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Human Genome News Archive Edition

Human Genome News, July 1992; 4(2)

Fifth Cold Spring Harbor Meeting on Genome Mapping and Sequencing

Reports of encouraging results and promising technology were presented May 6-10 at the fifth annual Cold Spring Harbor Laboratory (CSHL) meeting on Genome Mapping and Sequencing. Organized by Richard Myers (University of California, San Francisco), David Porteous (Western General Hospital, U.K.), and Richard Roberts (CSHL), the workshop featured descriptions of advances in sequencing and mapping projects on the genomes of a variety of organisms. Progress was presented in several informatics programs that could benefit genome research in any organism.

A highlight of the meeting was the presentation by David Page's group [Massachusetts Institute of Technology (MIT)] of the nearly finished map of the euchromatic segment of the Y chromosome. The strategy used was to retrieve yeast artificial chromosomes (YACs) by sequence-tagged-site content and order them under a panel of chromosome Y deletions.

Another important result was presented by Daniel Cohen (Centre d'Etude du Polymorphisme Humain), who announced the development of a library of YAC clones having an average insert size larger than 1.2 Mb. This large-insert YAC resource, which will facilitate rapid expansion of YAC contigs, will be broadly available this fall.

Other mapping efforts are proceeding rapidly:

  • physical maps of chromosomes 21, 22, and X are among the most detailed of the human chromosomes;
  • nearly 1000 polymorphic markers have been mapped genetically in the mouse by Eric Lander's group at the MIT Genome Center; of these, about 750 are PCR-typable SSLP markers (see article); and
  • other groups are constructing maps for a number of important organisms, including Dictyostelium, Schizosaccharomyces pombe, and the dog.

In the realm of sequencing, great progress is being made in the roundworm Caenorhabditis elegans and the yeast Saccharomyces cerevisiae. The entire sequence of yeast chromosome 3 has been determined. Interestingly, many more genes are being found from the DNA sequence of these organisms than had been predicted from previous genetic and biochemical studies. Automated sequencing is becoming increasingly fast and accurate, and Roberts estimated that megabase sequencing projects at a reasonable cost will soon be possible. Ben Koop of Leroy Hood's team (California Institute of Technology) presented comparisons of sequences of the mouse and human T-cell receptor region.

Several advances in gel-based sequencing technology were reported. A Fourier transform method for identifying and reducing noise from fluorescence signals was described by Bruce Roe (University of Kansas). C. Turmel (Xerox Research Center, Canada) and coworkers have improved fragment band separations in the 500+ base range by implementing pulsed-field techniques. The team led by Wilhelm Ansorge (European Molecular Biology Organization, Heidelburg) is now interrogating DNA fractionation gels with multiple lasers, allowing coincident fractionations of samples with different fluor labels.

The first blind sequencing of DNA by oligonucleotide hybridization methods was announced by Radomir Crkvenjakov and Radoje Drmanac (Argonne National Laboratory). Mitch Eggers (Houston Advanced Research Center) described a design for quantitation of DNA fragments hybridized to oligonucleotide arrays utilizing underlying microelectronics. Progress in the gas-phase suspension of oligonucleotides for use in sequencing by mass spectroscopy was reported in Lloyd Smith's (University of Wisconsin) laboratory.

A session was held on database systems to support mapping projects, and several databases were available for demonstration. The National Center for Biological Information has incorporated the cDNA EST database from the laboratory of Craig Venter (NIH) into a DBEST database, promising several added query services [see HGN 3(6), 17 (May 1992)]. Several strategic applications of sequence interpretation systems were reported.


Reported by Nathaniel C. Comfort, Science Writer, Cold Spring Harbor Laboratory

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Human Genome Program, U.S. Department of Energy, Human Genome News (v4n2).

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.