Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
LaDeana Hillier, Lucinda Fulton, Robert Fulton, Tina Graves-Lindsay, Kristine Wylie, Ph.D., Michelle O'Laughlin, Tracie Miner Deluca, William Nash, Matthew Cordes, Aaron P Graubert, Feiyu Du, Laura Courtney, Joelle Veizer, Kelsi Rotter, Chad Tomlinson, Sara Kohlberg, Amy Reily, Shawn Leonard, Aye Wollam, Patrick Minx, Catrina Fronick, Michael Wendl, Ph.D., Joanne Nelson, Lisa Cook, Jim Eldred, Elaine R. Mardis, Ph.D., Richard K. Wilson, Ph.D.