KV4@CU.NIH.GOV (10/03/90)
FIRST INTERNATIONAL WORKSHOP ON HUMAN CHROMOSOME 5 Reported by Carol Westbrook University of Chicago, Dept. of Medicine Phone 312 702-0455 Fax 312 702-3163 Robert Williamson St. Mary's Hospital Medical School, University of London, Dept. of Biochemistry and Molecular Genetics Phone 44 71 723 1997 Fax 44 71 706 3272 Twenty-nine scientists from laboratories in eight countries gathered at St. Mary's Hospital Medical School in London on September 4-5, 1990, for the "First International Workshop on Human Chromosome 5." The meeting was sponsored by the NIH National Center for Human Genome Research, the US Department of Energy, the Medical Research Council of the UK, and GeneLabs, Inc. The objectives of this intensive, two-day workshop were to update the current status of mapping on chromosome 5--including the preparation of consensus maps and assignment of reference markers--and to assess the resources that are available or will be needed for future mapping efforts. It was also anticipated that this meeting would provide valuable scientific input to the Chromosome 5 Committee of the Human Gene Mapping Workshop (HGM 10.5) which was scheduled to take place in Oxford on September 6 - 11. The first session covered progress in genetic and physical mapping. Localization of SMA (Spinal Muscular Atrophy) and FAP (Familial adenomatous polyposis) were discussed. New linkage data were reported for Diastrophic Dysplasia (DTD), a craniofacial dysplasia, placing it on 5q. A large amount of new two-point linkage data were presented which give order for much of the long arm. Progress in physical mapping has been steady, though still far behind what has been accomplished on the smaller chromosomes. Many new markers have been placed by in situ hybridization, though most are concentrated on the distal part of 5q, which seems to be a watershed for growth factor and receptor genes. Detailed physical maps were presented for areas containing growth factor genes (IL3, CSF2, IL4, and IL5) and the FAP region. Of particular note was the report of an extensive collection of hybrids with translocations at 5p, which will provide a valuable resource for continued mapping in this region. Breakout groups were organized to prepare consensus physical and genetic maps of chromosome 5. When the maps were presented the following morning, several interesting features emerged. It was apparent that there is a critical shortage of RFLP probes in certain areas of chromosome 5, in particular 5p and in the area surrounding SMA. It was generally agreed that the numbers of highly informative markers (such as VNTRs or AC repeats) is disproportionately low for this chromosome and should be increased. It was also apparent that there was little overlap between the probes used for construction of genetic maps and those used for physical mapping by in situ hybridization. Lastly, the groups recommended a set of probes which will be useful as reference markers (polymorphic probes which have been unambiguously ordered and span the length of the chromosome). The following proposals met with general approval: -A workshop summary, including lists of available resources (hybrids, probes, libraries) will be prepared and distributed to the participants. -The list of reference markers prepared during the breakout sessions will be proposed for inclusion in the HGM 10.5 report for chromosome 5. -The composite genetic and physical maps will be refined and updated, and eventually submitted for publication. -A newsletter for chromosome 5 will soon begin circulation, to be coordinated by Carol Westbrook, to continue the spirit of collaboration that was begun at this workshop. -It was unanimously agreed that this workshop should continue to meet regularly. Plans for the next chromosome 5 workshop are already underway.