TY - JOUR A1 - Lyle, Robert A1 - Prandini, Paola A1 - Osoegawa, Kazutoyo A1 - ten Hallers, Boudewijn A1 - Humphray, Sean A1 - Zhu, Baoli A1 - Eyras, Eduardo A1 - Castelo, Robert A1 - Bird, Christine P. A1 - Gagos, Sarantos A1 - Scott, Carol A1 - Cox, Antony A1 - Deutsch, Samuel A1 - Ucla, Catherine A1 - Cruts, Marc A1 - Dahoun, Sophie A1 - She, Xinwei A1 - Bena, Frederique A1 - Wang, Sheng-Yue A1 - Van Broeckhoven, Christine A1 - Eichler, Evan E. A1 - Guigo, Roderic A1 - Rogers, Jane A1 - de Jong, Pieter J. A1 - Reymond, Alexandre A1 - Antonarakis, Stylianos E. T1 - Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Y1 - 2007/11/01 JF - Genome Research JO - Genome Research SP - 000 EP - 000 DO - 10.1101/gr.6675307 VL - 17 IS - 11 UR - http://genome.cshlp.org/content/early/2007/09/25/gr.6675307.abstract N2 - 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. ER -