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.