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DOI 10.1038/nature02919

Медицинская библиотека · Nature · 2004

The DNA sequence and comparative analysis of human chromosome 5.

Schmutz Jeremy, Martin Joel, Terry Astrid, Couronne Olivier, Grimwood Jane, Lowry Steve, Gordon Laurie A, Scott Duncan, Xie Gary, Huang Wayne, Hellsten Uffe, Tran-Gyamfi Mary, She Xinwei, Prabhakar Shyam, Aerts Andrea, Altherr Michael, Bajorek Eva, Black Stacey, Branscomb Elbert, Caoile Chenier, Challacombe Jean F, Chan Yee Man, Denys Mirian, Detter John C, Escobar Julio, Flowers Dave, Fotopulos Dea, Glavina Tijana, Gomez Maria, Gonzales Eidelyn, Goodstein David, Grigoriev Igor, Groza Matthew, Hammon Nancy, Hawkins Trevor, Haydu Lauren, Israni Sanjay, Jett Jamie, Kadner Kristen, Kimball Heather, Kobayashi Arthur, Lopez Frederick, Lou Yunian, Martinez Diego, Medina Catherine, Morgan Jenna, Nandkeshwar Richard, Noonan James P, Pitluck Sam, Pollard Martin, Predki Paul, Priest James, Ramirez Lucia, Retterer James, Rodriguez Alex, Rogers Stephanie, Salamov Asaf, Salazar Angelica, Thayer Nina, Tice Hope, Tsai Ming, Ustaszewska Anna, Vo Nu, Wheeler Jeremy, Wu Kevin, Yang Joan, Dickson Mark, Cheng Jan-Fang, Eichler Evan E, Olsen Anne, Pennacchio Len A, Rokhsar Daniel S, Richardson Paul, Lucas Susan M, Myers Richard M, Rubin Edward M

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Аннотация

Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.

Для цитирования: Schmutz Jeremy, Martin Joel, Terry Astrid, Couronne Olivier, Grimwood Jane, Lowry Steve, Gordon Laurie A, Scott Duncan, Xie Gary, Huang Wayne, Hellsten Uffe, Tran-Gyamfi Mary, She Xinwei, Prabhakar Shyam, Aerts Andrea, Altherr Michael, Bajorek Eva, Black Stacey, Branscomb Elbert, Caoile Chenier, Challacombe Jean F, Chan Yee Man, Denys Mirian, Detter John C, Escobar Julio, Flowers Dave, Fotopulos Dea, Glavina Tijana, Gomez Maria, Gonzales Eidelyn, Goodstein David, Grigoriev Igor, Groza Matthew, Hammon Nancy, Hawkins Trevor, Haydu Lauren, Israni Sanjay, Jett Jamie, Kadner Kristen, Kimball Heather, Kobayashi Arthur, Lopez Frederick, Lou Yunian, Martinez Diego, Medina Catherine, Morgan Jenna, Nandkeshwar Richard, Noonan James P, Pitluck Sam, Pollard Martin, Predki Paul, Priest James, Ramirez Lucia, Retterer James, Rodriguez Alex, Rogers Stephanie, Salamov Asaf, Salazar Angelica, Thayer Nina, Tice Hope, Tsai Ming, Ustaszewska Anna, Vo Nu, Wheeler Jeremy, Wu Kevin, Yang Joan, Dickson Mark, Cheng Jan-Fang, Eichler Evan E, Olsen Anne, Pennacchio Len A, Rokhsar Daniel S, Richardson Paul, Lucas Susan M, Myers Richard M, Rubin Edward M. The DNA sequence and comparative analysis of human chromosome 5.. Nature. 2004. DOI: 10.1038/nature02919.

Предметные рубрики MeSH

AnimalsBase CompositionCadherinsChromosomes, Human, Pair 5Conserved SequenceGene DuplicationGenesGenetic Diseases, InbornGenomicsHumansInterleukinsMolecular Sequence DataMuscular Atrophy, SpinalPan troglodytesPhysical Chromosome MappingPseudogenesSequence Analysis, DNASyntenyVertebrates
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