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dc.contributor.authorMendoza, M. N.-
dc.contributor.authorSchalnus, S. A.-
dc.contributor.authorThomson, B.-
dc.contributor.authorBellone, R. R.-
dc.contributor.authorJuras, R.-
dc.contributor.authorRaudsepp, T.-
dc.coverage.spatialEstados Unidoses_PE
dc.identifier.citationMendoza M, N, Schalnus S, A, Thomson B, Bellone R, R, Juras R, Raudsepp T. Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype. Cytogenet Genome Res 2020;160:597-609. doi: 10.1159/000511236es_PE
dc.description.abstractComplex structural X chromosome abnormalities are rare in humans and animals, and not recurrent. Yet, each case provides a fascinating opportunity to evaluate X chromosome content and functional status in relation to the effect on the phenotype. Here, we report the first equine case of a complex unbalanced X-autosome rearrangement in a healthy but short in stature Thoroughbred mare. Studies of about 200 cells by chromosome banding and FISH revealed an abnormal 2n=63,X,der(X;16) karyotype with a large dicentric derivative chromosome (der). The der was comprised of normal Xp material, a palindromic duplication of Xq12q21, and a translocation of chromosome 16 to the inverted Xq12q21 segment by the centromere, whereas the distal Xq22q29 was deleted from the der. Microsatellite genotyping determined a paternal origin of the der. While there was no option to experimentally investigate the status of X chromosome inactivation (XCI), the observed mild phenotype of this case suggested the following scenario to retain an almost normal genetic balance: active normal X, inactivated X-portion of the der, but without XCI spreading into the translocated chromosome 16. Cases like this present unique resources to acquire information about species-specific features of X regulation and the role of X-linked genes in development, health, and disease.es_PE
dc.description.tableofcontentsAbstract. Introduction. Material and Methods. Results. Discussion. Conclusions and Future Approaches. References.es_PE
dc.relation.ispartofCytogenet and Genome Research 2020; 160: 597–609es_PE
dc.sourceInstituto Nacional de Innovación Agrariaes_PE
dc.source.uriRepositorio Institucional - INIAes_PE
dc.subjectComplex rearrangementes_PE
dc.subjectX-autosome translocationes_PE
dc.titleNovel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotypees_PE
dc.identifier.journalCytogenet and Genome Researches_PE
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