Research Project

Website: www.chr7.org

Summary

Scientists and the medical community have long taken a keen interest in human chromosome 7, which contains many genes crucial to development. It also carries the cystic fibrosis gene and often sustains damage in some types of leukaemia and other cancers.

The overall goal of this project was to complete a gene map and apply it to disease study, as well as to annotate all pertinent biological features in the DNA sequence of chromosome 7. The strategy throughout was to generate and collate all genomic data and to integrate this with every available piece of clinical and functional genetic information.

Perhaps the project’s highlight was the team’s publication of a seminal manuscript in Science in 2003, describing an accurate DNA sequence and annotation of chromosome 7. This was the first such paper, confirming the group’s worldwide lead in studying this portion of the human genome. In collaboration with 90 scientists from 10 countries and Celera Genomics, researchers assembled 158 million nucleotides of DNA sequence, identified 1,917 gene structures, and anchored numerous structural features to the sequence map.  The team also launched the first website and database to facilitate community-based annotation of chromosome 7, which remain the most relevant site for information on the chromosome.  It also sent the unique molecular reagents from this project to over 240 scientists around the world to assist their research.

The study of disease was also an applied goal of this project. The team collaborated with many scientists to further research disease genes and discovered two disease genes that have led to patent filing. The project’s international standing continues to attract outside funds for spin-off work as well as new trainees from many nations to Canada.

Fast Facts

• Highlighted outcome:  Publication of a seminal manuscript in Science in 2003, describing an accurate DNA sequence and annotation of the entire human chromosome 7.
• Number of research personnel:  23.
• Number of peer-reviewed publications:  38 peer-reviewed manuscripts and 9 book chapters.
• Resources generated:  Products have gone to more than 350 investigators abroad, many of them probes for patient studies or diagnosis.
• Number of patents in process or obtained:  Discovery of two disease genes leading to patent filing.

Notable Publications
Scherer SW et al. 2003. Human  chromosome 7: DNA  sequence and  biology. Science. 300:767-72.

Somerville MJ, Mervis CB, Young EJ, Seo E-J, del Campo M, Bamforth JS, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morri,  CA, Scherer SW, and Osborne LR. 2005. Severe expressive-language delay related to duplication of the Williams-Beuren Locus. N  Engl  J  Med. 353:1694-1701.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui L-C, and Scherer SW. 2001. A 1.5 million base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat.  Genet. 29:321-5.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, and Rommens JM. 2003. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat.  Genet. 33:97-101.

Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao R, Khaja R, and Scherer SW. 2005. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet.  1, Annotation of Chromosome 7:489-98.