Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, January 1993; 4(5)
The First International Human Chromosome 12 Workshop was held September 18-20, 1992, at St. Catherine's College, Oxford University. The meeting was supported by the European Commission through the Human Genome Organization, the U.K. Medical Research Council (MRC), DOE, and NIH. Organized by Ian Craig (University of Oxford), Robert Gemmill (Eleanor Roosevelt Institute), and Raju Kucherlapati (Albert Einstein College of Medicine), the conference was attended by 50 participants from Europe and the United States.
Because this was the first workshop on human chromosome 12, participants exchanged information about mapping research strategies. Five working groups evaluated data and prepared a group report. At the final plenary session, several consensus maps were developed.
Significant progress was reported since Human Genome Mapping 11 (held August 1991) in extending markers and incorporating them into the genetic and physical maps. Increases were noted in the number of mapped chromosome 12 genes (from 132 to 147), DNA segments (from 63 to 175), and yeast artificial chromosomes (YACs) (from 1 to more than 45). The genetic map has been improved significantly, and a list of 14 reference loci has been developed for physical and genetic mapping.
Resources. Several resources useful for chromosome 12 mapping were assembled at the meeting. These include (1) 2 somatic cell hybrids with chromosome 12 as their sole human constituent and (2) a panel of 14 somatic cell hybrids that contain chromosome 12 parts and divide the chromosome into 7 distinct regions (I-VII). [Additional information about the hybrid cell panel can be obtained from Martha Liao (Albert Einstein College of Medicine)]. A panel of uncharacterized radiation-reduced hybrids was reported by Kucherlapati. Lawrence Livermore National Laboratory (LLNL) has constructed phage and cosmid libraries from flow-sorted chromosomes, some of which are available through the American Type Culture Collection and others from LLNL [Contact: Pieter de Jong (LLNL), Fax: 510/423-3608].
CEPH Linkage Map. A chromosome 12 linkage map based on Centre d'Etude du Polymorphisme Humain (CEPH) families was recently published [Holt et al., Science 258, 67-86 (1992)]. This map, reported by Tobias Gedde-Dahl (University of Oslo) and Helen Donis-Keller (Washington University) and updated at the workshop, spans 289 cM in females and 144 cM in males. The sex-averaged map has a resolution of 7 cM. E. Dawson (Institute of Psychiatry, London) presented an independent genetic map constructed from 22 microsatellite loci on a set of families termed Institute of Psychiatry Schizophrenia (IOPS). The overall frequency of recombination in these families seems to be somewhat lower than in the CEPH families.
YACs, Cosmids Mapped. A number of investigators have isolated YACs corresponding to chromosome 12 markers. One of these appears to map to 12 pter (Donis-Keller) and includes presumed telomeric sequences. A YAC contig located at 12p13 was reported by Kate Montgomery (Albert Einstein College of Medicine), and a second contig at 12q13.3 by Gemmill. A pulsed-field map for the 12q13.3 region was also presented. More than 100 cosmids were reported mapped to chromosome 12 by fluorescence in situ hybridization (Montgomery).
Genes Mapped. Since HGM 11, several disease genes and genes involved in translocations found in neoplasms have been mapped on chromosome 12. These include (1) spinal cerebellar ataxia type 2 (SCA2) mapped to a region flanked by D12S58 and PLA2 [Georg Auberger (University Hospital, Dusseldorf) and Rebecca Twells (St. Mary's Hospital, London)] and (2) heritable skin disorders involving cytokeratin loci KRT1 and KRT5. In addition, a consistent rearrangement involving a gene called CHOP or GADD153 was detected by Pierre Aman (University Hospital, Lund) in liposarcomas associated with translocations between chromosomes 12 and 16.
Mouse Homologs. The comparative mapping working group reported that homologues of 43 human chromosome 12 loci have been located in the mouse [Jo Peters (MRC, Harwell) and John Edwards (University of Oxford)]. Of these loci, 17 are on mouse chromosome 6 and others on 10 and 15.
Informatics. Participants examined several databases and mapping tools presented by Martin Bishop (Cambridge University), Edwards, Bonnie Maidak (then at Genome Data Base), and others.
The second chromosome 12 workshop, planned for this fall in the United States, is being organized by Kucherlapati, Peter Marynen (Center for Human Genetics, Leuven), and Craig.
Reported by Raju Kucherlapati
Albert Einstein College of Medicine
University of Oxford
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