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Human Genome News Archive Edition

Human Genome News, July 1991; 3(2)

Fourth Mapping and Sequencing Meeting


The fourth annual meeting on Genome Mapping and Sequencing at Cold Spring Harbor, New York, was attended by more than 375 people. Held May 9-12, the meeting was designed to survey systematic efforts to analyze genomes of humans and a variety of model organisms.

It was partially supported by the National Center for Human Genome Research and organized by Charles Cantor (Human Genome Center, Lawrence Berkeley Laboratory), Maynard Olson (Washington University School of Medicine), and Richard Roberts (Cold Spring Harbor Laboratory). The following were among aspects of systematic genome analysis covered:

  • biological insights into the molecular organization of chromosomes;
  • applications to research on specific human diseases;
  • experimental techniques;
  • procedures for storing, analyzing, and communicating data; and
  • methods of automating laboratory procedures.

As the number of large, long-term genome-analysis projects continues to increase, the annual meetings provide a much-needed forum for reporting progress and for discussing experience with various models for the scientific management of these projects. In the words of a veteran contributor to the field, this forum provides a regular, comprehensive overview of "where things stand."

The meeting clearly demonstrated rapid growth in effective activity in the field. Although real novelty surfaces infrequently, the power of experimental approaches is increasing dramatically. These gains arise from incremental improvements in base technologies and from the evolution of more effective ways to combine and apply them. Perhaps the best indication of progress is the rapidity and effectiveness with which genome analysis advances are being applied to important biological problems.

For example, the story behind the most striking biological advance reported at the meeting-the molecular definition of the fragile X site-differs markedly from that of previous successes in cloning genetic-disease genes. The fragile X syndrome, the most common heritable form of mental retardation, encompasses a bizarre combination of genetic, cytogenetic, and phenotypic effects whose genetic behavior is strikingly non-Mendelian. Both chromosomal imprinting and hypermutability appear to be important in the etiology of this disease.

Three different research groups reported success in defining the fragile site. The successful laboratories were all able to identify and then clone the fragile site's DNA by systematic methods; no reliance on end-game serendipity marked this search as it had many earlier searches for disease genes. Cooperation by major genome centers in providing rapid access to yeast artificial chromosome clones and the increased resolving power of fluorescent in situ hybridization to metaphase chromosomes both played critical roles. Broad evidence indicates that the challenge in identifying mutated genes in human genetic disease has shifted from recovering disease-locus DNA to developing proof that a particular candidate gene is the one whose mutant alleles cause disease.


Cold Spring Harbor Sessions and Chairpersons

  • Genome Organization
    M. L. Pardue
    Massachusetts Institute of Technology
  • Large DNA Cloning
    D. J. Portcous
    Medical Research Council, Edinburgh
  • Alu-PCR and Other Methods
    W. Szybalski
    University of Wisconsin
  • Informatics
    S. Brenner
    Medical Research Council, Cambridge, U.K.
  • Polymorphisms and Linkage Methods
    H. Donis-Keller
    Washington University, Missouri
  • Sequencing/Automation
    L. Smith
    University of Wisconsin
  • Large-Scale Mapping Projects
    G. Evans
    Salk Institute for Biological Studies
  • Interesting Loci
    R. Myers
    University of California, San Francisco

Written by Maynard Olson
Washington University School of Medicine

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Human Genome Program, U.S. Department of Energy, Human Genome News (v3n2).

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.