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Home / Equine Research Bank / Genes (Basel) / Molecular Cytogenetic and Y Copy Number Analysis of a Recipr...
Genes2021; 12(12); doi: 10.3390/genes12121892

Molecular Cytogenetic and Y Copy Number Analysis of a Reciprocal ECAY-ECA13 Translocation in a Stallion with Complete Meiotic Arrest.

Abstract: We present a detailed molecular cytogenetic analysis of a reciprocal translocation between horse (ECA) chromosomes Y and 13 in a Friesian stallion with complete meiotic arrest and azoospermia. We use dual-color fluorescence in situ hybridization with select ECAY and ECA13 markers and show that the translocation breakpoint in ECAY is in the multicopy region and in ECA13, at the centromere. One resulting derivative chromosome, Y;13p, comprises of ECAY heterochromatin (ETSTY7 array), a small single copy and partial Y multicopy region, and ECA13p. Another derivative chromosome 13q;Y comprises of ECA13q and most of the single copy ECAY, the pseudoautosomal region and a small part of the Y multicopy region. A copy number (CN) analysis of select ECAY multicopy genes shows that the Friesian stallion has significantly (p < 0.05) reduced CNs of TSPY, ETSTY1, and ETSTY5, suggesting that the translocation may not be completely balanced, and genetic material is lost. We discuss likely meiotic behavior of abnormal chromosomes and theorize about the possible effect of the aberration on Y regulation and the progression of meiosis. The study adds a unique case to equine clinical cytogenetics and contributes to understanding the role of the Y chromosome in male meiosis.
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Publication Date: 2021-11-26 PubMed ID: 34946841PubMed Central: PMC8701272DOI: 10.3390/genes12121892Google Scholar: Lookup
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  • Non-P.H.S.

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research presents a comprehensive molecular cytogenetic analysis of a chromosome translocation in a Friesian stallion that is experiencing complete meiotic arrest and azoospermia. The study also investigates the potential impact of the chromosome abnormality on the regulation of the Y chromosome and meiotic progression.

Molecular Cytogenetic Analysis

  • The researchers conducted a detailed molecular cytogenetic examination. This is an approach that merges cytogenetics and molecular genetics to provide information about the structure and behaviour of chromosomes at a molecular level.
  • The analysis was focused on a reciprocal translocation between horse (ECA) chromosomes Y and 13. Translocation is a type of chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
  • The horse being analyzed was a Friesian stallion suffering from meiotic arrest and azoospermia. Meiotic arrest is a condition where the process of meiosis (which is essential for reproduction) is halted, and azoospermia is a medical condition in which there is no measurable level of sperm in a man’s semen.

Findings from the Fluorescence In Situ Hybridization

  • The scientists used dual-color fluorescence in-situ hybridization (FISH), an advanced cytogenetic technique, with select ECAY and ECA13 markers.
  • The results from the FISH analysis indicated that the translocation breakpoint in ECAY is in the multicopy region and, in ECA13, at the centromere.
  • Two distinct derivative chromosomes resulted from the translocation: one composed of ECAY heterochromatin, a small single copy and partial Y multicopy region, as well as ECA13p; and another made up of ECA13q and most of the single copy ECAY, the pseudoautosomal region, and a small part of the Y multicopy region.

Copy Number Analysis and Loss of Genetic Material

  • The team performed a copy number (CN) analysis of specified ECAY multicopy genes. Copy number variations are changes in the genome that leads to cells having an abnormal number of copies of one or more sections of the DNA.
  • The CN analysis showed that the Friesian stallion had significant reductions in the copy numbers of certain genes. This finding suggests that the translocation may not be completely balanced, and genetic material might be lost in the translocation process.

Implications of the Study

  • The researchers theorize about the possible effect of the aberration on the regulation of the Y chromosome and the progression of meiosis. This could have significant impacts on understanding male reproduction and fertility in horses and potentially in other species as well.
  • This study stands out as it contributes a novel case to equine clinical cytogenetics and helps in understanding the role of the Y chromosome in male meiosis.

Cite This Article

APA
Castaneda C, Ruiz AJ, Tibary A, Raudsepp T. (2021). Molecular Cytogenetic and Y Copy Number Analysis of a Reciprocal ECAY-ECA13 Translocation in a Stallion with Complete Meiotic Arrest. Genes (Basel), 12(12). https://doi.org/10.3390/genes12121892

Publication

Genes
ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 12
Issue: 12

Researcher Affiliations

Castaneda, Caitlin
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA.
Ruiz, Agustin J
  • Department of Veterinary Clinical Sciences, Washington State University, Pullman, WA 99164, USA.
Tibary, Ahmed
  • Department of Veterinary Clinical Sciences, Washington State University, Pullman, WA 99164, USA.
Raudsepp, Terje
  • Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA.

MeSH Terms

  • Animals
  • Centromere / genetics
  • Cytogenetic Analysis / methods
  • Cytogenetics / methods
  • DNA Copy Number Variations / genetics
  • Heterochromatin / genetics
  • Horses / genetics
  • Male
  • Meiosis / genetics
  • Translocation, Genetic / genetics
  • Y Chromosome / genetics

Conflict of Interest Statement

The authors declare no conflict of interest.

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Citations

This article has been cited 1 times.
  1. Castaneda C, Radović L, Felkel S, Juras R, Davis BW, Cothran EG, Wallner B, Raudsepp T. Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups. G3 (Bethesda) 2022 Dec 1;12(12).
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