Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data


Abstract views: 179 / PDF downloads: 176

Authors

  • NITESH KUMAR SHARMA ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • PRASHANT SINGH ICAR-National Research Centre on Equines, Sirsa Road, Hisar, Haryana
  • BIBEK SAHA ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • ANURADHA BHARDWAJ ICAR-National Research Centre on Equines, Sirsa Road, Hisar, Haryana
  • MIR ASIF IQUEBAL ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • YASH PAL ICAR-National Research Centre on Equines, Sirsa Road, Hisar, Haryana
  • VARIJ NAYAN ICAR-Central Institute for Research on Buffaloes, Hisar, Haryana
  • SARIKA JAISWAL ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • SHIV KUMAR GIRI Maharaja Agrasen University, Baddi, Himachal Pradesh
  • RAM AVATAR LEGHA ICAR-National Research Centre on Equines, Sirsa Road, Hisar, Haryana
  • T K BHATTACHARYA ICAR-National Research Centre on Equines, Sirsa Road, Hisar, Haryana
  • DINESH KUMAR ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • ANIL RAI ICAR-Indian Agricultural Statistics Research Institute, Pusa, New Delhi 110 012 India
  • BHUPENDRA NATH TRIPATHI ICAR, New Delhi

https://doi.org/10.56093/ijans.v93i8.136161

Keywords:

Bhutia, Copy number variation (CNV), Copy number variation region (CNVR), Equine, Genes

Abstract

Copy number variants (CNVs) have dynamic potential and evolutionary significance like other genetic variants, namely, single nucleotide polymorphisms, InDels, short tandem repeat polymorphisms, inversion variants, etc. Discovering CNVs leads to further speculation that the genomic DNA contains more changes than previously thought and contributes to the phenotypic variation. CNVs are big DNA fragments (> 1 kb) being duplicated or deleted. A bridge between CNVs and phenotypic variations supports CNVs to be utilized in GWAS, which are currently mostly based on SNPs. CNV, which refers to the structural differences, influence gene expression and can be an indicator of numerous traits for improvement. There is a severe dearth of research on CNVs in animals, especially equine. The present study investigates the genomes of the Bhutia Equine breed for genome-wide discovery of CNVs using the
Axiom™ Equine Genotyping Array chip for a better understanding of its traits which had been unexplored till date. A total of 619 CNVs from 20 Bhutia equines were identified with the median and average size as 49.394 kb and 114.955 kb, respectively. Total 225 frequent CNVRs with > 1% CNV frequency were identified among them along with singleton type. These CNVRs contained 361 genes in all. The information obtained on genomic variation could be utilized to identify economically advantageous genetic features in Bhutia equine breed.

Downloads

Download data is not yet available.

References

Alderson L. 1999. Criteria for the recognition and prioritisation of breeds of special genetic importance. Animal Genetic Resources 33: 1–9. DOI: https://doi.org/10.1017/S101423390000537X

Atwell S, Huang Y S, Vilhjálmsson B J, Willems G, Horton M, Li Y and Nordborg M. 2010. Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines. Nature 465(7298): 627–31. DOI: https://doi.org/10.1038/nature08800

Bae J S, Cheong H S, Kim J O, Lee S O, Kim E M, Lee H W, et al. 2008. Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochemical and Biophysical Research Communications 373(4): 593–96. DOI: https://doi.org/10.1016/j.bbrc.2008.06.083

Cunningham F, Amode M R, Barrell D, Beal K, Billis K, Brent S, et al. 2015. Ensembl 2015. Nucleic Acids Research 43(D1): D662–D669. DOI: https://doi.org/10.1093/nar/gku1010

Glessner J T, Wang K, Cai G, Korvatska O, Kim C E, Wood S, et al. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246): 569–73. DOI: https://doi.org/10.1038/nature07953

Gupta A K, Tandon S N,Pal, Y, Bhardwaj A and Chauhan M. 2012. Phenotypic characterization of Indian equine breeds: A comparative study. Animal Genetic Resources 50: 49–58. DOI: https://doi.org/10.1017/S2078633612000094

Handsaker R E Van Doren, V, Berman J R, Genovese G, Kashin S, Boettger L M and McCarroll S A. 2015. Large multiallelic copy number variations in humans. Nature Genetics 47(3): 296–303. DOI: https://doi.org/10.1038/ng.3200

Lee C and Morton C C. 2008. Structural genomic variation and personalized medicine. New England Journal of Medicine 358(7): 740–41. DOI: https://doi.org/10.1056/NEJMcibr0708452

Levy S, Sutton G, Ng P C, Feuk L, Halpern A L, Walenz B P, et al. 2007. The diploid genome sequence of an individual human. PLoS Biology 5(10): e254. DOI: https://doi.org/10.1371/journal.pbio.0050254

McCarroll S A, Kuruvilla F G, Korn J M, Cawley S Nemesh J, Wysoker A, Altshuler D, et al. 2008. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature Genetics 40(10): 1166–74. DOI: https://doi.org/10.1038/ng.238

Perry G H, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran C W, Lee C, et al. 2008. The fine-scale and complex architecture of human copy-number variation. The American Journal of Human Genetics 82(3): 685–95. DOI: https://doi.org/10.1016/j.ajhg.2007.12.010

Redon R, Ishikawa S, Fitch K R, Feuk L, Perry G H, Andrews T D, Hurles M E, et al. 2006. Global variation in copy number in the human genome. Nature 444(7118): 444–54. DOI: https://doi.org/10.1038/nature05329

Rincon G, Weber K L, Van Eenennaam A L, Golden B L, Medrano J F, et al. 2011. Hot topic: Performance of bovine high-density genotyping platforms in Holsteins and Jerseys. Journal of Dairy Science 94(12): 6116–21. DOI: https://doi.org/10.3168/jds.2011-4764

Scherer S W, Lee C, Birney E, Altshuler D M, Eichler E E, Carter N P, Feuk L, et al. 2007. Challenges and standards in integrating surveys of structural variation. Nature Genetics 39(Suppl 7): S7–S15. DOI: https://doi.org/10.1038/ng2093

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant S F, Bucan M, et al. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Research 17(11): 1665–74. DOI: https://doi.org/10.1101/gr.6861907

Wheeler D A, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, Rothberg J M, et al. 2008. The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189): 872–76. DOI: https://doi.org/10.1038/nature06884

Wilson D E and Reeder D M. 2005. Mammal species of the world: A taxonomic and geographic reference (Vol. 1). 3rd edition. Johns Hopkins University Press, Baltimore, Maryland.

Xu L, Hou Y, Bickhart D M, Zhou Y, Hay E H A, Song J, et al. 2016. Population-genetic properties of differentiated copy number variations in cattle. Scientific Reports 6(1): 23161. DOI: https://doi.org/10.1038/srep23161

Zhang F, Gu W, Hurles M E and Lupski J R. 2009. Copy number variation in human health, disease, and evolution. Annual Review of Genomics and Human Genetics 10: 451–81. DOI: https://doi.org/10.1146/annurev.genom.9.081307.164217

Zhou Y, Connor E E, Wiggans G R, Lu Y, Tempelman R J, Schroeder S G, Liu G E, et al. 2018. Genome-wide copy number variant analysis reveals variants associated with 10 diverse production traits in Holstein cattle. BMC Genomics 19: 1–9. DOI: https://doi.org/10.1186/s12864-018-4699-5

Downloads

Submitted

2023-05-09

Published

2023-08-31

Issue

Section

Articles

How to Cite

SHARMA, N. K., SINGH, P., SAHA, B., BHARDWAJ, A., IQUEBAL, M. A., PAL, Y., NAYAN, V., JAISWAL, S., GIRI, S. K., LEGHA, R. A., BHATTACHARYA, T. K., KUMAR, D., RAI, A., & TRIPATHI, B. N. (2023). Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data. The Indian Journal of Animal Sciences, 93(8), 802–805. https://doi.org/10.56093/ijans.v93i8.136161
Citation