Human Genome Project Information. Click to return to home page.

Sponsored by the U.S. Department of Energy Human Genome Program

Human Genome News Archive Edition

Human Genome News, January 1992; 3(5)

Second Chromosome 11 Workshop

The Second Chromosome 11 Workshop, held in Paris May 27-29, 1991, was organized by a scientific committee chaired by Claudine Junien. About 80 participants from Europe, North America, New Zealand, and Japan gathered to discuss progress after HGM 10.5 and the future direction of chromosome 11 mapping. Several French, European, and U.S. organizations sponsored the meeting.

Chromosome 11 has been extensively studied because of the biologically interesting regions p15, p13, q13-14, q22-23, and q25-all positive gene-rich R-bands. Interest is reflected in patches of high marker density around these sites and an uneven distribution of highly polymorphic reference markers along the chromosome. The regions of interest are listed below, along with their associated disorders.

  • 11p13 and 11p15: Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR). Imprinting related to the Beckwith-Wiedemann syndrome (BWS) and associated tumors, loss of heterozygosity, and breakpoints in T-cell leukemias;
  • 11cen to 11q21: multiple endocrine neoplasia (MEN1), atopy, major mental illness, including schizophrenia and bipolar affective disorder, amplification of 11q13 genes, and loss of constitutional heterozygosity in tumors;
  • 11q23 to 11q25: tuberous sclerosis (TSC2), ataxia telangiectasia (AT), and breakpoints in translocations associated with the Ewing sarcoma/peripheral neuroepitheliomas (ES/PNE), the constitutional t(11;22), and T/B cell leukemias.

Most disease associations with chromosome 11 were not established by linkage studies, but the Centre d'Etude du Polymorphisme Humain (CEPH) is now compiling a consensus linkage map.

At the workshop, important contributions were made to the construction and integration of genetic and physical maps of disease loci on chromosome 11.

Many new polymorphic markers have been identified and provisionally placed on the map. Although linkage studies in the CEPH pedigrees had been undertaken for many of these and other reference markers, data analysis was not complete, and therefore the likely order of 11q could not be given. Nevertheless, independent genetic linkage maps of normal and affected chromosomes were consistent, with a few exceptions.

The consensus genetic map was also in close accord (at least in terms of linear order) with physical maps, including breakpoint maps produced over the years and, more recently, with radiation hybrids. Pulsed-field gel electrophoresis (PFGE) in the 11q13 region agrees with the genetic map. Contig analysis with cosmids and yeast artificial chromosome (YAC) clones is proceeding for several chromosome 11 regions. Knowledge of established maps, such as the 16-Mb PFGE map for 11p13, is used for cloning specific genes and for revealing disease-associated gross alterations (e.g., the WAGR region where candidate genes have been recently isolated).

The maps under construction in various laboratories clearly are progressing rapidly, but direct fine-structure comparisons were often compromised by the lack of common reference markers and mapping resources. The value of open-access cosmid and YAC libraries was discussed; making such resources available on gridded filters and as DNA pools for the isolation of specific probes was enthusiastically supported. This effort must be linked to continuing genetic mapping, which requires the development of more and better polymorphic markers to fill gaps on both chromosome arms. There is also a need to define map ends by producing telomere and centromere markers. The evolution of computing tools for collecting and collating mapping data into maps was also seen as an essential requirement for rapid progress.

Workshop participants also felt that identified sets of hybrids for coarse regional maps and finer subregional localization should be readily accessible, possibly through national or international cell repositories. A very extensive set of somatic cell hybrids carrying translocation or deletion chromosomes 11, with in vivo- or in vitro-induced breakpoints, are available and widely used. A proposal that an agreed set of ten well-characterized reference hybrids be made freely available to the community was enthusiastically supported. The means must now be found to make the efficient distribution of these cell lines possible.

The Genome Data Base was available and demonstrated during the workshop by Peter Pearson (Johns Hopkins University).

Chromosome 11 contact:

  • Claudine Junien
    (Int.) 33/1-42-24-13-57
    Fax: (Int.) 33/1-46-47-95-01

Scientific Committee

  • Chair: Claudine Junien
    Institut National de la Santé et de la Recherche Médicale, Paris
  • Glen Evans
    Salk Institute for Biological Studies, La Jolla, Calif.
  • Veronica van Heyningen
    Medical Research Council, Edinburgh
  • Peter Little
    Imperial College of Science, London
  • Marcel Mannens
    University of Amsterdam

Reported by Claudine Junien

Return to Table of Contents

The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v3n5).

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.