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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

¹ Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland; ² Children's Hospital Oakland Research Institute, Oakland, California 94609, USA; ³ Wellcome Trust Sanger Institute, Cambridge CB10 1SA, United Kingdom; ⁴ Research Group on Biomedical Informatics, Pompeu Fabra University and Municipal Insititute of Medical Research, E-8003 Barcelona, Catalonia, Spain; ⁵ Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, BE-2610 Antwerpen, Belgium; ⁷ Department of Genome Sciences, University of Washington and Howard Hughes Medical Institute, Seattle, Washington 98195-5065, USA; ⁸ Chinese National Human Genome Center at Shanghai, Shanghai 201203, China; ⁹ Centre for Genomic Regulation E-8003 Barcelona, Catalonia, Spain; ¹⁰ Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland

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.

¹¹ Present addresses: Department of Medical Genetics, Ullevål University Hospital, 0407 Oslo, Norway;

¹² Laboratory of Genetics, Foundation of Biomedical Research of the Academy of Athens, 115 27 Athens, Greece.

¹³ Corresponding authors.

E-mail Robert.Lyle{at}medisin.uio.no; fax 47-22-11-98-99.

E-mail Stylianos.Antonarakis{at}medecine.unige.ch. fax 41-22-379-5706.

[Supplemental material is available online at www.genome.org and at genome.imim.es/datasets/hsa21p. The BAC sequence data from this study have been submitted to the EMBL Nucleotide Sequence Database under accession nos. CR381572, CR381670, CR392039, CR381535, CR381653, CR382332, CR382285, and CR382287.]

Article published online before print. Article and publication date are at http://www.genome.org/cgi/doi/10.1101/gr.6675307

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