LONDON 18 May 2006 - Scientists today publish the finished sequence of Chromosome 1, the longest and final chapter in the so-called Book of Life that makes up the human genetic code.
The sequencing, unveiled in the British journal Nature, identifies 3,141 genes on the chromosome, flaws in which have been linked to more than 350 diseases, including cancer development, Parkinson's, Alzheimer's, high cholesterol, mental retardation and the nervous system disorder known as porphyria.
The chromosome amounts to more than 223 million base pairs, or "rungs" on the ladder of DNA that provides the chemical recipe for life. This amounts to nearly eight per cent of the three billion base pairs in the human genome.
The 22 non-sex human chromosomes are numbered from the largest, Chromosome 1, to the smallest, Chromosome 22. Two other chromosomes, X and Y, define gender.
Publication of Chromosome 1 completes a 16-year endeavour by the Human Genome Project (HGP), a public consortium of scientists based principally in the United States and Britain and gathering colleagues in Japan, France, Germany, China and elsewhere.
This group raced against a private U.S. firm, Celera Genomics Corp., to be first to complete a "working draft" of 90 per cent of the genetic code. The race ended in a tie, in June 2000.
Since then, the HGP scientists have diligently finished the work, completing the sequence to within 99.99 per cent for each chromosome, identifying potential genes and diseases that are linked with them and offering an analysis of their evolutionary past.
The result is a data goldmine that is already being exploited in the form of new tools to diagnose many inherited diseases and prototype treatments to block or even reverse some of them.
"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," said Simon Gregory, an assistant professor at Duke University, North Carolina.
Added Mark Walport, director of Britain's Wellcome Trust, a partner in the HGP: "The completion of the project... is a monumental achievement that will benefit the research community for years to come."
