Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
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.
Lyle
Robert
R
Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland. Robert.Lyle@medisin.uio.no
Prandini
Paola
P
Osoegawa
Kazutoyo
K
ten Hallers
Boudewijn
B
Humphray
Sean
S
Zhu
Baoli
B
Eyras
Eduardo
E
Castelo
Robert
R
Bird
Christine P
CP
Gagos
Sarantos
S
Scott
Carol
C
Cox
Antony
A
Deutsch
Samuel
S
Ucla
Catherine
C
Cruts
Marc
M
Dahoun
Sophie
S
She
Xinwei
X
Bena
Frederique
F
Wang
Sheng-Yue
SY
Van Broeckhoven
Christine
C
Eichler
Evan E
EE
Guigo
Roderic
R
Rogers
Jane
J
de Jong
Pieter J
PJ
Reymond
Alexandre
A
Antonarakis
Stylianos E
SE
D002891:Chromosomes, Human, Pair 21; D020451:Contig Mapping; D022041:Euchromatin / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011110:Polymorphism, Genetic
D022041:Euchromatin