Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

DNA sequence of chromosome 7 decoded

11.04.2003


Canadian-led project generates database with medical annotation available to the public



Scientists at The Hospital for Sick Children (HSC) have compiled the complete DNA sequence of human chromosome 7 and decoded nearly all of the genes on this medically important portion of the human genome. The research, which involved an international collaboration of 90 scientists from 10 countries, publishes in the online version of the scientific journal Science on April 10, 2003.

Two years ago, a draft (or fragmented) human genome DNA sequence was published by the public Human Genome Project, and separately by Celera Genomics. To coincide with celebrations of the 50th anniversary of the discovery of the structure of DNA, the DNA sequencing phase of the Human Genome Project will be declared completed in April.


"In a massive study, we combined all information in public and private databases, including data generated by Celera Genomics, as well 15 years of our data and analyses to generate what we believe is the most comprehensive description of any human chromosome. Chromosome 7 is often referred to as ’Canada’s chromosome’ because of this country’s major contribution to the mapping and identification of many important disease genes on that chromosome over many years," said the study’s lead author Dr. Stephen Scherer, a senior scientist at The Hospital for Sick Children and an associate professor in the Department of Molecular and Medical Genetics at the University of Toronto (U of T).

"This is the first time that a significant effort has been made to incorporate medical observations with DNA sequence as part of genomic research, which will make it accessible and useful to health-care professionals and researchers outside of the genomics field," said Dr. Johanna Rommens, a study co-author, interim head of the Genetics and Genomic Biology Research Program at HSC, and an associate professor in the Department of Molecular and Medical Genetics at U of T.

There are 23 pairs of chromosomes in the human genome and each person inherits one of each set from their parents. The chromosomes encode genes that control all aspects of human development including some behavioural characteristics.

This study revealed that 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 project 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.

In the study, all medically relevant landmarks along the chromosome were 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.

The information generated by the chromosome 7 project has been established in a publicly accessible database that can be used to facilitate disease gene research. For example, a physician can enter the genetic deletions found in a patient and the known phenotypes (manifestations of the genetic mutation) are identified. The chromosome 7 database is available at www.chr7.org (the site is publicly accessible after the journal embargo lifts).

Dr. Martin Godbout, president and CEO of Genome Canada said, "This work represents an unprecedented Canadian contribution to the Human Genome Project. More importantly, it exemplifies how genetic, genomic, and clinician scientists in the public and private sectors worldwide can work together in a common goal to understand the human genome and its role in health and disease."


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.

The Hospital for Sick Children, affiliated with the University of Toronto, is Canada’s most research-intensive hospital and the largest centre dedicated to improving children’s health in the country. Its mission is to provide the best in family-centred, compassionate care, to lead in scientific and clinical advancement, and to prepare the next generation of leaders in child health. For more information, please visit http://www.sickkids.ca.

For more information, please contact:
Laura Greer, Public Affairs
The Hospital for Sick Children
416-813-5046
laura.greer@sickkids.ca

Anie Perrault
Vice-President, Communications
Genome Canada
613-751-4460 ext. 13
aperrault@genomecanda.ca

Laura Greer | EurekAlert!
Further information:
http://www.utoronto.ca/
http://www.sickkids.ca

More articles from Life Sciences:

nachricht Chains of nanogold – forged with atomic precision
23.09.2016 | Suomen Akatemia (Academy of Finland)

nachricht Self-assembled nanostructures hit their target
23.09.2016 | King Abdullah University of Science and Technology

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: OLED microdisplays in data glasses for improved human-machine interaction

The Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP has been developing various applications for OLED microdisplays based on organic semiconductors. By integrating the capabilities of an image sensor directly into the microdisplay, eye movements can be recorded by the smart glasses and utilized for guidance and control functions, as one example. The new design will be debuted at Augmented World Expo Europe (AWE) in Berlin at Booth B25, October 18th – 19th.

“Augmented-reality” and “wearables” have become terms we encounter almost daily. Both can make daily life a little simpler and provide valuable assistance for...

Im Focus: Artificial Intelligence Helps in the Discovery of New Materials

With the help of artificial intelligence, chemists from the University of Basel in Switzerland have computed the characteristics of about two million crystals made up of four chemical elements. The researchers were able to identify 90 previously unknown thermodynamically stable crystals that can be regarded as new materials. They report on their findings in the scientific journal Physical Review Letters.

Elpasolite is a glassy, transparent, shiny and soft mineral with a cubic crystal structure. First discovered in El Paso County (Colorado, USA), it can also be...

Im Focus: Complex hardmetal tools out of the 3D printer

For the first time, Fraunhofer IKTS shows additively manufactured hardmetal tools at WorldPM 2016 in Hamburg. Mechanical, chemical as well as a high heat resistance and extreme hardness are required from tools that are used in mechanical and automotive engineering or in plastics and building materials industry. Researchers at the Fraunhofer Institute for Ceramic Technologies and Systems IKTS in Dresden managed the production of complex hardmetal tools via 3D printing in a quality that are in no way inferior to conventionally produced high-performance tools.

Fraunhofer IKTS counts decades of proven expertise in the development of hardmetals. To date, reliable cutting, drilling, pressing and stamping tools made of...

Im Focus: Launch of New Industry Working Group for Process Control in Laser Material Processing

At AKL’16, the International Laser Technology Congress held in May this year, interest in the topic of process control was greater than expected. Appropriately, the event was also used to launch the Industry Working Group for Process Control in Laser Material Processing. The group provides a forum for representatives from industry and research to initiate pre-competitive projects and discuss issues such as standards, potential cost savings and feasibility.

In the age of industry 4.0, laser technology is firmly established within manufacturing. A wide variety of laser techniques – from USP ablation and additive...

Im Focus: New laser joining technologies at ‘K 2016’ trade fair

Every three years, the plastics industry gathers at K, the international trade fair for plastics and rubber in Düsseldorf. The Fraunhofer Institute for Laser Technology ILT will also be attending again and presenting many innovative technologies, such as for joining plastics and metals using ultrashort pulse lasers. From October 19 to 26, you can find the Fraunhofer ILT at the joint Fraunhofer booth SC01 in Hall 7.

K is the world’s largest trade fair for the plastics and rubber industry. As in previous years, the organizers are expecting 3,000 exhibitors and more than...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Experts from industry and academia discuss the future mobile telecommunications standard 5G

23.09.2016 | Event News

ICPE in Graz for the seventh time

20.09.2016 | Event News

Using mathematical models to understand our brain

16.09.2016 | Event News

 
Latest News

Chains of nanogold – forged with atomic precision

23.09.2016 | Life Sciences

New leukemia treatment offers hope

23.09.2016 | Health and Medicine

Self-assembled nanostructures hit their target

23.09.2016 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>