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The complete sequence of human chromosome 5

  • Author(s): Schmutz, Jeremy;
  • Martin, Joel;
  • Terry, Astrid;
  • Couronne, Olivier;
  • Grimwood, Jane;
  • Lowry, State;
  • 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, Chris;
  • Escobar, Julio;
  • Flowers, Dave;
  • Fotopulos, Dea;
  • Glavina, Tijana;
  • Gomez, Maria;
  • Gonzales, Eidelyn;
  • Goodstenin, David;
  • Grigoriev, Igor;
  • Groza, Matthew;
  • Hammon, Nancy;
  • Hawkins, Trevor;
  • Haydu, Lauren;
  • Israni, Sanjay;
  • Jett, Jamie;
  • Kadner, Kristen;
  • Kimbal, 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;
  • Rash, Sam;
  • 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.
  • et al.
Abstract

Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-encoding genes including the protocadherin and interleukin gene families and the first complete versions of each of the large chromosome 5 specific internal duplications. These duplications are very recent evolutionary events and play a likely mechanistic role, since deletions of these regions are the cause of debilitating disorders including spinal muscular atrophy (SMA).

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