moscow region, 142132, tel.: + 7(4967)651102.
The article was submitted 25.01.2024; approved after reviewing 12.02.2024; accepted for publication 18.03.2024.
Download