title: The DNA sequence and comparative analysis of human chromosome 5.
abstract: 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.
authors.affiliation: Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Ave, Palo Alto, California 94304, USA. jeremy@shgc.stanford.edu
authors.forename: Jeremy
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mesh_terms: D000818:Animals; D001482:Base Composition; D015820:Cadherins / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D020440:Gene Duplication; D005796:Genes / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D023281:Genomics; D006801:Humans; D007378:Interleukins / Q000235:genetics; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D002679:Pan troglodytes / Q000235:genetics; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA; D026801:Synteny / Q000235:genetics; D014714:Vertebrates / Q000235:genetics
chemical_list: D015820:Cadherins; D007378:Interleukins