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

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

doi:10.1101/gr.6675307

Scientific article

English

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

Published in

Genome research, vol. 17, no. 11, p. 1690-1696

Publication date

2007

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.

Keywords

Chromosomes, Human, Pair 21
Contig Mapping
Euchromatin/ genetics
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Polymorphism, Genetic

UNIGE affiliation entities

Faculté de médecine / Section de médecine clinique / Département de médecine

Citation (ISO format)

LYLE, Robert et al. Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. In: Genome research, 2007, vol. 17, n° 11, p. 1690–1696. doi: 10.1101/gr.6675307

Article

Identifiers

PID : unige:8871
DOI : 10.1101/gr.6675307
PMID : 17895424

Additional URL for this publication

http://genome.cshlp.org/content/17/11/1690.full.pdf

Journal ISSN

1088-9051

659views

0downloads

Creation

12/07/2010 11:58:48

First validation

12/07/2010 11:58:48

Update

14/03/2023 15:51:48

Status update

14/03/2023 15:51:48

Last indexation

29/10/2024 15:53:25

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

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

Citation (ISO format)

Main files (1)

Identifiers

Additional URL for this publication

Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation