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 28 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 (http://www.gene.ucl.ac.uk/scw9db.shtml).
This report and other information on chromosome 9 can be found on the
chromosome 9 homepage
at the URL: http://www.gene.ucl.ac.uk/chr9/