Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype
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 unb...
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| Format: | info:eu-repo/semantics/article |
| Language: | Inglés |
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Karger
2021
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| Online Access: | https://hdl.handle.net/20.500.12955/1410 https://doi.org/10.1159/000511236 |
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| author | Mendoza, M. N. Schalnus, S. A. Thomson, B. Bellone, R. R. Juras, R. Raudsepp, T. |
| author_browse | Bellone, R. R. Juras, R. Mendoza, M. N. Raudsepp, T. Schalnus, S. A. Thomson, B. |
| author_facet | Mendoza, M. N. Schalnus, S. A. Thomson, B. Bellone, R. R. Juras, R. Raudsepp, T. |
| author_sort | Mendoza, M. N. |
| collection | Repositorio INIA |
| description | 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. |
| format | info:eu-repo/semantics/article |
| id | INIA1410 |
| institution | Institucional Nacional de Innovación Agraria |
| language | Inglés |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Karger |
| publisherStr | Karger |
| record_format | dspace |
| spelling | INIA14102022-11-21T20:18:10Z Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype Mendoza, M. N. Schalnus, S. A. Thomson, B. Bellone, R. R. Juras, R. Raudsepp, T. Complex rearrangement Dicentric Horse Unbalanced X-autosome translocation https://purl.org/pe-repo/ocde/ford#4.04.02 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. Abstract. Introduction. Material and Methods. Results. Discussion. Conclusions and Future Approaches. References. 2021-07-19T18:40:13Z 2021-07-19T18:40:13Z 2020-11-05 info:eu-repo/semantics/article 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 https://hdl.handle.net/20.500.12955/1410 Cytogenet and Genome Research https://doi.org/10.1159/000511236 eng Cytogenet and Genome Research 2020; 160: 597–609 https://doi.org/10.1159/000511236 info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-nd/4.0/ application/pdf application/pdf Estados Unidos Karger Suiza Instituto Nacional de Innovación Agraria Repositorio Institucional - INIA |
| spellingShingle | Complex rearrangement Dicentric Horse Unbalanced X-autosome translocation https://purl.org/pe-repo/ocde/ford#4.04.02 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 |
| title | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype |
| title_full | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype |
| title_fullStr | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype |
| title_full_unstemmed | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype |
| title_short | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype |
| title_sort | novel complex unbalanced dicentric x autosome rearrangement in a thoroughbred mare with a mild effect on the phenotype |
| topic | Complex rearrangement Dicentric Horse Unbalanced X-autosome translocation https://purl.org/pe-repo/ocde/ford#4.04.02 |
| url | https://hdl.handle.net/20.500.12955/1410 https://doi.org/10.1159/000511236 |
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