Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
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- dc.contributor.author Lyle, Robertca
- dc.contributor.author Prandini, Paolaca
- dc.contributor.author Osoegawa, Kazutoyoca
- dc.contributor.author Ten Hallers, Boudewijnca
- dc.contributor.author Humphray, Seanca
- dc.contributor.author Zhu, Baolica
- dc.contributor.author Eyras Jiménez, Eduardoca
- dc.contributor.author Castelo Valdueza, Robertca
- dc.contributor.author Bird, Christine P.ca
- dc.contributor.author Gagos, Sarantosca
- dc.contributor.author Scott, Carolca
- dc.contributor.author Cox, Antonyca
- dc.contributor.author Deutsch, Samuelca
- dc.contributor.author Ucla, Catherineca
- dc.contributor.author Cruts, Marcca
- dc.contributor.author Dahoun, Sophieca
- dc.contributor.author She, Xinweica
- dc.contributor.author Bena, Frederiqueca
- dc.contributor.author Wang, Sheng-Yueca
- dc.contributor.author Broeckhoven, Christine vanca
- dc.contributor.author Eichler, Evan E.ca
- dc.contributor.author Guigó Serra, Rodericca
- dc.contributor.author Rogers, Janeca
- dc.contributor.author De Jong, Pieter J.ca
- dc.contributor.author Reymond, Alexandreca
- dc.contributor.author Antonarakis, Stylianos E.ca
- dc.date.accessioned 2012-05-21T09:45:06Z
- dc.date.available 2012-05-21T09:45:06Z
- dc.date.issued 2007ca
- dc.description.abstract The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, and extensive copy number and sequence variability. The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information.
- dc.description.sponsorship This work was supported by grants from the Swiss National Science Foundation (R.L., A.R., and S.E.A.), the NCCR Frontiers in Genetics (S.E.A.), the European Commission (BioSapiens NoE to R.G. and S.E.A. and AnEUploidy IP to A.R. and S.E.A.), Blanceflor-Boncompagni Ludovisi Foundation (P.P.) and ChildCare foundations (S.E.A.), a bilateral scientific and technological cooperation project between the University of Antwerp and Shanghai Chinese National Human Genome Centre (C.V.B. and S.-Y.W.), and NIH grant HG002385 (E.E.E.). E.E.E. is an investigator of the Howard Hughes Medical Institute
- dc.format.mimetype application/pdfca
- dc.identifier.citation Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B et al. Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res. 2007;17(11):1690-6. DOI: 10.1101/gr.6675307ca
- dc.identifier.doi http://dx.doi.org/10.1101/gr.6675307
- dc.identifier.issn 1088-9051ca
- dc.identifier.uri http://hdl.handle.net/10230/16476
- dc.language.iso engca
- dc.publisher Cold Spring Harbor Laboratory Press-CSHL Pressca
- dc.relation.ispartof Genome Research. 2007;17(11):1690-6
- dc.rights © 2007 Genome Research by Cold Spring Harbor Laboratory Press. Published version available at http://genome.cshlp.org. Aquest document està subjecte a Llicència Creative Commons (Attribution-NonCommercial 3.0 Unported License)ca
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by-nc/3.0/
- dc.subject.other Cromosomes humans
- dc.subject.other Genoma humà
- dc.subject.other Factors de transcripció
- dc.title Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21ca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersion