Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genome doesn’t start with ’G’: Study of the largest and last chromosome of the human genome published

18.05.2006
The Wellcome Trust Sanger Institute and colleagues in the UK and USA today publish the longest and final chapter in what has been called The Book of Life -- the text and study of our human genetic material. Published in Nature, the report of the sequence of human chromosome 1 is the final chromosome analysis from the Human Genome Project.

The sequence has been used to identify more than 1000 new genes and is expected to help researchers find novel diagnostics and treatments for many diseases. In the past year alone, genes involved in a dozen diseases, including cancer and neurological disease, have been identified using the freely available chromosome 1 sequence and DNA resources.

"The sequence we have generated, like that produced by our collaborators throughout the Human Genome Project, has driven biomedical discovery," said Dr Simon Gregory, Assistant Professor from Duke University, who led the project while at the Sanger Institute. "This moment, the publication of the sequence from the last and largest human chromosome, completes the story of the HGP and marks the growing wave of biological and medical research founded on the human genome sequence.

Human chromosomes are numbered from the largest (chromosome 1) to the smallest (chromosomes 22 and 21). Chromosome 1 represents around 8% of our genome and contains about twice as many genes as the average chromosome. Each chromosome is composed of many millions of genetic letters or bases, called A, C, T and G. The first genetic letter of chromosome 1 sequence, and hence the beginning of our genome, is "C".

But sequence must be mined to be of benefit: for example, differences in the sequence between individuals will help develop an understanding of diseases associated with this chromosome. Almost 4500 single-letter changes in the genetic code (called SNPs) were identified that could lead to changes in protein activity. In addition, 90 SNPs were found that would result in a shortened -- and possibly inactive -- protein. Although some 15 SNPs are associated with already known protection from malaria and predisposition to porphyria, the function of these newly located SNPs is yet to be discovered.

"A catalyst for our gene discoveries", is how Dr Brian Schutte, Associate Professor of Pediatrics at the University of Iowa, describes the sequence of chromosome 1. "We suspected a gene for a rare human orofacial clefting disease lay on chromosome 1, but had not identified it. Our collaboration with the Sanger Institute led to much more rapid discovery of the gene involved, and also helped show that this gene contributes 12% risk for the common form of cleft lip and palate.

"Our experience demonstrates that sequencing efforts accelerate gene discovery of not only rare genetic disorders, but also common diseases that place the greatest burden on our healthcare system."

As well as the fine-grain variation represented by SNPs, the team localized genes to a number of larger ’chunks’ of DNA that differed between individuals. These chunks are as large as 1 million bases. Some of the regions have been previously implicated in how we vary in our interaction with the environment around us. For example, variations in the region around the GSTM1 gene can alter our susceptibility to cancer-causing chemicals or toxins and influence the toxicity or efficacy of certain drugs.

Chromosome 1 is particularly susceptible to rearrangement and it is thought that disruption to genes within these rearrangements play a role in several cancers and in mental retardation: deletion of regions of chromosome 1 is found in 1/5000 to 1/10,000 live births. The high-quality sequence has already helped researchers around the world to home in on genes that affect a range of cancers.

"The Human Genome Project has provided us with a wealth of information about our genes and their many variations," said Dr Mark Walport, Director of the Wellcome Trust. "It is a vital resource for answering important questions about health and disease. We have been a committed partner in the project since 1992 both in supporting the research and ensuring the results are freely accessible to all.

"The completion of the project, with the publication of the Chromosome 1 sequence, is a monumental achievement that will benefit the research community for years to come and is a credit to all involved."

When seeking funding from the Wellcome Trust for their efforts to sequence the human genome in 1995, the Sanger Institute management wrote: "Sequencing is not an end in itself: it is not the solution of the genome, but merely the baseline information that allows the real aim -- the biology -- to proceed faster". The chromosome 1 project stands as a reflection of that view. Genome sequence powers research to help us understand the biology of our genome and the medical consequences of sequence variation.

Don Powell | alfa
Further information:
http://www.sanger.ac.uk/Info/Press/

More articles from Life Sciences:

nachricht Rainbow colors reveal cell history: Uncovering β-cell heterogeneity
22.09.2017 | DFG-Forschungszentrum für Regenerative Therapien TU Dresden

nachricht The pyrenoid is a carbon-fixing liquid droplet
22.09.2017 | Max-Planck-Institut für Biochemie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Rainbow colors reveal cell history: Uncovering β-cell heterogeneity

22.09.2017 | Life Sciences

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>