The DNA sequence of human chromosome 7
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 9...
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| Veröffentlicht in: | Nature (London) 2003-07, Vol.424 (6945), p.157-164 |
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| creator | Hillier, LaDeana W. Fulton, Robert S. Fulton, Lucinda A. Graves, Tina A. Pepin, Kymberlie H. Wagner-McPherson, Caryn Layman, Dan Maas, Jason Jaeger, Sara Walker, Rebecca Wylie, Kristine Sekhon, Mandeep Becker, Michael C. O'Laughlin, Michelle D. Schaller, Mark E. Fewell, Ginger A. Miner, Tracie L. Nash, William E. Cordes, Matt Edwards, Jennifer Bradshaw-Cordum, Holland Ali, Johar Andrews, Stephanie Isak, Amber VanBrunt, Andrew Nguyen, Christine Du, Feiyu Lamar, Betty Courtney, Laura Kalicki, Joelle Ozersky, Philip Bielicki, Lauren Scott, Kelsi Holmes, Andrea Harkins, Richard Harris, Anthony Strong, Cynthia Madsen Hou, Shunfang Tomlinson, Chad Dauphin-Kohlberg, Sara Kozlowicz-Reilly, Amy Leonard, Shawn Rohlfing, Theresa Rock, Susan M. Tin-Wollam, Aye-Mon Abbott, Amanda Minx, Patrick Maupin, Rachel Strowmatt, Catrina Latreille, Phil Miller, Nancy Johnson, Doug Murray, Jennifer Woessner, Jeffrey P. Wendl, Michael C. Yang, Shiaw-Pyng Schultz, Brian R. Wallis, John W. Bieri, Tamberlyn A. Nelson, Joanne O. Berkowicz, Nicolas Wohldmann, Patricia E. Cook, Lisa L. Hickenbotham, Matthew T. Eldred, James Williams, Donald Bedell, Joseph A. Mardis, Elaine R. Clifton, Sandra W. Marra, Marco A. Raymond, Christopher Haugen, Eric Gillett, Will Zhou, Yang James, Rose Phelps, Karen Iadanoto, Shawn Bubb, Kerry Simms, Elizabeth Levy, Ruth Clendenning, James Kaul, Rajinder Furey, Terrence S. Baertsch, Robert A. Brent, Michael R. Keibler, Evan Flicek, Paul Bork, Peer Suyama, Mikita Bailey, Jeffrey A. Portnoy, Matthew E. Torrents, David Chinwalla, Asif T. Gish, Warren R. Eddy, Sean R. McPherson, John D. Eichler, Evan E. Green, Eric D. Waterston, Robert H. Wilson, Richard K. |
| description | 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. |
| doi_str_mv | 10.1038/nature01782 |
| format | Article |
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Fulton, Robert S. ; Fulton, Lucinda A. ; Graves, Tina A. ; Pepin, Kymberlie H. ; Wagner-McPherson, Caryn ; Layman, Dan ; Maas, Jason ; Jaeger, Sara ; Walker, Rebecca ; Wylie, Kristine ; Sekhon, Mandeep ; Becker, Michael C. ; O'Laughlin, Michelle D. ; Schaller, Mark E. ; Fewell, Ginger A. ; Miner, Tracie L. ; Nash, William E. ; Cordes, Matt ; Edwards, Jennifer ; Bradshaw-Cordum, Holland ; Ali, Johar ; Andrews, Stephanie ; Isak, Amber ; VanBrunt, Andrew ; Nguyen, Christine ; Du, Feiyu ; Lamar, Betty ; Courtney, Laura ; Kalicki, Joelle ; Ozersky, Philip ; Bielicki, Lauren ; Scott, Kelsi ; Holmes, Andrea ; Harkins, Richard ; Harris, Anthony ; Strong, Cynthia Madsen ; Hou, Shunfang ; Tomlinson, Chad ; Dauphin-Kohlberg, Sara ; Kozlowicz-Reilly, Amy ; Leonard, Shawn ; Rohlfing, Theresa ; Rock, Susan M. ; Tin-Wollam, Aye-Mon ; Abbott, Amanda ; Minx, Patrick ; Maupin, Rachel ; Strowmatt, Catrina ; Latreille, Phil ; Miller, Nancy ; Johnson, Doug ; Murray, Jennifer ; Woessner, Jeffrey P. ; Wendl, Michael C. ; Yang, Shiaw-Pyng ; Schultz, Brian R. ; Wallis, John W. ; Bieri, Tamberlyn A. ; Nelson, Joanne O. ; Berkowicz, Nicolas ; Wohldmann, Patricia E. ; Cook, Lisa L. ; Hickenbotham, Matthew T. ; Eldred, James ; Williams, Donald ; Bedell, Joseph A. ; Mardis, Elaine R. ; Clifton, Sandra W. ; Marra, Marco A. ; Raymond, Christopher ; Haugen, Eric ; Gillett, Will ; Zhou, Yang ; James, Rose ; Phelps, Karen ; Iadanoto, Shawn ; Bubb, Kerry ; Simms, Elizabeth ; Levy, Ruth ; Clendenning, James ; Kaul, Rajinder ; Furey, Terrence S. ; Baertsch, Robert A. ; Brent, Michael R. ; Keibler, Evan ; Flicek, Paul ; Bork, Peer ; Suyama, Mikita ; Bailey, Jeffrey A. ; Portnoy, Matthew E. ; Torrents, David ; Chinwalla, Asif T. ; Gish, Warren R. ; Eddy, Sean R. ; McPherson, John D. ; Eichler, Evan E. ; Green, Eric D. ; Waterston, Robert H. ; Wilson, Richard K.</creator><creatorcontrib>Hillier, LaDeana W. ; Fulton, Robert S. ; Fulton, Lucinda A. ; Graves, Tina A. ; Pepin, Kymberlie H. ; Wagner-McPherson, Caryn ; Layman, Dan ; Maas, Jason ; Jaeger, Sara ; Walker, Rebecca ; Wylie, Kristine ; Sekhon, Mandeep ; Becker, Michael C. ; O'Laughlin, Michelle D. ; Schaller, Mark E. ; Fewell, Ginger A. ; Miner, Tracie L. ; Nash, William E. ; Cordes, Matt ; Edwards, Jennifer ; Bradshaw-Cordum, Holland ; Ali, Johar ; Andrews, Stephanie ; Isak, Amber ; VanBrunt, Andrew ; Nguyen, Christine ; Du, Feiyu ; Lamar, Betty ; Courtney, Laura ; Kalicki, Joelle ; Ozersky, Philip ; Bielicki, Lauren ; Scott, Kelsi ; Holmes, Andrea ; Harkins, Richard ; Harris, Anthony ; Strong, Cynthia Madsen ; Hou, Shunfang ; Tomlinson, Chad ; Dauphin-Kohlberg, Sara ; Kozlowicz-Reilly, Amy ; Leonard, Shawn ; Rohlfing, Theresa ; Rock, Susan M. ; Tin-Wollam, Aye-Mon ; Abbott, Amanda ; Minx, Patrick ; Maupin, Rachel ; Strowmatt, Catrina ; Latreille, Phil ; Miller, Nancy ; Johnson, Doug ; Murray, Jennifer ; Woessner, Jeffrey P. ; Wendl, Michael C. ; Yang, Shiaw-Pyng ; Schultz, Brian R. ; Wallis, John W. ; Bieri, Tamberlyn A. ; Nelson, Joanne O. ; Berkowicz, Nicolas ; Wohldmann, Patricia E. ; Cook, Lisa L. ; Hickenbotham, Matthew T. ; Eldred, James ; Williams, Donald ; Bedell, Joseph A. ; Mardis, Elaine R. ; Clifton, Sandra W. ; Marra, Marco A. ; Raymond, Christopher ; Haugen, Eric ; Gillett, Will ; Zhou, Yang ; James, Rose ; Phelps, Karen ; Iadanoto, Shawn ; Bubb, Kerry ; Simms, Elizabeth ; Levy, Ruth ; Clendenning, James ; Kaul, Rajinder ; Furey, Terrence S. ; Baertsch, Robert A. ; Brent, Michael R. ; Keibler, Evan ; Flicek, Paul ; Bork, Peer ; Suyama, Mikita ; Bailey, Jeffrey A. ; Portnoy, Matthew E. ; Torrents, David ; Chinwalla, Asif T. ; Gish, Warren R. ; Eddy, Sean R. ; McPherson, John D. ; Eichler, Evan E. ; Green, Eric D. ; Waterston, Robert H. ; Wilson, Richard K.</creatorcontrib><description>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.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>DOI: 10.1038/nature01782</identifier><identifier>PMID: 12853948</identifier><identifier>CODEN: NATUAS</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Animals ; Base Sequence ; Biological and medical sciences ; Chromosomes, Human, Pair 7 ; Deoxyribonucleic acid ; DNA ; Fundamental and applied biological sciences. Psychology ; Gene Duplication ; Genetics ; Genomics ; Humanities and Social Sciences ; Humans ; Mice ; Molecular and cellular biology ; Molecular Sequence Data ; multidisciplinary ; Physical Chromosome Mapping ; Proteins - genetics ; Pseudogenes ; RNA, Untranslated ; Science ; Science (multidisciplinary) ; Sequence Analysis, DNA ; Species Specificity ; Williams Syndrome - genetics</subject><ispartof>Nature (London), 2003-07, Vol.424 (6945), p.157-164</ispartof><rights>Macmillan Magazines Ltd. 2003</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 Nature Publishing Group</rights><rights>Copyright Macmillan Journals Ltd. 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H.</creatorcontrib><creatorcontrib>Wilson, Richard K.</creatorcontrib><title>The DNA sequence of human chromosome 7</title><title>Nature (London)</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>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.</description><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Duplication</subject><subject>Genetics</subject><subject>Genomics</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Mice</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>multidisciplinary</subject><subject>Physical Chromosome Mapping</subject><subject>Proteins - genetics</subject><subject>Pseudogenes</subject><subject>RNA, Untranslated</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>Sequence Analysis, DNA</subject><subject>Species Specificity</subject><subject>Williams Syndrome - 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DNA sequence of human chromosome 7</title><author>Hillier, LaDeana W. ; Fulton, Robert S. ; Fulton, Lucinda A. ; Graves, Tina A. ; Pepin, Kymberlie H. ; Wagner-McPherson, Caryn ; Layman, Dan ; Maas, Jason ; Jaeger, Sara ; Walker, Rebecca ; Wylie, Kristine ; Sekhon, Mandeep ; Becker, Michael C. ; O'Laughlin, Michelle D. ; Schaller, Mark E. ; Fewell, Ginger A. ; Miner, Tracie L. ; Nash, William E. ; Cordes, Matt ; Edwards, Jennifer ; Bradshaw-Cordum, Holland ; Ali, Johar ; Andrews, Stephanie ; Isak, Amber ; VanBrunt, Andrew ; Nguyen, Christine ; Du, Feiyu ; Lamar, Betty ; Courtney, Laura ; Kalicki, Joelle ; Ozersky, Philip ; Bielicki, Lauren ; Scott, Kelsi ; Holmes, Andrea ; Harkins, Richard ; Harris, Anthony ; Strong, Cynthia Madsen ; Hou, Shunfang ; Tomlinson, Chad ; Dauphin-Kohlberg, Sara ; Kozlowicz-Reilly, Amy ; Leonard, Shawn ; Rohlfing, Theresa ; Rock, Susan M. ; Tin-Wollam, Aye-Mon ; Abbott, Amanda ; Minx, Patrick ; Maupin, Rachel ; Strowmatt, Catrina ; Latreille, Phil ; Miller, Nancy ; Johnson, Doug ; Murray, Jennifer ; Woessner, Jeffrey P. ; Wendl, Michael C. ; Yang, Shiaw-Pyng ; Schultz, Brian R. ; Wallis, John W. ; Bieri, Tamberlyn A. ; Nelson, Joanne O. ; Berkowicz, Nicolas ; Wohldmann, Patricia E. ; Cook, Lisa L. ; Hickenbotham, Matthew T. ; Eldred, James ; Williams, Donald ; Bedell, Joseph A. ; Mardis, Elaine R. ; Clifton, Sandra W. ; Marra, Marco A. ; Raymond, Christopher ; Haugen, Eric ; Gillett, Will ; Zhou, Yang ; James, Rose ; Phelps, Karen ; Iadanoto, Shawn ; Bubb, Kerry ; Simms, Elizabeth ; Levy, Ruth ; Clendenning, James ; Kaul, Rajinder ; Furey, Terrence S. ; Baertsch, Robert A. ; Brent, Michael R. ; Keibler, Evan ; Flicek, Paul ; Bork, Peer ; Suyama, Mikita ; Bailey, Jeffrey A. ; Portnoy, Matthew E. ; Torrents, David ; Chinwalla, Asif T. ; Gish, Warren R. ; Eddy, Sean R. ; McPherson, John D. ; Eichler, Evan E. ; Green, Eric D. ; Waterston, Robert H. ; Wilson, Richard K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c690t-ea0910eb72d57e89ef20de92cd21a4e06462729c7f2d9089017f5a02184834813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Duplication</topic><topic>Genetics</topic><topic>Genomics</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Mice</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>multidisciplinary</topic><topic>Physical Chromosome Mapping</topic><topic>Proteins - genetics</topic><topic>Pseudogenes</topic><topic>RNA, Untranslated</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><topic>Sequence Analysis, DNA</topic><topic>Species Specificity</topic><topic>Williams Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hillier, LaDeana W.</creatorcontrib><creatorcontrib>Fulton, Robert S.</creatorcontrib><creatorcontrib>Fulton, Lucinda A.</creatorcontrib><creatorcontrib>Graves, Tina A.</creatorcontrib><creatorcontrib>Pepin, Kymberlie H.</creatorcontrib><creatorcontrib>Wagner-McPherson, 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and Information Systems Abstracts Professional</collection><jtitle>Nature (London)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hillier, LaDeana W.</au><au>Fulton, Robert S.</au><au>Fulton, Lucinda A.</au><au>Graves, Tina A.</au><au>Pepin, Kymberlie H.</au><au>Wagner-McPherson, Caryn</au><au>Layman, Dan</au><au>Maas, Jason</au><au>Jaeger, Sara</au><au>Walker, Rebecca</au><au>Wylie, Kristine</au><au>Sekhon, Mandeep</au><au>Becker, Michael C.</au><au>O'Laughlin, Michelle D.</au><au>Schaller, Mark E.</au><au>Fewell, Ginger A.</au><au>Miner, Tracie L.</au><au>Nash, William E.</au><au>Cordes, Matt</au><au>Edwards, Jennifer</au><au>Bradshaw-Cordum, Holland</au><au>Ali, Johar</au><au>Andrews, Stephanie</au><au>Isak, Amber</au><au>VanBrunt, Andrew</au><au>Nguyen, Christine</au><au>Du, Feiyu</au><au>Lamar, Betty</au><au>Courtney, Laura</au><au>Kalicki, Joelle</au><au>Ozersky, Philip</au><au>Bielicki, Lauren</au><au>Scott, Kelsi</au><au>Holmes, Andrea</au><au>Harkins, Richard</au><au>Harris, Anthony</au><au>Strong, Cynthia Madsen</au><au>Hou, Shunfang</au><au>Tomlinson, Chad</au><au>Dauphin-Kohlberg, Sara</au><au>Kozlowicz-Reilly, Amy</au><au>Leonard, Shawn</au><au>Rohlfing, Theresa</au><au>Rock, Susan M.</au><au>Tin-Wollam, Aye-Mon</au><au>Abbott, Amanda</au><au>Minx, Patrick</au><au>Maupin, Rachel</au><au>Strowmatt, Catrina</au><au>Latreille, Phil</au><au>Miller, Nancy</au><au>Johnson, Doug</au><au>Murray, Jennifer</au><au>Woessner, Jeffrey P.</au><au>Wendl, Michael C.</au><au>Yang, Shiaw-Pyng</au><au>Schultz, Brian R.</au><au>Wallis, John W.</au><au>Bieri, Tamberlyn A.</au><au>Nelson, Joanne O.</au><au>Berkowicz, Nicolas</au><au>Wohldmann, Patricia E.</au><au>Cook, Lisa L.</au><au>Hickenbotham, Matthew T.</au><au>Eldred, James</au><au>Williams, Donald</au><au>Bedell, Joseph A.</au><au>Mardis, Elaine R.</au><au>Clifton, Sandra W.</au><au>Marra, Marco A.</au><au>Raymond, Christopher</au><au>Haugen, Eric</au><au>Gillett, Will</au><au>Zhou, Yang</au><au>James, Rose</au><au>Phelps, Karen</au><au>Iadanoto, Shawn</au><au>Bubb, Kerry</au><au>Simms, Elizabeth</au><au>Levy, Ruth</au><au>Clendenning, James</au><au>Kaul, Rajinder</au><au>Furey, Terrence S.</au><au>Baertsch, Robert A.</au><au>Brent, Michael R.</au><au>Keibler, Evan</au><au>Flicek, Paul</au><au>Bork, Peer</au><au>Suyama, Mikita</au><au>Bailey, Jeffrey A.</au><au>Portnoy, Matthew E.</au><au>Torrents, David</au><au>Chinwalla, Asif T.</au><au>Gish, Warren R.</au><au>Eddy, Sean R.</au><au>McPherson, John D.</au><au>Eichler, Evan E.</au><au>Green, Eric D.</au><au>Waterston, Robert H.</au><au>Wilson, Richard K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The DNA sequence of human chromosome 7</atitle><jtitle>Nature (London)</jtitle><stitle>Nature</stitle><addtitle>Nature</addtitle><date>2003-07-10</date><risdate>2003</risdate><volume>424</volume><issue>6945</issue><spage>157</spage><epage>164</epage><pages>157-164</pages><issn>0028-0836</issn><eissn>1476-4687</eissn><coden>NATUAS</coden><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.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>12853948</pmid><doi>10.1038/nature01782</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-0836 |
| ispartof | Nature (London), 2003-07, Vol.424 (6945), p.157-164 |
| issn | 0028-0836 1476-4687 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_743510361 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Animals Base Sequence Biological and medical sciences Chromosomes, Human, Pair 7 Deoxyribonucleic acid DNA Fundamental and applied biological sciences. Psychology Gene Duplication Genetics Genomics Humanities and Social Sciences Humans Mice Molecular and cellular biology Molecular Sequence Data multidisciplinary Physical Chromosome Mapping Proteins - genetics Pseudogenes RNA, Untranslated Science Science (multidisciplinary) Sequence Analysis, DNA Species Specificity Williams Syndrome - genetics |
| title | The DNA sequence of human chromosome 7 |
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