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Animals : an open access journal from MDPI2020; 10(1); doi: 10.3390/ani10010102

Transcriptomic Analysis of Testicular Gene Expression in Normal and Cryptorchid Horses.

Abstract: Testes produce sperm, and investigations into gene expression in the testes will enhance the understanding of the roles of testicular genes in male reproduction. Cryptorchidism, the failure of one or both testes to descend into the scrotal sac, is a common congenital malformation in horses. The major clinical consequence of this abnormality is impaired fertility. The aim of this study was to analyze the expression patterns of testicular genes and to identify the differentially expressed genes (DEGs) in testes between cryptorchid and normal horses. In this study, the gene expression patterns in equine testes and the DEGs between mature descended testes (DTs) and undescended testes (UDTs) were identified by RNA-seq and validated by real-time qPCR. Our results provide comprehensive transcriptomic data on equine testes. The transcriptomic analysis revealed 11 affected genes that were downregulated in UDTs, possibly as a result of the higher temperature in the abdomen than in the scrotal sac. These 11 genes have previously been associated with male reproduction, and their downregulation might explain the impaired fertility of cryptorchid horses. Two homozygous missense mutations detected in horses with cryptorchidism were absent in normal horses and were listed as potential pathogenic mutations; these mutations should be verified in the future.
Publication Date: 2020-01-08 PubMed ID: 31936283PubMed Central: PMC7022935DOI: 10.3390/ani10010102Google Scholar: Lookup
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  • Journal Article

Summary

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This research looked into gene expression in the testes of horses and identified differences between healthy horses and those with a common congenital malformation known as cryptorchidism, a condition where one or both testes fail to descend into the scrotal sac, leading to fertility issues.

Overview of the Research Aim and Methodology

  • The goal of this study was to investigate the patterns of gene expression in the testes of horses and identify which genes were expressed differently between healthy horses and those suffering from cryptorchidism.
  • To achieve this, the researchers used RNA sequencing (a technique that enables the examination of the quantity and sequences of RNA in a sample) and real-time qPCR (a laboratory technique of molecular biology based on the polymerase chain reaction), a process used in cell biology to measure the gene expression level.
  • In doing so, they aimed to map comprehensive transcriptomic data, which details the activities of various genes in equine testes, and compare the differences in gene activity between descended testes (DTs) and undescended testes (UDTs).

Findings of the Study

  • The researchers identified 11 genes that were less active in UDTs, potentially due to the higher temperature in the abdomen as compared to the scrotal sac (the normal location for healthy, descended testes). Previous research has linked these 11 genes with male reproduction.
  • The downregulation of these 11 genes may be the reason for the fertility problems observed in cryptorchid horses.
  • The study also discovered two unique homozygous missense mutations in horses suffering from cryptorchidism. These mutations were not found in normal horses, leading the researchers to list them as potential pathogenic mutations, potentially causing or contributing to the disease.
  • These identified mutations need to be further verified in future research to confirm their role in cryptorchidism.

Impact of Research

  • This research expands the understanding of the impact of cryptorchidism on gene expression in horse testes, particularly in regards to genes crucial for male reproduction.
  • The identified genetic markers and potential pathogenic mutations provide a foundation for further studies to delve deeper into the genetic mechanisms underlying cryptorchidism and equip veterinarians and horse breeders with valuable information to better manage and potentially prevent this condition.

Cite This Article

APA
Han H, Dong H, Chen Q, Gao Y, Li J, Li W, Dang R, Lei C. (2020). Transcriptomic Analysis of Testicular Gene Expression in Normal and Cryptorchid Horses. Animals (Basel), 10(1). https://doi.org/10.3390/ani10010102

Publication

ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 10
Issue: 1

Researcher Affiliations

Han, Haoyuan
  • College of Animal Science and Technology, Henan University of Animal Husbandry and Economy, Zhengzhou 450046, China.
  • College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Dong, Hong
  • College of Animal Science and Technology, Shihezi University, Shihezi 832003, China.
Chen, Qiuming
  • College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Gao, Yuan
  • College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Li, Jun
  • College of Animal Science and Technology, Henan University of Animal Husbandry and Economy, Zhengzhou 450046, China.
Li, Wantao
  • Henan Genetic Protection Engineering Research Center for Livestock and Poultry, Zhengzhou 450046, China.
Dang, Ruihua
  • College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Lei, Chuzhao
  • College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.

Grant Funding

  • 81270439 / National Natural Science Foundation of China
  • 906/24030042 906/24030103 / PhD Start-up Fund of Henan University of Animal Husbandry and Economy

Conflict of Interest Statement

The authors declare no conflict of interest.

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