Ítem
Acceso Abierto

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

Mostrar el registro sencillo de la publicación
dc.creatorPrada, Carlos Fernandospa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:56:54Z
dc.date.available2020-05-25T23:56:54Z
dc.date.created2014spa
dc.description.abstractChromosomal evolution involves multiple changes at structural and numerical levels. These changes, which are related to the variation of the gene number and their location, can be tracked by the identification of syntenic blocks (SB). First reports proposed that ~180–280 SB might be shared by mouse and human species. More recently, further studies including additional genomes have identified up to ~1,400 SB during the evolution of eutherian species. A considerable number of studies regarding the X chromosome’s structure and evolution have been undertaken because of its extraordinary biological impact on reproductive fitness and speciation. Some have identified evolutionary breakpoint regions and fragile sites at specific locations in the human X chromosome. However, mapping these regions to date has involved using low-to-moderate resolution techniques. Such scenario might be related to underestimating their total number and giving an inaccurate location. The present study included using a combination of bioinformatics methods for identifying, at base-pair level, chromosomal rearrangements occurring during X chromosome evolution in 13 mammalian species. A comparative technique using four different algorithms was used for optimizing the detection of hotspot regions in the human X chromosome. We identified a significant interspecific variation in SB size which was related to genetic information gain regarding the human X chromosome. We found that human hotspot regions were enriched by LINE-1 and Alu transposable elements, which may have led to intraspecific chromosome rearrangement events. New fragile regions located in the human X chromosome have also been postulated. We estimate that the high resolution map of X chromosome fragile sites presented here constitutes useful data concerning future studies on mammalian evolution and human disease. © 2014, Springer Science+Business Media New York.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/s00335-014-9537-8
dc.identifier.issn14321777
dc.identifier.issn09388990
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22552
dc.language.isoengspa
dc.publisherSpringer New York LLCspa
dc.relation.citationEndPage635
dc.relation.citationIssueNo. 44176
dc.relation.citationStartPage618
dc.relation.citationTitleMammalian Genome
dc.relation.citationVolumeVol. 25
dc.relation.ispartofMammalian Genome, ISSN:14321777, 09388990, Vol.25, No.44176 (2014); pp. 618-635spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84912051454&doi=10.1007%2fs00335-014-9537-8&partnerID=40&md5=e30f5c3ecfaa5f2375958a52185e0970spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAlu sequencespa
dc.subject.keywordArticlespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordChromosome fragile sitespa
dc.subject.keywordChromosome rearrangementspa
dc.subject.keywordChromosome translocationspa
dc.subject.keywordGene numberspa
dc.subject.keywordGenomicsspa
dc.subject.keywordHumanspa
dc.subject.keywordNonhumanspa
dc.subject.keywordOpen reading framespa
dc.subject.keywordTransposonspa
dc.subject.keywordX chromosomespa
dc.subject.keywordAnimalspa
dc.subject.keywordChromosome fragile sitespa
dc.subject.keywordChromosome mapspa
dc.subject.keywordComparative studyspa
dc.subject.keywordGene rearrangementspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMammalspa
dc.subject.keywordPhylogenyspa
dc.subject.keywordX chromosomespa
dc.subject.keywordMammaliaspa
dc.subject.keywordTransposonspa
dc.subject.keywordAnimalsspa
dc.subject.keywordChromosome Fragile Sitesspa
dc.subject.keywordChromosome Mappingspa
dc.subject.keywordDNA Transposable Elementsspa
dc.subject.keywordGene Rearrangementspa
dc.subject.keywordHumansspa
dc.subject.keywordMammalsspa
dc.subject.keywordPhylogenyspa
dc.subject.keywordX Chromosomespa
dc.titleA high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomicsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Bloque original
Mostrando1 - 1 de 1
Miniatura
Nombre:
Prada-Laissue2014_Article_AHighResolutionMapOfMammalianX.pdf
Tamaño:
2.16 MB
Formato:
Adobe Portable Document Format
Descripción:
Descargar
Colecciones
Artículos