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The complete sequence of human chromosome 5 (2004)

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).

Publication details
Download http://repositories.cdlib.org/lbnl/LBNL-55264
Publisher eScholarship Repository, Lawrence Berkeley National Laboratory, University of California, University of California
Repository University of California eScholarship Repository (United States)
Keywords Applied life sciences
Type text

Publications citing this publication (1)
Mapping cis-Regulatory Domains in the Human Genome Using Multi-Species Conservation of Synteny (2005)

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