Abstract

The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping. At least eight groups had participated in the goal set at the previous workshop which was to improve the fine genetic mapping in different regions of chromosome 9 by meiotic breakpoint mapping in allocated regions and this has resulted in some greatly improved order information. Excellent computing facilities were available and all contributed maps were entered not only into SIGMA (and thence submitted to GDB) but also into a dedicated version of ACEDB which can be accessed on the Web in the form of one of 28 slices into which the chromosome has been arbitrarily divided. It was generally agreed that the amount of data is now overwhelming and that the integration and validation of all data is not only unrealistic in a short meeting but probably impossible until the whole chromosome has been sequenced and fully annotated. Sequence-ready contigs presented at the meeting totalled about 3 MB which is about one fiftieth of the estimated length. The single biggest barrier to integration of maps is the problem of non-standard nomenclature of loci. In the past 2 workshops efforts have been made to compare traditional 'consensus' maps made by human insight (still probably best for small specific regions) with those generated with some computer assistance (such as SIGMA) and those generated objectively by defined computer algorithms such as ldb. Since no single form of map or representation is entirely satisfactory for all purposes the maps reproduced in the published version of the report are confined to one of the genetic maps, in which Genethon and older markers have been incorporated, a Sigma map of the genes as symbols together with a listing of known 'disease' genes on chromosome 9, and a revised assessment of the mouse map together with a list of mouse loci predicted to be on human chromosome 9. One of the 25 ACEDB slices is also shown to illustrate strengths and weaknesses of this approach. Workshop files include not only all maps available at the time but also details of loci and details of the meiotic breakpoints in the CEPH families.

Highlights

  • REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996

  • Excellent computing facilities were available and all contributed maps were entered into SIGMA and into a dedicated version of ACEDB which can be accessed on the Web in the form of one of 28 slices into which the chromosome has been arbitrarily divided

  • In the past 2 workshops efforts have been made to compare traditional ‘ consensus ’ maps made by human insight with those generated with some computer assistance and those generated objectively by defined computer algorithms such as ldb

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Summary

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REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996. A transcript map of 9p13–p21 (Lynch et al.) and a 2n8 Mb region around the tumour suppressor gene CDKN2 (Olopade et al.) were presented. Tumour suppressor loci The most well characterized tumour suppressor locus on 9p involves the gene CDKN2 of which germline mutations have been described in melanoma and pancreatic cancer families This region has been frequently reported as being the target for high frequency deletions in a wide range of somatic tumours in cell lines and primary tissue. Loss of heterozygosity at the TSC2 locus was signifcantly more frequent in the sporadic patients They tested 7 other tumour suppressor gene regions in the TSC hamartomas and found no evidence of LOH in these regions. FACC can be placed proximal to D9S287, but the position with respect to D9S1851 and D9S1809 cannot be deduced from these data alone

Putative gene
Findings
Brown coat colour
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