The information generated by the Chromosome 7 project has been established in a publicly accessible database, which allows for the community-based annotation of chromosome 7. The objective of this database is to generate the most comprehensive user-friendly description of human chromosome 7 to facilitate biological discovery, disease gene research and medical genetic applications. The DNA sequence of chromosome 7 has every biological and medically relevant feature annotated along its length. In addition to being a primary data source, the database serves to test community ideas and information to produce highly curated data to be submitted to other databases such as NCBI, Ensembl, and UCSC. A major challenge for curation of the database was how to represent chromosome alterations, variants, and polymorphisms and their related phenotypes in an accessible way. Once the entire chromosome 7 had been sequenced in the late 1990s, primarily by the Robert Waterson group at Washington University, there was a need to catalogue all of the genes and their function. The laboratories of Dr. Lap-CheeTsui, Dr. Helen Donis-Keller, and Dr. Karl-Heinz Grzeschik (Marburg, Germany) generated chromosome 7-specific mapping information and they were also actively involved in the curation of genetic information deposited into the Genome Database. The database is aimed at providing useful information to molecular biologists, medical geneticists, and physicians. Chromosome 7 contains 158 million nucleotides of DNA (5 per cent of the genome) and 1,455 genes (of the estimated 28,000 protein-coding genes in the human genome), some of which cause diseases such as cystic fibrosis, leukemia, and autism. The database also describes discoveries of sites along the chromosome where invading viruses integrate, 'fragile' regions prone to breakage, areas called 'gene jungles' and 'gene deserts', as well as primate-specific genes. All medically relevant landmarks along the chromosome are identified, including the several hundred chromosome breakpoints where disease-related mutations occur. The breakpoints found in autism patients were used to pinpoint specific genes associated with the disorder.
This research was supported by Genome Canada through the Ontario Genomics Institute, the Canadian Institutes of Health Research, the Canadian Genetic Diseases Network, The Centre for Applied Genomics at The Hospital for Sick Children, and The Hospital for Sick Children Foundation. Dr. Scherer is an Investigator of the Canadian Institutes of Health Research and International Scholar of the Howard Hughes Medical Institute.