The fifth international human chromosome 1 workshop was held at the Sanger Centre, Cambridge, England on August 5-7, 1999, with thirty-three delegates participating. The objectives of the workshop and its participants were to examine and discuss continuing efforts to map, sequence, and characterize chromosome 1, to promote the accessibility of genomic data generated both at the Sanger Centre and in individual laboratories, to discuss efforts towards the identification and analysis of chromosome 1-specific disease loci and genomic rearrangements, and to develop and use informatics tools for more efficient genomic analysis.

A major focus of the entire meeting was discussing the progress made towards the chromosome 1 mapping and sequencing project at the Sanger Centre, as well as in the group's efforts to annotate and mine the sequence to gain a greater understanding of the chromosome's information. Two groups discussed informatics resources designed to catalog and integrate chromosome 1 mapping, sequencing, and functional data for easy access on the Internet. A number of groups presented localized, high-resolution mapping and/or sequencing projects for use in disease gene searches, and in comparisons with homologous regions on other human chromosomes or in other species.

Work presented at the cancer sessions included several investigations of the pediatric malignancy neuroblastoma. Four delegates presented updates on the search for neuroblastoma tumor suppressor genes in 1p36 and 1p32. The region of 1p36 was also the focus of laboratories characterizing hepatocellular and colorectal carcinoma rearrangements. Two groups discussed their analysis of proximal 1q amplification frequently occurring in sarcomas and hepatocellular carcinomas. A large and detailed physical map of 1q24.3-q31.1 was presented by researchers investigating a hereditary prostate carcinoma locus.

Several presentations highlighted efforts to identify loci for genetic diseases mapping to chromosome 1. Projects included localization of the causative loci for Charcot-Marie-Tooth 2A (1p36), venous malformations (1p21-p22), retinitis pigmentosa 18 (1q21), partial lipodystrophy (1q21-q22), type 2 diabetes (1q21-q23), Van der Woude syndrome (1q32-q41), and hypoparathyroidism-retardation-dysmorphism syndrome (1q42-q43).

A number of bioinformatics-related sessions were included both to present new research in this area and to provide researchers with opportunities to test newly-developed informatics tools. An extensive set of analysis and display tools developed at the Sanger Centre to complement chromosome 1 data generation, and the CompView project to integrate and display all genomic data from chromosome 1, were presented. A demonstration of the Chromosome 1 Home Page was also provided.

A presentation describing the identification of the gene responsible for thiamine-responsive megaloblastic anemia emphasized the importance and success of single chromosome workshops, as the TRMA gene was found in part through a collaboration initiated a year earlier at the previous workshop. Indeed, 40% of the presented abstracts included collaborations between 2 or more groups attending previous workshops. Further evidence for the rapid progression of chromosome 1 research includes the fact that genes have now been identified for over half of all diseases mapping to chromosome 1, and that accelerated sequencing efforts in the last year have generated completed or draft sequence for 16% of the chromosome to date. Workshop attendees agreed that the release of a completed draft sequence in the near future would positively impact disease gene searches. Therefore, a tentative agreement was made to organize a sixth workshop in the next 12-18 months.

Acknowledgments

The costs of the fifth chromosome 1 workshop were supported in part by the Wellcome Trust.