Por favor, use este identificador para citar o enlazar este ítem:
https://pgc-snia.inia.gob.pe:8443/jspui/handle/20.500.12955/1410
Campo DC | Value | Idioma |
---|---|---|
dc.contributor.author | Mendoza Cerna, Mayra Nohelia | - |
dc.contributor.author | Schalnus, S. A. | - |
dc.contributor.author | Thomson, B. | - |
dc.contributor.author | Bellone, R. R. | - |
dc.contributor.author | Juras, R. | - |
dc.contributor.author | Raudsepp, T. | - |
dc.coverage.spatial | Estados Unidos | es_PE |
dc.date.accessioned | 2021-07-19T18:40:13Z | - |
dc.date.accessioned | 2021-11-11T17:41:51Z | - |
dc.date.available | 2021-07-19T18:40:13Z | - |
dc.date.available | 2021-11-11T17:41:51Z | - |
dc.date.issued | 2020-11-05 | - |
dc.identifier.citation | 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 | es_PE |
dc.identifier.issn | 1424-859X | - |
dc.identifier.uri | https://hdl.handle.net/20.500.12955/1410 | - |
dc.description | 13 páginas | es_PE |
dc.description.abstract | 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. | en |
dc.description.tableofcontents | Abstract. Introduction. Material and Methods. Results. Discussion. Conclusions and Future Approaches. References. | en |
dc.format | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Karger | en |
dc.relation.ispartof | Cytogenet and Genome Research | en |
dc.rights | info:eu-repo/semantics/openAccess | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | - |
dc.source | Instituto Nacional de Innovación Agraria | es_PE |
dc.source | Repositorio Institucional - INIA | es_PE |
dc.subject | Complex rearrangement | en |
dc.subject | Dicentric | en |
dc.subject | Horse | en |
dc.subject | Unbalanced | en |
dc.subject | X-autosome translocation | en |
dc.title | Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype | en |
dc.type | info:eu-repo/semantics/article | - |
dc.identifier.doi | https://doi.org/10.1159/000511236 | - |
dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#4.04.02 | - |
dc.publisher.country | Suiza | es_PE |
dc.identifier.journal | Cytogenet and Genome Research | en |
item.languageiso639-1 | en | - |
item.openairetype | info:eu-repo/semantics/article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.fulltext | Con texto completo | - |
crisitem.author.orcid | 0000-0001-9029-4070 | - |
Aparece en Colecciones: | Artículos científicos |
Archivos en este artículo:
Archivo | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype.pdf | Artículo | 743,94 kB | Adobe PDF | Ver / Abrir |
Vista (s) de página
34
Verificado el 23-ene-2024
Descargar (s)
18
Verificado el 23-ene-2024
Google Scholar TM
Verificar
Altmetric
Altmetric
Este ítem está sujeto a una licencia Creative Commons Licencia Creative Commons