Integration of telomere sequences with the draft human genome sequence

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 te...

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Veröffentlicht in:Nature (London) 2001-02, Vol.409 (6822), p.948-951
Hauptverfasser: Riethman, H. C., Xiang, Z., Paul, S., Morse, E., Hu, X.-L., Flint, J., Chi, H.-C., Grady, D. L., Moyzis, R. K.
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container_end_page 951
container_issue 6822
container_start_page 948
container_title Nature (London)
container_volume 409
creator Riethman, H. C.
Xiang, Z.
Paul, S.
Morse, E.
Hu, X.-L.
Flint, J.
Chi, H.-C.
Grady, D. L.
Moyzis, R. K.
description 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.
doi_str_mv 10.1038/35057180
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subjects Chromosomes
Chromosomes, Artificial, Bacterial
Chromosomes, Artificial, Yeast
Deoxyribonucleic acid
DNA
Genes
Genome, Human
Genomics
Human Genome Project
Humanities and Social Sciences
Humans
letters-to-nature
multidisciplinary
Science
Telomere
Yeast
Yeasts
title Integration of telomere sequences with the draft human genome sequence
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