{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T09:51:06Z","timestamp":1782208266719,"version":"3.54.5"},"reference-count":85,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":159,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Mar\u00eda Yuzhi Arjona Delgado","award":["CNS2024-154334"],"award-info":[{"award-number":["CNS2024-154334"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Chromosomal abnormalities involving the sex chromosomes constitute critical genetic factors influencing fertility in horses. Nevertheless, a substantial proportion of individuals carrying sex chromosomal abnormalities exhibit normal reproductive phenotypes, which complicates their identification until adulthood. Here, we present four mares carrying a complex deletion\/translocation rearrangement with the karyotype formula 64, X, del(X)(p\u223c25), t(X; Y)(p\u223c25; q\u223c15). The cases analyzed belong to three unrelated families of Pura Raza Espa\u00f1ola (PRE), all presenting the same chromosomal abnormality. Two of the individuals analyzed were a fertile mare and her foal, demonstrating vertical transmission of the rearrangement to the next generation. The animals were initially flagged for sex chromosome abnormalities due to incompatibilities between phenotypic and genotypic sex detected during STR analysis for parentage. They were subsequently analyzed for copy number abnormalities and sex chromosome assessment using an equine commercial SNP-array-based methodology, detecting a large heterozygous 10\u2009Mb deletion located at the distal part of the ChrX p-arm, as well as the existence of a genomic region associated with ChrY. Fluorescence in situ hybridization (FISH) further confirmed that ChrY-derived material was translocated to the same distal part of the ChrX p-arm. Finally, bioinformatic tools were used to evaluate the abundance of CpG islands and to perform a functional analysis of the genes located in the affected regions. These results may suggest that reproductive competence in the fertile mare could be explained by the production of euploid zygotes carrying at least one copy of the intact X chromosome. This study highlights the importance of accurate detection and characterization of chromosomal abnormalities in horses, particularly in individuals with apparently normal reproductive phenotypes.<\/jats:p>","DOI":"10.1093\/jas\/skag185","type":"journal-article","created":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T11:33:54Z","timestamp":1781004834000},"source":"Crossref","is-referenced-by-count":0,"title":["Cytogenetic, genomic, and reproductive characterization of four Pura Raza Espa\u00f1ola Mares carrying a 64, X, del(X), t(X; Y) complex karyotype"],"prefix":"10.1093","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4008-2871","authenticated-orcid":false,"given":"Mar\u00eda Yuzhi","family":"Arjona-Delgado","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, Campus de Rabanales , 14071, C\u00f3rdoba,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yamila","family":"Pirosanto","sequence":"additional","affiliation":[{"name":"Departamento de Producci\u00f3n Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata , La Plata 1900,","place":["Argentina"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2276-475X","authenticated-orcid":false,"given":"Terje","family":"Raudsepp","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine and Biomedical Sciences, Texas A&M University , College Station, Texas 77843,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda \u00c1ngeles","family":"Vargas-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, Campus de Rabanales , 14071, C\u00f3rdoba,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Valera","sequence":"additional","affiliation":[{"name":"Departamento de Agronom\u00eda, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agron\u00f3mica, Universidad de Sevilla , Sevilla 41013,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Encina","sequence":"additional","affiliation":[{"name":"Real Asociaci\u00f3n Nacional de Criadores de Caballos de Pura Raza Espa\u00f1ola (ANCCE) , Sevilla 41012,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Azor","sequence":"additional","affiliation":[{"name":"Real Asociaci\u00f3n Nacional de Criadores de Caballos de Pura Raza Espa\u00f1ola (ANCCE) , Sevilla 41012,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Bugno-Poniewierska","sequence":"additional","affiliation":[{"name":"Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow , Krak\u00f3w 31-120,","place":["Poland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Demyda-Peyr\u00e1s","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, Campus de Rabanales , 14071, C\u00f3rdoba,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"2026062305213503400_skag185-B1","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.tvjl.2018.02.011","article-title":"Prevalence of twin foaling and blood chimaerism in purebred Spanish 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