Whole genome sequencing analysis of horse populations inhabiting the Korean Peninsula and Przewalski’s horse.
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
The research article primarily focuses on genomic analysis of certain horse populations in South Korea, particularly the Jeju horse, and a wild horse breed known as Przewalski’s horse. The scientists carefully mapped billions of sequences reads and identified various genetic variants in these horses, providing valuable information for potential further studies on gene functionalities and economically important traits in horses.
Genomic Analysis of Horse Populations:
In an effort to understand the genomic characteristics of certain domestic horse populations in South Korea (including Jeju, Jeju crossbreds, and Thoroughbreds) and a wild horse breed (Przewalski’s horse), the researchers used the equine reference genome assembly.
- Over 6.5 billion sequence reads were mapped, generating an average coverage of 40.87-fold throughout the genome. This deep sequencing and mapping of the equine genome offered a comprehensive view of the genetic make-up of these Korean horse populations as well as the Przewalski’s horse.
Identification and Annotation of SNPs:
The study detected a total of nearly 13 million Single Nucleotide Polymorphisms (SNPs) in the genomes analyzed. SNPs represent a variation in a single nucleotide and are the most frequent type of genetic variation in the genome.
- A fraction of 73.7% of the detected SNPs were found to be novel, indicating new genetic variations not previously recorded.
- Annotations were carried out to determine the specific locations of these SNPs. Approximately 27% of the SNPs were located within genes while the rest were found in the non-coding, intergenic regions of the genome.
- By identifying SNPs in particular gene regions, further studies can explore the impact of these genetic variations on gene function, potentially shedding light on various biological processes and diseases.
Detection of Nonsynonymous and Deleterious SNPs:
The research further identified nonsynonymous and deleterious SNPs among the detected variations.
- A total of 49,171 nonsynonymous SNPs in 12,351 genes were found out. These SNPs induce changes in the amino acid sequence of the encoded proteins, potentially affecting protein structure or function.
- Also identified were 10,770 deleterious nonsynonymous SNPs. These variations are predicted to have a significant impact on the protein structure or function.
- The identification of these potentially harmful SNPs can highlight potential genes of interest in future studies of genetic diseases or abnormalities in horses.
Potential Implications:
This study provides a plethora of genomic variations from domestic and wild horse breeds, enhancing the understanding of the genetic diversity present among these populations.
- These results are a valuable resource for further functional studies on SNP-containing genes that can enhance the understanding of biology and disease development in horses.
- This work will also contribute to determining the molecular basis for variation in essential traits in horses, thereby having potential economic implications.
Cite This Article
Publication
Researcher Affiliations
- College of Animal Life Science, Kangwon National University, Chuncheon, 24341, Republic of Korea.
- Subtropical Animal Research Institute, National Institute of Animal Science, RDA, Jeju, 690-150, Republic of Korea.
- Jeju Special Self-Governing Province Livestock Promotion, Jeju, Republic of Korea.
- College of Animal Life Science, Kangwon National University, Chuncheon, 24341, Republic of Korea.
- College of Animal Life Science, Kangwon National University, Chuncheon, 24341, Republic of Korea.
- College of Animal Life Science, Kangwon National University, Chuncheon, 24341, Republic of Korea.
- Institute of Agriculture and Life Science, College of Agriculture and Life Sciences, Gyeongsang National University, Jinju, 52828, Republic of Korea.
- Division of Food Functionality Research, Research Group of Healthcare, Wanju-gun, 55365, Republic of Korea. whchung@kfri.re.kr.
- College of Animal Life Science, Kangwon National University, Chuncheon, 24341, Republic of Korea. jungwoo.kor@gmail.com.
MeSH Terms
- Animals
- Genome
- Horses / genetics
- Polymorphism, Single Nucleotide
- Whole Genome Sequencing
References
- Castro S, Ríos M, Ortiz Y, Manrique C, Jiménez A, Ariza F. Association of single nucleotide polymorphisms in CAPN1, CAST and MB genes with meat color of Brahman and crossbreed cattle.. Meat Sci 2016 Jul;117:44-9.
- Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform.. Bioinformatics 2010 Mar 1;26(5):589-95.
- Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data.. Bioinformatics 2014 Aug 1;30(15):2114-20.
- Huang J, Zhao Y, Shiraigol W, Li B, Bai D, Ye W, Daidiikhuu D, Yang L, Jin B, Zhao Q, Gao Y, Wu J, Bao W, Li A, Zhang Y, Han H, Bai H, Bao Y, Zhao L, Zhai Z, Zhao W, Sun Z, Zhang Y, Meng H, Dugarjaviin M. Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype.. Sci Rep 2014 May 14;4:4958.
- Wade CM, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, Lear TL, Adelson DL, Bailey E, Bellone RR, Blöcker H, Distl O, Edgar RC, Garber M, Leeb T, Mauceli E, MacLeod JN, Penedo MC, Raison JM, Sharpe T, Vogel J, Andersson L, Antczak DF, Biagi T, Binns MM, Chowdhary BP, Coleman SJ, Della Valle G, Fryc S, Guérin G, Hasegawa T, Hill EW, Jurka J, Kiialainen A, Lindgren G, Liu J, Magnani E, Mickelson JR, Murray J, Nergadze SG, Onofrio R, Pedroni S, Piras MF, Raudsepp T, Rocchi M, Røed KH, Ryder OA, Searle S, Skow L, Swinburne JE, Syvänen AC, Tozaki T, Valberg SJ, Vaudin M, White JR, Zody MC, Lander ES, Lindblad-Toh K. Genome sequence, comparative analysis, and population genetics of the domestic horse.. Science 2009 Nov 6;326(5954):865-7.
- DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data.. Nat Genet 2011 May;43(5):491-8.
- Jagannathan V, Gerber V, Rieder S, Tetens J, Thaller G, Drögemüller C, Leeb T. Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses.. Anim Genet 2019 Feb;50(1):74-77.
- Lau AN, Peng L, Goto H, Chemnick L, Ryder OA, Makova KD. Horse domestication and conservation genetics of Przewalski's horse inferred from sex chromosomal and autosomal sequences.. Mol Biol Evol 2009 Jan;26(1):199-208.
- Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The Sequence Alignment/Map format and SAMtools.. Bioinformatics 2009 Aug 15;25(16):2078-9.
- Kim NY, Seong HS, Kim DC, Park NG, Yang BC, Son JK, Shin SM, Woo JH, Shin MC, Yoo JH, Choi JW. Genome-wide analyses of the Jeju, Thoroughbred, and Jeju crossbred horse populations using the high density SNP array.. Genes Genomics 2018 Nov;40(11):1249-1258.
- Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes.. Nature 2012 Nov 1;491(7422):56-65.
- Vilà C, Leonard JA, Gotherstrom A, Marklund S, Sandberg K, Liden K, Wayne RK, Ellegren H. Widespread origins of domestic horse lineages.. Science 2001 Jan 19;291(5503):474-7.
- Allais S, Journaux L, Levéziel H, Payet-Duprat N, Raynaud P, Hocquette JF, Lepetit J, Rousset S, Denoyelle C, Bernard-Capel C, Renand G. Effects of polymorphisms in the calpastatin and μ-calpain genes on meat tenderness in 3 French beef breeds.. J Anim Sci 2011 Jan;89(1):1-11.
- Goto H, Ryder OA, Fisher AR, Schultz B, Kosakovsky Pond SL, Nekrutenko A, Makova KD. A massively parallel sequencing approach uncovers ancient origins and high genetic variability of endangered Przewalski's horses.. Genome Biol Evol 2011;3:1096-106.
- Choi JW, Liao X, Park S, Jeon HJ, Chung WH, Stothard P, Park YS, Lee JK, Lee KT, Kim SH, Oh JD, Kim N, Kim TH, Lee HK, Lee SJ. Massively parallel sequencing of Chikso (Korean brindle cattle) to discover genome-wide SNPs and InDels.. Mol Cells 2013 Sep;36(3):203-11.
- McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.. Genome Res 2010 Sep;20(9):1297-303.
- Binns MM, Boehler DA, Lambert DH. Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in the Thoroughbred horse in the USA.. Anim Genet 2010 Dec;41 Suppl 2:154-8.
- Jun J, Cho YS, Hu H, Kim HM, Jho S, Gadhvi P, Park KM, Lim J, Paek WK, Han K, Manica A, Edwards JS, Bhak J. Whole genome sequence and analysis of the Marwari horse breed and its genetic origin.. BMC Genomics 2014;15 Suppl 9(Suppl 9):S4.
- Hill EW, McGivney BA, Gu J, Whiston R, Machugh DE. A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.. BMC Genomics 2010 Oct 11;11:552.
- Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.. Fly (Austin) 2012 Apr-Jun;6(2):80-92.
- Choi JW, Chung WH, Lee KT, Cho ES, Lee SW, Choi BH, Lee SH, Lim W, Lim D, Lee YG, Hong JK, Kim DW, Jeon HJ, Kim J, Kim N, Kim TH. Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.. DNA Res 2015 Aug;22(4):259-67.
- Der Sarkissian C, Ermini L, Schubert M, Yang MA, Librado P, Fumagalli M, Jónsson H, Bar-Gal GK, Albrechtsen A, Vieira FG, Petersen B, Ginolhac A, Seguin-Orlando A, Magnussen K, Fages A, Gamba C, Lorente-Galdos B, Polani S, Steiner C, Neuditschko M, Jagannathan V, Feh C, Greenblatt CL, Ludwig A, Abramson NI, Zimmermann W, Schafberg R, Tikhonov A, Sicheritz-Ponten T, Willerslev E, Marques-Bonet T, Ryder OA, McCue M, Rieder S, Leeb T, Slatkin M, Orlando L. Evolutionary Genomics and Conservation of the Endangered Przewalski's Horse.. Curr Biol 2015 Oct 5;25(19):2577-83.
- Ng PC, Henikoff S. Predicting deleterious amino acid substitutions.. Genome Res 2001 May;11(5):863-74.
- Gandolfi G, Pomponio L, Ertbjerg P, Karlsson AH, Nanni Costa L, Lametsch R, Russo V, Davoli R. Investigation on CAST, CAPN1 and CAPN3 porcine gene polymorphisms and expression in relation to post-mortem calpain activity in muscle and meat quality.. Meat Sci 2011 Aug;88(4):694-700.
- Daetwyler HD, Capitan A, Pausch H, Stothard P, van Binsbergen R, Brøndum RF, Liao X, Djari A, Rodriguez SC, Grohs C, Esquerré D, Bouchez O, Rossignol MN, Klopp C, Rocha D, Fritz S, Eggen A, Bowman PJ, Coote D, Chamberlain AJ, Anderson C, VanTassell CP, Hulsegge I, Goddard ME, Guldbrandtsen B, Lund MS, Veerkamp RF, Boichard DA, Fries R, Hayes BJ. Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.. Nat Genet 2014 Aug;46(8):858-65.
- Zhang C, Ni P, Ahmad HI, Gemingguli M, Baizilaitibei A, Gulibaheti D, Fang Y, Wang H, Asif AR, Xiao C, Chen J, Ma Y, Liu X, Du X, Zhao S. Detecting the Population Structure and Scanning for Signatures of Selection in Horses (Equus caballus) From Whole-Genome Sequencing Data.. Evol Bioinform Online 2018;14:1176934318775106.
- Cheong HS, Yoon DH, Park BL, Kim LH, Bae JS, Namgoong S, Lee HW, Han CS, Kim JO, Cheong IC, Shin HD. A single nucleotide polymorphism in CAPN1 associated with marbling score in Korean cattle.. BMC Genet 2008 Apr 19;9:33.
- Rooney MF, Hill EW, Kelly VP, Porter RK. The "speed gene" effect of myostatin arises in Thoroughbred horses due to a promoter proximal SINE insertion.. PLoS One 2018;13(10):e0205664.
- Doan R, Cohen ND, Sawyer J, Ghaffari N, Johnson CD, Dindot SV. Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.. BMC Genomics 2012 Feb 17;13:78.
Citations
This article has been cited 1 times.- Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. Anim Genet 2019 Dec;50(6):569-597.