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Sulston, Sir John Edward

genome human hgp base

(1942– ) British molecular biologist: a leading figure in the sequencing of the human genome.

Sulston, educated at Cambridge and doing postdoctoral work thereafter at the Salk Institute, CA, and Columbia, New York, became Chief Scientist of the MRC Laboratory for Molecular Biology in Cambridge in 1969 and Director of the Sanger Centre there from 1992 to 2000. Before 1983 he had made a close study of the 1mm long nematode worm C. elegans by conventional microscopy: later he was co-leader, with R Waterston of Washington University, St Louis, of a team which decoded its entire genome by 1998. The worm has only 959 cells and about 20 000 genes, but the decoding needed 15 years work by the team, which involved collaboration among 250 laboratories worldwide. By the late 1980s they and other molecular biologists were part of the Human Genome Project . Their ultimate target was to define the much larger human genome, made up of thousands of genes, themselves located at as-yet-undefined places within DNA chains involving over three billion base-pairs, and forming the 23 human chromosome pairs .

The HGP by the 1990s embraced the Sanger Centre in association with four major US laboratories and some hundreds of smaller widespread ones. In 1991 the National Institutes of Health (NIH) in the USA applied for patents on some DNA fragments sequenced by a group led by Craig then of NIH. The concept of patenting genetic information was opposed by Sulston and by , then head of the HGP, who resigned the next year. From then on, work on the human genome effectively became a contest between ‘public’ and ‘private’ sectors. Both had financial backing by the pharmaceutical industry; but the former (with Sulston as a leading figure) supported an ‘open data access’ policy; the latter, led by Venter, saw investment and commercial possibilities as necessary for speedy success. The contestants had different laboratory techniques as well as philosophies. Some measure of harmony was reached in June 2000, as shown by a joint announcement from Venter (who left HGP in 1998 and was now President of Celera Genomics) and the HGP team (with Sulston heading its lead group at the Sanger Centre) reporting a ‘working draft’ giving the base sequence for most of the genome. This outstanding achievement leaves much to be done however. The genes, whose function is to direct formation of the proteins which are the working parts of the body, have yet to be located within the long DNA chains; the majority of the base sequences (‘junk’) having no known function. Clinical applications of the data, rich in potential, are yet to come.

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