The DNA sequence and analysis of human chromosome 6.
Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. ajm@sanger.ac.uk
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D000818:Animals; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005796:Genes / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006801:Humans; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics; D017422:Sequence Analysis, DNA
D015235:HLA-B Antigens; D012343:RNA, Transfer