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

Robert Lyle, Paola Prandini, Kazutoyo Osoegawa, Boudewijn ten Hallers, Sean Humphray, Baoli Zhu, Eduardo Eyras, Robert Castelo, Christine P. Bird, Sarantos Gagos, Carol Scott, Antony Cox, Samuel Deutsch, Catherine Ucla, Marc Cruts, Sophie Dahoun, Xinwei She, Frederique Bena, Sheng-Yue Wang, Christine Van BroeckhovenEvan E. Eichler, Roderic Guigo, Jane Rogers, Pieter J. de Jong, Alexandre Reymond, Stylianos E. Antonarakis

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1690-1696
Number of pages7
JournalGenome Research
Volume17
Issue number11
DOIs
Publication statusPublished - Nov 2007

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