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

TitleIslands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
Publication TypeJournal Article
Year of Publication2007
AuthorsLyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, Dahoun S, She X, Bena F, Wang SY, Van Broeckhoven C, Eichler EE, Guigo R, Rogers J, de Jong PJ, Reymond A, Antonarakis SE
JournalGenome Res.
Volume17
Pagination1690–1696
Date PublishedNov
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.

URLhttp://dx.doi.org/10.1101/gr.667530
DOI10.1101/gr.6675307