Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
Year: 2007
Type: preprint
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.
Source: Genome Research
DOI: 10.1101/gr.6675307
Authors: 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 Broeckhoven, Evan E. Eichler, Roderic Guigo, Jane Rogers, Pieter J. de Jong, Alexandre Reymond, Stylianos E. Antonarakis
Institutions: University of Geneva, University Hospital of Geneva, UCSF Benioff Children's Hospital, Wellcome Sanger Institute, Universitat Pompeu Fabra, Academy of Athens, University of Antwerp, Howard Hughes Medical Institute, University of Washington, Chinese National Human Genome Center, Chinese National Human Genome Center at Shanghai, Centre for Genomic Regulation, University of Lausanne
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2100480706