The complete sequence of human chromosome 5
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).
- Research Organization:
- Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
- Sponsoring Organization:
- USDOE Director. Office of Science. Office of Biological and Environmental Research Program, Lawrence Livermore National Laboratory, Stanford University (US)
- DOE Contract Number:
- AC03-76SF00098
- OSTI ID:
- 837896
- Report Number(s):
- LBNL-55264; R&D Project: LWMGGN; TRN: US200507%%428
- Journal Information:
- Nature, Vol. 431, Issue 7006; Other Information: Submitted to Nature: Volume 431, No.7006; Journal Publication Date: 09/16/2004; PBD: 15 Apr 2004
- Country of Publication:
- United States
- Language:
- English
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