Integration of cytogenetic landmarks into the draft sequence of the human genome
- Creators
- Cheung, V. G.
- Kim, U.-J.
- Lee, J.
Abstract
We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.
Additional Information
© 2001 Macmillan Magazines Ltd. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Received 7 November 1999; Accepted 20 December 2000. We thank M. Arcaro, M. Bakis, J. Burdick, J. Chang, H.-C. Chen, S. Chiu, Y. Fan, C. Harris, L. Haley, R. Hosseini, J. Kent, M. A. Leversha, J. Martin, L.-T. Nguyen, P. Quinn, Y. H. Ramsey, T. Reppert, L. J. Rogers, J. Shreve, J. Stalica, M. Wang, T. Weber, A. M. Yavor, J. Young, K. Zatloukal, and members of the TIGR BAC Ends Team for assistance. This work was supported by grants from NIH (NCI, NHGRI, NIDCD and NICHD), US DOE, NSF, HHMI, PPG, Merck Genome Research Institute, Vysis, Inc., and start-up funds provided by Obstetrics and Gynecology at Brigham and Women's Hospital.Attached Files
Published - 409953a0.pdf
Supplemental Material - 41586_2001_BF35057192_MOESM1_ESM.doc
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Additional details
- PMCID
- PMC7845515
- Eprint ID
- 56219
- Resolver ID
- CaltechAUTHORS:20150330-152656669
- NIH
- Department of Energy (DOE)
- NSF
- Howard Hughes Medical Institute (HHMI)
- Merck Genome Research Institute
- Vysis, Inc.
- Brigham and Women's Hospital
- Created
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2015-03-30Created from EPrint's datestamp field
- Updated
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2023-07-21Created from EPrint's last_modified field