A Non-Reciprocal Autosomal Translocation 64,XX, t(4;10)(q21;p15) in an Arabian Mare with Repeated Early Embryonic Loss.
Abstract: Balanced autosomal translocations are a known cause for repeated early embryonic loss (REEL) in horses. In most cases, carriers of such translocations are phenotypically normal, but the chromosomal aberration negatively affects gametogenesis giving rise to both genetically balanced and unbalanced gametes. The latter, if involved in fertilization, result in REEL, whereas gametes with the balanced form of translocation will pass the defect into next generation. Therefore, in order to reduce the incidence of REEL, identification of translocation carriers is critical. Here, we report about a phenotypically normal 3-year-old Arabian mare that had repeated resorption of conceptuses prior to day 45 of gestation and was diagnosed with REEL. Conventional and molecular cytogenetic analyses revealed that the mare had normal chromosome number 64,XX but carried a non-mosaic and non-reciprocal autosomal translocation t(4;10)(q21;p15). This is a novel translocation described in horses with REEL and the first such report in Arabians. Previous cases of REEL due to autosomal translocations have exclusively involved Thoroughbreds. The findings underscore the importance of routine cytogenetic screening of breeding animals.
© 2015 Blackwell Verlag GmbH.
Publication Date: 2015-11-06 PubMed ID: 26547799DOI: 10.1111/rda.12636Google Scholar: Lookup
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Summary
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This research investigates the cause of repeated early embryonic loss (REEL) in an Arabian mare, discovering a non-reciprocal autosomal translocation in the horse’s chromosomes which may be a new insight into the factors causing REEL.
Research Purpose and Background
- The study aims to understand the genetic factors behind recurring early embryonic loss (REEL) in horses.
- While carriers of balanced autosomal translocations are often phenotypically normal, these chromosomal abnormalities can disrupt gametogenesis, leading to both genetically balanced and unbalanced gametes.
- Unbalanced versions of these gametes, if involved in fertilisation, can result in REEL. If the gametes carry the balanced form of the translocation, the defect will be passed onto the next generation.
- Identification of translocation carriers is crucial in order to reduce the incidence of REEL.
Study Findings
- Researchers focused on a 3-year-old Arabian mare that was phenotypically normal but had experienced repeated conceptus reabsorption before the 45th day of gestation – a diagnostic sign of REEL.
- Both conventional and molecular cytogenetic analyses showed the mare had the normal chromosome number (64,XX) but carried a non-mosaic and non-reciprocal autosomal translocation t(4;10)(q21;p15).
- This translocation is a new finding in horses with REEL and marks the first time such a discovery has been reported in Arabian horses.
- Previous instances of REEL resulting from autosomal translocations have only been found in Thoroughbred horses.
Significance of the Study
- This research establishes the importance of regular cytogenetic screening in breeding animals to identify and manage the spread of chromosomal abnormalities.
- It contributes new knowledge to the body of research about the genetic causes behind REEL in horses, particularly in Arabian breeds.
Cite This Article
APA
Ghosh S, Das PJ, Avila F, Thwaits BK, Chowdhary BP, Raudsepp T.
(2015).
A Non-Reciprocal Autosomal Translocation 64,XX, t(4;10)(q21;p15) in an Arabian Mare with Repeated Early Embryonic Loss.
Reprod Domest Anim, 51(1), 171-174.
https://doi.org/10.1111/rda.12636 Publication
Researcher Affiliations
- Texas A&M University, College Station, TX, USA.
- National Research Centre on Yak, Dirang, Arunachal Pradesh, India.
- Department of Veterinary Population Medicine, University of Minnesota, St. Paul, MN, USA.
- Rogers Bandalero Ranch, Benson, AZ, USA.
- Qatar University, Doha, Qatar.
- Texas A&M University, College Station, TX, USA.
MeSH Terms
- Abortion, Habitual / genetics
- Abortion, Habitual / veterinary
- Abortion, Veterinary / genetics
- Animals
- Female
- Horse Diseases / genetics
- Horses
- In Situ Hybridization, Fluorescence / veterinary
- Karyotyping / veterinary
- Pregnancy
- Translocation, Genetic / genetics
Citations
This article has been cited 4 times.- Roach J, Arango Sabogal JC, Smith K, Foote A, Verheyen K, de Mestre AM. Multivariable analysis to determine risk factors associated with abortion in mares. Reprod Fertil 2022 Nov 1;3(4):301-12.
- Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Animals (Basel) 2021 Mar 16;11(3).
- Shilton CA, Kahler A, Davis BW, Crabtree JR, Crowhurst J, McGladdery AJ, Wathes DC, Raudsepp T, de Mestre AM. Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse. Sci Rep 2020 Aug 7;10(1):13314.
- Baily MP, Avila F, Das PJ, Kutzler MA, Raudsepp T. An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia. Front Genet 2019;10:344.
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