October 23, 2003
Genome Network News
Scientists have published a revised sequence of human chromosome 6. They corrected most of the previous errors in the DNA sequence, annotated the genes on the chromosome, and included the latest biological research related to these genes.
The chromosome has 1,557 genes, and about half of these have no known function.
It took researchers at the Wellcome Trust Sanger Institute in the United Kingdom, eight years to complete the sequence of chromosome 6, the largest chromosome to be sequenced to date.
Chromosome 6 carries one of the most important regions in our genome for fighting disease. The region, called the major histocompatibility complex (MHC), has been linked to over 100 diseases, including many autoimmune diseases such as multiple sclerosis and type 1 diabetes.
Mutations in genes on chromosome 6 are also responsible for a form of childhood Parkinson's, epilepsy, and some cancers.
The researchers compared chromosome 6 to the genomes of five other animals: mouse, rat, zebrafish, and two species of pufferfish. They identified regions that are conserved between the different animals and therefore may contain important genes or regions that regulate genes.
“The most important thing that we've done is throw [chromosome 6] out there for public consumption,” says Andrew Mungall of Wellcome, who led the research.
Scientists are already using the DNA sequences to build better tools for screening patients for mutations on chromosome 6 associated with cancer and other diseases.
Chromosome 6 joins 7, 14, 20, 21, 22, and Y among the ranks of essentially complete and published chromosomes.
Source: Mungall, A. J. et al. The DNA sequence and analysis of human
chromosome 6. Nature 25, 805-811 ( October 23, 2003 ).
Copyright © 2003, The Center for the Advancement of Genomics (TCAG)