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Asian-Australasian journal of animal sciences2014; 27(9); 1345-1354; doi: 10.5713/ajas.2013.13857

Copy number deletion has little impact on gene expression levels in racehorses.

Abstract: Copy number variations (CNVs), important genetic factors for study of human diseases, may have as large of an effect on phenotype as do single nucleotide polymorphisms. Indeed, it is widely accepted that CNVs are associated with differential disease susceptibility. However, the relationships between CNVs and gene expression have not been characterized in the horse. In this study, we investigated the effects of copy number deletion in the blood and muscle transcriptomes of Thoroughbred racing horses. We identified a total of 1,246 CNVs of deletion polymorphisms using DNA re-sequencing data from 18 Thoroughbred racing horses. To discover the tendencies between CNV status and gene expression levels, we extracted CNVs of four Thoroughbred racing horses of which RNA sequencing was available. We found that 252 pairs of CNVs and genes were associated in the four horse samples. We did not observe a clear and consistent relationship between the deletion status of CNVs and gene expression levels before and after exercise in blood and muscle. However, we found some pairs of CNVs and associated genes that indicated relationships with gene expression levels: a positive relationship with genes responsible for membrane structure or cytoskeleton and a negative relationship with genes involved in disease. This study will lead to conceptual advances in understanding the relationship between CNVs and global gene expression in the horse.
Publication Date: 2014-09-03 PubMed ID: 25178379PubMed Central: PMC4150202DOI: 10.5713/ajas.2013.13857Google Scholar: Lookup
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  • Journal Article

Summary

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The research article investigates the relationship between copy number variations (CNVs) and gene expression in racehorses, revealing that deletion in CNVs doesn’t have a consistent impact on gene expression levels.

Background of the Study

  • The article studies copy number variations (CNVs) which are important genetic factors in the study of human diseases. These variations can have a significant impact on the phenotype, similarly to single nucleotide polymorphisms.
  • It is accepted that CNVs are associated with differential disease susceptibility, but their relationships with gene expression were not characterized in horses before this study.

Aim and Methodology

  • The researchers aimed to investigate the effects of copy number deletion on the blood and muscle transcriptomes of Thoroughbred racing horses.
  • The investigation identified a total of 1,246 CNVs deletion polymorphisms using DNA re-sequencing data taken from 18 Thoroughbred racehorses.
  • To find the relationship between CNV status and gene expression levels, the study extracted CNVs from four Thoroughbred racehorses for which RNA sequencing was available.

Key Findings

  • The research found that 252 pairs of CNVs and genes were associated in the four horse samples studied.
  • However, there wasn’t a clear and consistent relationship observed between the deletion status of CNVs and gene expression levels before and after exercise in the horses’ blood and muscle.
  • Despite this, some pairs of CNVs and associated genes indicated relationships with gene expression levels: a positive association with genes responsible for membrane structure or cytoskeleton and a negative association with genes linked to disease.

Conclusion and Significance

  • The researchers concluded that while CNV deletion doesn’t consistently impact gene expression, certain associations can be found in specific gene pairs.
  • The study helps to advance understanding of the relationship between CNVs and global gene expression in horses, leading to potential advancements in equine health research.

Cite This Article

APA
Park KD, Kim H, Hwang JY, Lee CK, Do KT, Kim HS, Yang YM, Kwon YJ, Kim J, Kim HJ, Song KD, Oh JD, Kim H, Cho BW, Cho S, Lee HK. (2014). Copy number deletion has little impact on gene expression levels in racehorses. Asian-Australas J Anim Sci, 27(9), 1345-1354. https://doi.org/10.5713/ajas.2013.13857

Publication

ISSN: 1011-2367
NlmUniqueID: 9884245
Country: Korea (South)
Language: English
Volume: 27
Issue: 9
Pages: 1345-1354

Researcher Affiliations

Park, Kyung-Do
  • Genomic Informatics Center, Hankyong National University, Anseong 456-749, Korea.
Kim, Hyeongmin
  • Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute of Agriculture and Life Science, Seoul National University, Seoul 151-921, Korea .
Hwang, Jae Yeon
  • Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute of Agriculture and Life Science, Seoul National University, Seoul 151-921, Korea .
Lee, Chang-Kyu
  • Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute of Agriculture and Life Science, Seoul National University, Seoul 151-921, Korea .
Do, Kyoung-Tag
  • Genomic Informatics Center, Hankyong National University, Anseong 456-749, Korea.
Kim, Heui-Soo
  • Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Korea .
Yang, Young-Mok
  • Department of Pathology, School of Medicine, and Institute of Biomedical Science and Technology, Konkuk University, Seoul 143-701, Korea .
Kwon, Young-Jun
  • Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul 151-742, Korea .
Kim, Jaemin
  • Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul 151-742, Korea .
Kim, Hyeon Jeong
  • CHO & KIM genomics, Seoul 151-919, Korea .
Song, Ki-Duk
  • Genomic Informatics Center, Hankyong National University, Anseong 456-749, Korea.
Oh, Jae-Don
  • Genomic Informatics Center, Hankyong National University, Anseong 456-749, Korea.
Kim, Heebal
  • Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute of Agriculture and Life Science, Seoul National University, Seoul 151-921, Korea . ; CHO & KIM genomics, Seoul 151-919, Korea .
Cho, Byung-Wook
  • Department of Animal Science, College of Life Sciences, Pusan National University, Miryang 627-702, Korea .
Cho, Seoae
  • CHO & KIM genomics, Seoul 151-919, Korea .
Lee, Hak-Kyo
  • Genomic Informatics Center, Hankyong National University, Anseong 456-749, Korea.

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Citations

This article has been cited 5 times.
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