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Finished sequence of human chromosome 20
Edward R. Winstead


Researchers at the Wellcome Trust Sanger Institute in Cambridge, U.K. have published the DNA sequence of human chromosome 20. They identified 727 genes, including 222 novel genes. The annotation was done through comparative analyses using the protein sets of sequenced organisms, partial human gene sequences, or ESTs, and mouse and pufferfish genomic sequences. The mouse and pufferfish data were not available when a draft of this chromosome was published in February 2001.

Chromosome 20 is about 60 million base pairs long, and the new sequence has four gaps, or regions that were extremely difficult to analyze. The third-smallest human chromosome contains genes involved in Creutzfeldt-Jakob disease and severe combined immunodeficiency. It is the third finished chromosome published by members of the international consortium known as the Human Genome Project. Panos Deloukas led the research.

The new sequence "will be a valuable tool in tackling not only the remaining single-gene diseases but also the multifactorial diseases that have been linked to chromosome 20, such as type 2 diabetes, obesity, cataract, eczema and Grave's disease," the researchers write in Nature.

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Deloukas, P. et al. The DNA sequence and comparative analysis of human chromosome 20. Nature 414, 865-871 (December 20/27, 2001).

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