Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers.
Abstract: Sex chromosome aberrations are often associated with clinical signs that affect equine health and reproduction. However, abnormal manifestation with sex chromosome aberration usually appears at maturity and potential disorders may be suspected infrequently. A reliable survey at an early stage is therefore required. Objective: To detect and characterise sex chromosome aberrations in newborn foals by the parentage test and analysis using X- and Y-linked markers. Methods: We conducted a genetic diagnosis combined with a parentage test by microsatellite DNA and analysis of X- and Y-linked genetic markers in newborn light-breed foals (n = 17, 471). The minimum incidence of sex chromosome aberration in horses was estimated in the context of available population data. Results: Eighteen cases with aberrations involving 63,XO, 65,XXY and 65,XXX were found. The XO, XXY (pure 65,XXY and/or mosaics/chimaeras) and XXX were found in 0.15, 0.02 and 0.01% of the population, respectively, based solely on detection of abnormal segregation of a single X chromosome marker, LEX003. Conclusions: Detection at an early age and understanding of the prevalence of sex chromosome aberrations should assist in the diagnosis and managment of horses kept for breeding. Further, the parental origin of the X chromosome of each disorder could be proved by the results of genetic analysis, thereby contributing to cytogenetic characterisation.
Publication Date: 2005-03-23 PubMed ID: 15779627DOI: 10.2746/0425164054223787Google Scholar: Lookup
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- Journal Article
Summary
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The study presents a method for early detection of sex chromosome aberrations in newborn horses using a parentage test and analysis of X- and Y-linked markers. This allows for a better understanding of the prevalence and nature of sex chromosome abnormalities, thus aiding in the management of horses intended for breeding.
Objective and Methods
The researchers have aimed to detect and catalogue sex chromosome aberrations in newborn foals. This has been achieved by conducting a genetic diagnosis test that combines a parentage test by microsatellite DNA and an analysis of X- and Y-linked genetic markers. These tests were carried out on a sizable sample pool of newborn light-breed foals.
- The parentage test by microsatellite DNA serves to identify the parents of the newborn horse, ensuring accurate understanding of inherited traits or characteristics.
- The genetic markers, specifically on the X and Y chromosomes, offer insights into the genetic variations that contribute to sex chromosome abnormalities in newborn foals.
Findings
Following the tests and analysis, the research unearthed 18 cases with aberrations involving 63,XO, 65,XXY and 65,XXX. These are sex chromosome aberrations commonly associated with a range of disorders in mammals.
- The XO case refers to a situation where there’s only one X chromosome present and no second sex chromosome. This condition often results in various developmental issues.
- The XXY and XXX cases refer to instances in which there are additional X chromosomes present. These conditions can also lead to various health issues, including infertility.
The findings indicate that these aberrations exist in 0.15%, 0.02%, and 0.01% of the population respectively, based solely on the detection of abnormal segregation of a single X chromosome marker, LEX003.
Conclusions
The research concludes by emphasizing the importance of detecting sex chromosome aberrations at an early age, which in turn aids in the diagnosis and management of horses intended for breeding.
- Early detection of these disorders gives more time for appropriate interventions, thus improving the outcomes for the affected horses.
- Furthermore, the study highlights the value of genetic analysis results in proving the parental origin of the X chromosome in each disorder, thereby contributing to a more precise cytogenetic characterisation.
Cite This Article
APA
Kakoi H, Hirota K, Gawahara H, Kurosawa M, Kuwajima M.
(2005).
Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers.
Equine Vet J, 37(2), 143-147.
https://doi.org/10.2746/0425164054223787 Publication
Researcher Affiliations
- Laboratory of Racing Chemistry, 1731-2 Tsuruta-cho, Utsunimiya 320-0851, Japan.
MeSH Terms
- Animals
- Base Sequence
- Breeding
- Female
- Genetic Linkage
- Genetic Markers
- Horse Diseases / diagnosis
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horses / genetics
- Male
- Mass Screening / veterinary
- Microsatellite Repeats
- Pedigree
- Sex Chromosome Aberrations / veterinary
- X Chromosome
- Y Chromosome
Citations
This article has been cited 10 times.- Demyda-Peyrás S, Laseca N, Anaya G, Kij-Mitka B, Molina A, Karlau A, Valera M. Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses. Animals (Basel) 2023 Feb 3;13(3).
- Suvá M, Arnold VH, Wiedenmann EA, Jordan R, Galvagno E, Martínez M, Vichera GD. First sex modification case in equine cloning. PLoS One 2023;18(1):e0279869.
- Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Animals (Basel) 2021 Mar 16;11(3).
- Martinez MM, Costa M, Ratti C. Molecular screening of XY SRY-negative sex reversal cases in horses revealed anomalies in amelogenin testing. J Vet Diagn Invest 2020 Nov;32(6):938-941.
- Murase H, Ochi A, Tozaki T, Kakoi H, Munkhtuul T, Kurimoto S, Sato F, Hada T. A case of equine cryptorchidism with undetectable serum anti-Müllerian hormone. J Vet Med Sci 2020 Feb 18;82(2):209-211.
- Gamo S, Tozaki T, Kakoi H, Hirota KI, Nakamura K, Nishii N, Alumunia J, Takasu M. X monosomy in the endangered Kiso horse breed detected by a parentage test using sex chromosome linked genes and microsatellites. J Vet Med Sci 2019 Jan 8;81(1):91-94.
- Kakoi H, Kikuchi M, Tozaki T, Hirota KI, Nagata SI, Hobo S, Takasu M. Distribution of Y chromosomal haplotypes in Japanese native horse populations. J Equine Sci 2018;29(2):39-42.
- Dorji J, Tamang S, Tshewang T, Dorji T, Dorji TY. Genetic diversity and population structure of three traditional horse breeds of Bhutan based on 29 DNA microsatellite markers. PLoS One 2018;13(6):e0199376.
- Switonski M, Szczerbal I, Nowacka-Woszuk J. From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals. J Appl Genet 2025 Sep;66(3):661-673.
- Valera M, Karlau A, Anaya G, Bugno-Poniewierska M, Molina A, Encina A, Azor PJ, Demyda-Peyrás S. The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed. Animals (Basel) 2024 Sep 3;14(17).
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