Skip to main content
eScholarship
Open Access Publications from the University of California

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).

Main Content
Current View