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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.
Pubmed ID: 14574404
October 23, 2003
Animals Chromosomes, Human, Pair 6 Exons Genes Genetic Diseases, Inborn HLA-B Antigens Humans Physical Chromosome Mapping Pseudogenes RNA, Transfer Sequence Analysis, DNA
Metabotropic glutamate receptor 1: Involved in metabotropic glutamate, GABA-B-like receptor activity NAD-dependent deacetylase sirtuin-5: Involved in DNA binding Solute carrier family 22 member 1: Carbohydrate transport and metabolism Vascular endothelial growth factor A: Involved in growth factor activity Proteasome subunit beta type 1: Posttranslational modification, protein turnover, chaperones Estradiol 17-beta-dehydrogenase 8: Lipid transport and metabolism Dual specificity protein kinase TTK: Involved in ATP binding Complement factor B: Involved in serine-type endopeptidase activity Monocarboxylate transporter 10: Carbohydrate transport and metabolism Valacyclovir hydrolase: Involved in hydrolase activity Colipase: Involved in enzyme activator activity Acyl-coenzyme A thioesterase 13: Secondary metabolites biosynthesis, transport and catabolism Thiopurine S-methyltransferase: Secondary metabolites biosynthesis, transport and catabolism Metabotropic glutamate receptor 4: Amino acid transport and metabolism Arginase-1: Amino acid transport and metabolism Epithelial discoidin domain-containing receptor 1: Involved in protein kinase activity Trace amine-associated receptor 1: Involved in rhodopsin-like receptor activity Tubulin beta-2B chain: Involved in structural molecule activity POU domain, class 5, transcription factor 1: Involved in protein binding Probable alanyl-tRNA synthetase, mitochondrial: Translation, ribosomal structure and biogenesis Ectonucleotide pyrophosphatase/phosphodiesterase family member 1: Involved in nucleic acid binding GDP-mannose 4,6 dehydratase: Involved in catalytic activity Valyl-tRNA synthetase: Translation, ribosomal structure and biogenesis Fatty acid-binding protein, brain: Involved in fatty acid binding Glutamate--ammonia ligase domain-containing protein 1: Amino acid transport and metabolism Triggering receptor expressed on myeloid cells 1: Involved in immune triggering activity Heat shock protein HSP 90-beta: Posttranslational modification, protein turnover, chaperones Interferon-gamma receptor alpha chain: Involved in cytokine binding Glutamate--cysteine ligase catalytic subunit: Involved in glutamate-cysteine ligase activity Acetyl-CoA acetyltransferase, cytosolic: Lipid transport and metabolism Gamma-aminobutyric acid receptor subunit rho-2: Involved in chloride channel activity Phenylalanyl-tRNA synthetase, mitochondrial: Translation, ribosomal structure and biogenesis Cannabinoid receptor 1: Involved in cannabinoid receptor activity GMP reductase 1: Nucleotide transport and metabolism Peroxisome proliferator-activated receptor delta: Involved in DNA binding Gamma-aminobutyric acid type B receptor, subunit 1: Involved in GABA-B receptor activity Guanylyl cyclase-activating protein 1: Involved in calcium ion binding 5-hydroxytryptamine 1B receptor: Involved in rhodopsin-like receptor activity Solute carrier family 22 member 7: Carbohydrate transport and metabolism 5-hydroxytryptamine 1E receptor: Involved in rhodopsin-like receptor activity Succinate semialdehyde dehydrogenase, mitochondrial: Energy production and conversion NG,NG-dimethylarginine dimethylaminohydrolase 2: Amino acid transport and metabolism Methylmalonyl-CoA mutase, mitochondrial: Lipid transport and metabolism S-adenosylmethionine decarboxylase proenzyme: Involved in adenosylmethionine decarboxylase activity Glucagon-like peptide 1 receptor: Involved in peptide receptor activity, G-protein coupled Heat shock 70 kDa protein 1: Posttranslational modification, protein turnover, chaperones Glutathione S-transferase A2: Involved in glutathione transferase activity Estrogen receptor: Involved in transcription factor activity Glutathione S-transferase A3: Involved in glutathione transferase activity Elongation of very long chain fatty acids protein 4