John Kariuki Macharia1, Dong Jae Lee1, Seung Hwan Lee1,2, Jun Heon Lee1,2*
1Department of Animal Science and Biotechnology, College of Agriculture and Life Sciences, Chungnam National University, Daejeon 34134, Republic of Korea
2Department of Bio-AI Convergence, Chungnam National University, Daejeon 34134, Republic of Korea.
Correspondence to Jun Heon Lee, E-mail: junheon@cnu.ac.kr
Volume 8, Number 1, Pages 1-6, March 2024.
Journal of Animal Breeding and Genomics 2024, 8(1), 1-6. https://doi.org/10.12972/jabng.20240101
Received on 07 June, 2023, Revised on 07 November, 2023, Accepted on 28 November, 2023, Published on 31 March, 2024.
Copyright © 2024 Korean Society of Animal Breeding and Genetics.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0).
Selective breeding of cattle increases the level of inbreeding and, as a result, the risk of transmitting deleterious recessive alleles in a population. Numerous genetic disorders have been identified in various breeds of cattle. Although these disorders occur sporadically, the widespread use of semen from carrier sires can increase their prevalence in a population. In this regard, routine testing and elimination of carrier bulls is essential. The availability of a large amount of genomic data enables the screening and identification of causal alleles in the absence of phenotypes. This study aimed to investigate the presence of candidate variants of genetic disorders in Hanwoo cattle using whole genome data. 16,970 cattle were genotyped using the 50K Illumina Bovine chip and imputed to the whole genome sequence level using reference data from 203 bulls. Genetic coordinates of previously reported mutations in cattle were obtained from the OMIA online database. The information was then used to screen for harmful alleles in Hanwoo cattle. Fortunately, we did not identify any candidate variants in the tested population. However, this study was limited to a small sample. Moreover, the reliability of the results could have been affected by low imputation accuracy and genotype liftover errors. In this regard, we recommend regular screening of the breeding cattle to minimize the prevalence of genetic disorders in Hanwoo cattle.
genetic disorders, Hanwoo, recessive alleles, whole genome data
The authors have no conflict of interest to declare.
Arora D, Srikanth K, Lim DJ, Park JM, Lee SH, Shin DH and Park WC. 2021. Exploration of OMIA Registered Recessive Mutations in Hanwoo Cattle. Journal of Agriculture & Life Science, 55(2):137-143.
[DOI]
Bolormaa S, Pryce JE, Zhang Y, Reverter A, Barendse W, Hayes BJ and Goddard ME. 2015. Non-additive genetic variation in growth, carcass and fertility traits of beef cattle. Genetics Selection Evolution, 47:1-12. doi:10.1186/s12711-015-0114-8.
[DOI][PubMed][PMC]
Cavanagh JAL, Tammen I, Windsor PA, Nicholas FW and Raadsma HW. 2002, August. Identification of the gene causing chondrodysplasia in Dexter cattle. In Proceedings of the 7th World Congress on Genetics Applied to Livestock Production, August, in Montpellier, France.
Charlier C, Li W, Harland C, Littlejohn M, Coppieters W, Creagh F, Davis S, Druet T, Faux P, Guillaume F and Karim L. 2016. NGS-based reverse genetic screening for common embryonic lethal mutations compromising fertility in livestock. Genome Research, 26(10):1333-1341. http://genome.cshlp.org/
[DOI][PubMed][PMC]
Cho SH, Seo D, Ganbold O, Choi NR, Manjula P, Jin S, Lee SH, YAMAGUCHI N, Gotoh T and Lee JH. 2019. First Identification of the Causal Mutation for Coagulation F11 Deficiency in Hanwoo Cattle. doi:10.5109/2232276.
[DOI]
Ciepłoch A, Rutkowska K, Oprządek J and Poławska E. 2017. Genetic disorders in beef cattle: a review. Genes & Genomics, 39:461-471. doi:10.1007/s13258-017-0525-8
[DOI][PubMed][PMC]
Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, Land SJ, Lu X and Ruden DM. 2012. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff. Fly 6:80-92.
[DOI][PubMed][PMC]
Das S, Forer L, Schönherr S, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, Schlessinger D, Stambolian D., Loh PR, Iacono WG, Swaroop A, Scott LJ, Cucca F, Kronenberg F, Boehnke M, Abecasis GR and Fuchsberger C. 2016. Next-generation genotype imputation service and methods. Nature Genetics, 48:1284-7.
[DOI][PubMed][PMC]
Doublet AC, Croiseau P, Fritz S, Michenet A, Hozé C, Danchin-Burge C, Laloë D. and Restoux G. 2019. The impact of genomic selection on genetic diversity and genetic gain in three French dairy cattle breeds. Genetics Selection Evolution, 51:1-13. doi:10.1186/s12711-019-0495-1
[DOI][PubMed][PMC]
Georges M, Charlier C. and Hayes B. 2019. Harnessing genomic information for livestock improvement. Nature Reviews Genetics, 20:135-156.
[DOI][PubMed]
Gholap PN, Kale DS, and Sirothia AR. 2014. Genetic diseases in cattle: A review. Research Journal of Animal, Veterinary and Fishery Sciences, 2(2):24-33.
Häfliger IM, Letko A, Murgiano L and Drögemüller C. 2020. De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull. Anim Genet, 51: 466-469. doi:10.1111/age.12934
[DOI][PubMed]
Higachev AI.; Ernst LK.; Bogachev AS. 2008. About accumulation of mutation weight in the cattle breeds as a result of intensive reproduction technology and improvement on target determinants. Sel’skokhozyaistvennaya Biol. (Agr. Biol.) 2008, 43, 25-32. Available online: https://www.elibrary.ru/item.asp?id=11709790 (accessed on April 24, 2023)
Hoff JL, Decker JE, Schnabel RD and Taylor JF. 2017. Candidate lethal haplotypes and causal mutations in Angus cattle. BMC genomics, 18:1-11. doi:10.1186/s12864-017-4196-2.
[DOI][PubMed][PMC]
Islam MS, Shinya U, Takagi M, Akahoshi T, Yabuki A, Pervin S, Rakib TM, Rahman, MM, Tacharina MR and Yamato O, 2021. Carrier rate of the c. 235G> C mutation in the bovine isoleucyl-tRNA synthetase (IARS) gene of Japanese Black cows at Kagoshima prefecture, Japan, and analysis of the metabolic profiling and reproductive performance of heterozygous cows. Journal of Veterinary Medical Science, 83(2):254-259. doi:10.1292/jvms.20-0356
[DOI][PubMed][PMC]
Joo ST, Hwang YH. and Frank D, 2017. Characteristics of Hanwoo cattle and health implications of consuming highly marbled Hanwoo beef. Meat Science, 132:45-51. doi:10.1016/j.meatsci.2017.04.262
[DOI][PubMed]
Kim KI, Lee JH, Lee SS. and Yang YH. 2003. Phylogenetic relationships of Northeast Asian cattle to other cattle populations determined using mitochondrial DNA D-Loop sequence polymorphism. Biochemical Genetics, 41:91-98. doi:10.1023/A:1022021900205
[DOI][PubMed]
Kunieda T. 2005. Identification of genes responsible for hereditary diseases in Japanese beef cattle. Animal Science Journal, 76(6):525-533. doi:10.1111/j.1740-0929.2005.00300.x.
[DOI]
Lee SH, Park BH, Sharma A, Dang CG, Lee SS, Choi TJ, Choy YH, Kim HC, Jeon KJ, Kim SD and Yeon SH, 2014. Hanwoo cattle: origin, domestication, breeding strategies and genomic selection. Journal of Animal Science and Technology, 56:1-8. doi:10.1186/2055-0391-56-2.
[DOI][PubMed][PMC]
Lim KS, Park BH, Choi TJ, Lim D and Cho YM., 2016. Carrier testing for autosomal recessive hereditary disorder in Korean proven bulls. Journal of Biomedical and Translational Research, 17(4):85-90.
[DOI]
Mon SLY, Suwa H, Sato W, Iida K, Kudo D, Yamasaka M, Nakayama K, Mannen H, Kawabe K, Okamoto S And Shimogiri T. 2019. Genotyping of The FGD3 Gene in Japanese Black Cattle Bred in Oita Prefecture. Nihon Danchi Chikusan Gakkaihou, 62(2):115-118. doi:10.11461/jwaras.62.115.
Murgiano L, Jagannathan V, Benazzi C, Bolcato M, Brunetti B, Muscatello LV, Dittmer K, Piffer C, Gentile A and Drögemüller C. 2014. Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. PLoS One, 9(4):94861. doi:10.1371/journal.pone.0094861
[DOI][PubMed][PMC]
Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. 1995. Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/.
Purcell S, Neale B, Todd-Brown K., Thomas L, Ferreira MA, Bender D, Maller J, Sklar, P, De Bakker PI, Daly MJ. and Sham PC, 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. The American Journal of Human Genetics, 81(3):559-575. doi:10.1086/519795
[DOI][PubMed][PMC]
Sasaki S, Watanabe T, Ibi T, Hasegawa K, Sakamoto Y, Moriwaki S, Kurogi K, Ogino A, Yasumori T, Wakaguri H and Muraki E. 2021. Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. Scientific Reports, 11(1):6687. doi:10.1038/s41598-021-86225-y
[DOI][PubMed][PMC]
Takasuga A, Sato K, Nakamura R, Saito Y, Sasaki S, Tsuji T, Suzuki A, Kobayashi H, Matsuhashi T, Setoguchi K and Okabe H, 2015. Non-synonymous FGD3 variant as a positional candidate for disproportional tall stature accounting for a carcass weight QTL (CW-3) and skeletal dysplasia in Japanese black cattle. PLoS Genetics, 11: p.e1005433. doi:10.1371/journal.pgen.1005433.
[DOI][PubMed][PMC]
Takeda H, Takami M, Oguni T, Tsuji T, Yoneda K, Sato H, Ihara N, Itoh T, Kata SR, Mishina, Y. and Womack JE. 2002. Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. Proceedings of the National Academy of Sciences, 99(16):10549-10554. doi:10.1073/pnas.152337899
[DOI][PubMed][PMC]
Uffo O and Acosta A. 2009. Molecular diagnosis and control strategies for the relevant genetic diseases of cattle. Biotecnologia Aplicada, 26(3):204-208.
White PJ and Windsor PA. 2012. Congenital chondrodystrophy of unknown origin in beef herds. The Veterinary Journal, 193(2):336-343. doi:10.1016/j.tvjl.2012.04.016
[DOI][PubMed]