title: Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.
abstract: Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner's syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders.
authors.affiliation: Laboratorio de Diagnóstico Genético Veterinario, Departamento de Genética, Universidad de Córdoba, CN IV KM 396, Edificio Gregor Mendel, Campus Rabanales, Córdoba, 14071, España.
authors.forename: G
authors.initials: G
authors.lastname: Anaya
authors.affiliation: Laboratorio de Diagnóstico Genético Veterinario, Departamento de Genética, Universidad de Córdoba, CN IV KM 396, Edificio Gregor Mendel, Campus Rabanales, Córdoba, 14071, España.
authors.forename: A
authors.initials: A
authors.lastname: Molina
authors.affiliation: Departamento de Ciencias Agroforestales, Escuela Tecnica Superior de Ingeniería Agronómica, Universidad de Sevilla, Ctra, de Utrera km 1, 41013, Sevilla, España.
authors.forename: M
authors.initials: M
authors.lastname: Valera
authors.affiliation: Laboratorio de Citogenética Animal Aplicada y Molecular, Departamento de Genética, Universidad de Córdoba, CN IV KM 396, Edificio Gregor Mendel, Campus Rabanales, Córdoba, 14071, España.
authors.forename: M
authors.initials: M
authors.lastname: Moreno-Millán
authors.affiliation: Departamento de Ciencias Agroforestales, Escuela Tecnica Superior de Ingeniería Agronómica, Universidad de Sevilla, Ctra, de Utrera km 1, 41013, Sevilla, España.
authors.forename: P
authors.initials: P
authors.lastname: Azor
authors.affiliation: Instituto de Genética Veterinaria "Ing. Fernando N. Dulout" (UNLP - CONICET LA PLATA), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, Calle 60 y 118 s/n, 1900, La Plata, Argentina.
authors.forename: P
authors.initials: P
authors.lastname: Peral-García
authors.affiliation: Instituto de Genética Veterinaria "Ing. Fernando N. Dulout" (UNLP - CONICET LA PLATA), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, Calle 60 y 118 s/n, 1900, La Plata, Argentina.
authors.forename: S
authors.identifier: http://orcid.org/0000-0003-3286-2441
authors.initials: S
authors.lastname: Demyda-Peyrás
mesh_terms: D000818:Animals; D001947:Breeding; D005260:Female; D005820:Genetic Testing / Q000662:veterinary*; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses / Q000235:genetics*; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D012729:Sex Chromosome Aberrations; D013030:Spain
keywords: chimerism; diagnostic tool; equines; genetic infertility; microsatellites; molecular characterization; mosaicism; sex reversal syndrome; turner syndrome