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Integration of telomere sequences with the draft human genome sequence.

TitleIntegration of telomere sequences with the draft human genome sequence.
Publication TypeJournal Article
Year of Publication2001
AuthorsRiethman HC, Xiang Z, Paul S, Morse E, Hu XL, Flint J, Chi HC, Grady DL, Moyzis RK
JournalNature
Volume409
Issue6822
Pagination948-51
Date Published2001 Feb 15
ISSN0028-0836
KeywordsChromosomes, Artificial, Bacterial, Chromosomes, Artificial, Yeast, Genome, Human, Human Genome Project, Humans, Telomere
Abstract

Telomeres are the ends of linear eukaryotic chromosomes. To ensure that no large stretches of uncharacterized DNA remain between the ends of the human working draft sequence and the ends of each chromosome, we would need to connect the sequences of the telomeres to the working draft sequence. But telomeres have an unusual DNA sequence composition and organization that makes them particularly difficult to isolate and analyse. Here we use specialized linear yeast artificial chromosome clones, each carrying a large telomere-terminal fragment of human DNA, to integrate most human telomeres with the working draft sequence. Subtelomeric sequence structure appears to vary widely, mainly as a result of large differences in subtelomeric repeat sequence abundance and organization at individual telomeres. Many subtelomeric regions appear to be gene-rich, matching both known and unknown expressed genes. This indicates that human subtelomeric regions are not simply buffers of nonfunctional 'junk DNA' next to the molecular telomere, but are instead functional parts of the expressed genome.

DOI10.1038/35057180
Alternate JournalNature
PubMed ID11237019

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