The DNA sequence of human chromosome 7.

Abstract

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.

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@article{Hillier2003TheDS, title={The DNA sequence of human chromosome 7.}, author={LaDeana W. Hillier and Robert S . Fulton and Lucinda A. Fulton and Tina A. Graves and Kymberlie H. Pepin and Caryn Wagner-McPherson and Dan Layman and Jason E Maas and Sara Jaeger and Rebecca Walker and Kristine M Wylie and Mandeep Sekhon and Michael C. Becker and Michelle D. O'Laughlin and Mark Schaller and Ginger A. Fewell and Kimberly D. Delehaunty and Tracie L. Miner and William E. Nash and Matt Cordes and Hui Du and Hui Sun and Jennifer M. Edwards and Holland Bradshaw-Cordum and Johar Ali and Stephanie Andrews and Amber Isak and Andrew Vanbrunt and Christine Nguyen and Feiyu Du and Betty Lamar and Laura Courtney and Joelle M. Kalicki and Philip Ozersky and Lauren Bielicki and Kelsi Scott and Andrea N. Holmes and Richard Harkins and Anthony D. Harris and Cynthia Madsen Strong and Shunfang Hou and Chad M. Tomlinson and Sara Dauphin-Kohlberg and Amy Kozlowicz-Reilly and Shawn M. Leonard and Theresa Rohlfing and Susan M. Rock and Aye-Mon Tin-Wollam and Amanda Helen Abbott and Patrick Minx and Rachel Maupin and Catrina Strowmatt and Phil Latreille and Nancy M. Miller and Doug E Milano Johnson and Jennifer B Murray and Jeffrey P. Woessner and Michael C. Wendl and Shiaw-Pyng Yang and Brian R Schultz and John W. Wallis and John Spieth and Tamberlyn Bieri and Joanne O. Nelson and Nicolas Berkowicz and Patricia E. Wohldmann and Lisa L. Cook and Matthew T. Hickenbotham and James M. Eldred and Donald Williams and Joseph A. Bedell and Elaine R. Mardis and Sandra W. Clifton and Stephanie L. Chissoe and Marco A. Marra and Christopher K Raymond and Eric Haugen and Will G. Gillett and Yang Zhou and Rose James and Karen A Phelps and Shawn Iadanoto and Kerry L. Bubb and Elizabeth Simms and Ruth Levy and James B Clendenning and Rajinder Kaul and W. James Kent and Terrence S. Furey and Robert Baertsch and Michael R. Brent and Evan Keibler and Paul Flicek and Peer Bork and Mikita Suyama and Jeffrey A. Bailey and Matthew E Portnoy and David Torrents and Asif T. Chinwalla and Warren Gish and Sean R. Eddy and John D. McPherson and Maynard V. Olson and Evan E. Eichler and Eric D. Green and Robert H. Waterston and Richard K. Wilson}, journal={Nature}, year={2003}, volume={424 6945}, pages={157-64} }