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


Autoria(s): Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; Ten Hallers, Boudewijn; Humphray, Sean; Zhu, Baoli; Eyras Jiménez, Eduardo; Castelo, Robert; Bird, Christine P.; Gagos, Sarantos; Scott, Carol; Cox, Antony; Deutsch, Samuel; Ucla, Catherine; Cruts, Marc; Dahoun, Sophie; She, Xinwei; Bena, Frederique; Wang, Sheng-Yue; Van Broeckhoven, Christine; Eichler, Evan E.; Guigó Serra, Roderic; Rogers, Jane; De Jong, Pieter J.; Reymond, Alexandre; Antonarakis, Stylianos E.
Data(s)

02/07/2013

Resumo

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.

Identificador

http://hdl.handle.net/10230/16476

Idioma(s)

eng

Publicador

Cold Spring Harbor Laboratory Press-CSHL Press

Direitos

info:eu-repo/semantics/openAccess

© 2007 Genome Research by Cold Spring Harbor Laboratory Press. Published version available at <a href="http://genome.cshlp.org.">http://genome.cshlp.org.</a> Aquest document està subjecte a Llicència Creative Commons (Attribution-NonCommercial 3.0 Unported License)

<a href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</a>

Palavras-Chave #Cromosomes humans #Genoma humà #Factors de transcripció
Tipo

info:eu-repo/semantics/article

info:eu-repo/semantics/publishedVersion