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BBC News Online: Sci/Tech


Thursday, 20 December, 2001, 05:20 GMT

Third genetic 'chapter' published


Chromosome 20: Sanger Centre
The tips of chromosome 20 are visible stained red (Molecular Cytogenetics, Wellcome Trust Sanger Institute)
Helen Briggs

Another chapter in the human book of life has been published.

Scientists have deciphered the complete genetic instructions of a third chromosome, one of the 24 distinct bundles of DNA that carry our genetic material.



This is one more completed chapter of our genomic anatomy textbook
Mike Dexter, Wellcome Trust

The latest to be finished, chromosome 20, is the largest so far.

The discovery could shed light on why some people are more likely to develop common diseases such as diabetes, obesity or eczema because of their genes.

It could also give an insight into variant Creutzfeldt-Jakob disease (vCJD), the human form of mad cow disease. The gene that appears to make some people more susceptible to contracting vCJD is found on chromosome 20.

Disease 'quest'

The work is part of the ongoing Human Genome Project, an international effort to sequence (read) the genetic make-up of humans.


The human genome
The instructions (genes) the human body needs to function are packaged into chromosomes
This complete set of instructions is called the human genome
Human genetic material is parcelled up into 23 pairs of chromosomes
There are 22 numbered chromosomes plus two sex chromosomes, the X and the Y
One third of the work was carried out in the UK at the Wellcome Trust Sanger Institute near Cambridge.

Dr Mike Dexter, Director of the Wellcome Trust, said: "This is one more completed chapter of our genomic anatomy textbook - medical research will be using this information for decades to come in its quest to tackle our common diseases.

"Once again, we are seeing the fruits of the two key commitments of the Human Genome Project: to make the sequence freely available and to produce a quality finished sequence."

'Gold standard'

The first draft of the entire human genome, the instructions needed to make a human being, was unveiled in the spring.

The work was carried out by two groups, the publicly funded International Human Genome Sequencing Consortium, and a private US company, Celera Genomics.

Dr Deloukas: Wellcome Trust
Scientists are now trying to fill in some of the gaps in the data to come up with a "gold standard".

Two human chromosomes have already been completed to this standard. The sequence of chromosome 22 was revealed two years ago. This was followed, in May 2000, by chromosome 21.

The completion of chromosome 20 is significant for a number of reasons:

Dr Panos Deloukas, leader of the project at the Sanger Institute, said the discovery was another important step towards understanding the link between genes and diseases.

"The next step is to start understanding the functions of the genes," Dr Deloukas told BBC News Online.

"The sequence, the genes and the variations between people in the population is the tool to start dissecting complex common diseases like diabetes, obesity and eczema."

The chromosome 20 results are published in full in the journal Nature.



Related to this story:
Dispute over number of human genes (07 Jul 01 | Sci/Tech) Code crackers to settle differences (18 Feb 01 | San Francisco) Row over 'Book of Life' (12 Feb 01 | Sci/Tech)


Internet links: Nature | Sanger Centre | Chromosome 20 project | The Wellcome Trust | Yourgenome |
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