Human Genome

Nature 409, 948-951 (15 February 2001) | doi:10.1038/35057180; Received 15 November 2000; Accepted 18 December 2000

Integration of telomere sequences with the draft human genome sequence

H. C. Riethman1, Z. Xiang1, S. Paul1, E. Morse1, X.-L. Hu1, J. Flint2, H.-C. Chi3, D. L. Grady3 & R. K. Moyzis3

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.

  1. The Wistar Institute, 3601 Spruce Street, Philadelphia, Pennsylvania 19104, USA
  2. Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
  3. Department of Biological Chemistry, College of Medicine, University of California, Irvine, California 92697, USA

Correspondence to: H. C. Riethman1 Correspondence and requests for materials should be addressed to H.C.R. (e-mail: Email: