A detailed analysis of chromosomes 2 and 4 has detected the largest gene deserts known in the human genome and uncovered more evidence that human chromosome 2 arose from the fusion of two ancestral ape chromosomes, researchers supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), reported today.
In a study published in the April 7 issue of the journal Nature, a multi-institution team, led by Washington University School of Medicine in St Louis, described its analysis of the high quality, reference sequence of chromosomes 2 and 4. The sequencing work on the chromosomes was carried out as part of the Human Genome Project at Washington University; Broad Institute of MIT, Cambridge, Mass.; Stanford DNA Sequencing and Technology Development Center, Stanford, Calif.; Wellcome Trust Sanger Institute, Hinxton, England; National Yang-Ming University, Taipei, Taiwan; Genoscope, Evry, France; Baylor College of Medicine, Houston; University of Washington Multimegabase Sequencing Center, Seattle; U.S. Department of Energy (DOE) Joint Genome Institute, Walnut Creek, Calif.; and Roswell Park Cancer Institute, Buffalo, N.Y.
Chromosome 4 has long been of interest to the medical community because it holds the gene for Huntingtons disease, polycystic kidney disease, a form of muscular dystrophy and a variety of other inherited disorders. Chromosome 2 is noteworthy for being the second largest human chromosome, trailing only chromosome 1 in size. It is also home to the gene with the longest known, protein-coding sequence a 280,000 base pair gene that codes for a muscle protein, called titin, which is 33,000 amino acids long.
The sequence of chromosomes 2 and 4, as well as the rest of the human genome sequence, can be accessed through the following public databases: GenBank (www.ncbi.nih.gov/Genbank) at NIH's National Center for Biotechnology Information (NCBI); the UCSC Genome Browser (www.genome.ucsc.edu) at the University of California at Santa Cruz; the Ensembl Genome Browser (www.ensembl.org) at the Wellcome Trust Sanger Institute and the EMBL-European Bioinformatics Institute; the DNA Data Bank of Japan (www.ddbj.nig.ac.jp)/; and EMBL-Bank (www.ebi.ac.uk/embl/index.html) at EMBLs Nucleotide Sequence Database.
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