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Human Genome News Archive Edition

Vol.12, Nos.1-2   February 2002


Available in PDF
In this issue...

In the News

Special Meeting Report

Web, Publications, Resources

Funding Information

Meeting Calendars & Acronyms

  • Genome and Biotechnology Meetings
  • Training Courses and Workshops
  • Acronyms

Third Human Chromosome Finished

Chromosome 20 Genes Implicated in Diabetes, Obesity

Chromosome 20 is the first to be completely sequenced since publication of the working draft in February 2001. An effort of the Wellcome Trust Sanger Center (U.K.), this is the third and largest human chromosome finished to the high quality specified by the Human Genome Project. A paper reporting the work appeared in the December 20, 2001, issue of Nature. Some genes linked to chromosome 20 are implicated in Creutzfeldt-Jakob disease, severe combined immunodeficiency, Type 2 diabetes, obesity, cataract, and eczema. Other chromosomes completed thus far are 22 and 21, which were published in December 1999 and May 2000, respectively.

At almost 60 million bases, chromosome 20 comprises around 2% of the human genome. About 99.5% of its genetically active (euchromatic) regions were sequenced. Using analysis methods similar to those for the other chromosomes, researchers added such approaches as comparisons with newly released genomic sequences, including mouse and the pufferfish Tetraodon nigroviridis. These analyses can help reveal genes and regulatory elements having essential functions that have remained relatively unchanged by evolution. Authors report that some 727 genes were identified in the sequence.

Finishing the sequence of chromosome 20 (covering over 95% of the euchromatic portion with less then 1error in 10 kb) was a difficult task requiring a tedious “clone-by-clone” approach to find errors as small as single bases. Researchers suggest that some major discrepancies between the public human genome draft and finished data may be due to large duplicated regions of the genome. Completion of the remaining 21 human chromosomes is expected in 2003.

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The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v12n1-2).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.