Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
| Autor: | Boudewijn F.H. Ten Hallers, Christine P. Bird, Robert Castelo, Frédérique Béna, Marc Cruts, Xinwei She, Sarantos Gagos, Stylianos E. Antonarakis, Eduardo Eyras, Robert Lyle, Sean Humphray, Samuel Deutsch, Christine Van Broeckhoven, Sheng Yue Wang, Roderic Guigó, Sophie Dahoun, Paola Prandini, Kazutoyo Osoegawa, Pieter J. de Jong, Catherine Ucla, Evan E. Eichler, Alexandre Reymond, Carol Scott, Jane Rogers, Baoli Zhu, Antony V. Cox |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Resource
Euchromatin Heterochromatin Chromosomes Human Pair 21 Biology Genoma humà Contig Mapping Genetics Humans Genetics (clinical) In Situ Hybridization Fluorescence Sequence (medicine) ddc:616 Cromosomes humans Polymorphism Genetic Genome Human Genome project Initial sequence Factors de transcripció Human genome Chromosome 21 Euchromatin/ genetics |
| Zdroj: | Genome research Genome Research, Vol. 17, No 11 (2007) pp. 1690-1696 Recercat. Dipósit de la Recerca de Catalunya instname |
| ISSN: | 1088-9051 |
| Popis: | 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. 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 |
| Databáze: | OpenAIRE |
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