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Título : Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype
Autor : Mendoza, M. N.
Schalnus, S. A.
Thomson, B.
Bellone, R. R.
Juras, R.
Raudsepp, T.
Fecha de publicación : 5-nov-2020
Resumen : Complex 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.
Palabras clave : Complex rearrangement
X-autosome translocation
Editorial : Karger
Citación : Mendoza 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: 10.1159/000511236
URI : https://hdl.handle.net/20.500.12955/1410
metadata.dc.identifier.doi: https://doi.org/10.1159/000511236
metadata.dc.subject.ocde: https://purl.org/pe-repo/ocde/ford#4.04.02
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