Initial sequencing and analysis of the human genome

Initial sequencing and analysis of the human genome

15 FEBRUARY 2001 | International Human Genome Sequencing Consortium
The International Human Genome Sequencing Consortium has completed the first draft sequence of the human genome, which covers about 94% of the genome. This sequence was generated from a physical map covering more than 96% of the euchromatic part of the human genome and, together with additional sequence in public databases, it covers about 94% of the human genome. The sequence was produced over a relatively short period, with coverage rising from about 10% to more than 90% over roughly fifteen months. The sequence data have been made available without restriction and updated daily throughout the project. The task ahead is to produce a finished sequence, by closing all gaps and resolving all ambiguities. Already about one billion bases are in final form and the task of bringing the vast majority of the sequence to this standard is now straightforward and should proceed rapidly. The human genome sequence is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the first vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species. The sequence of the human genome is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the first vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species. The human genome contains about 30,000–40,000 protein-coding genes—only about twice as many as in worm or fly. However, the genes are more complex, with more alternative splicing generating a larger number of protein products. The full set of proteins (the 'proteome') encoded by the human genome is more complex than those of invertebrates. This is due in part to the presence of vertebrate-specific protein domains and motifs (an estimated 7% of the total), but more to the fact that vertebrates appear to have arranged pre-existing components into a richer collection of domain architectures. Hundreds of human genes appear likely to have resulted from horizontal transfer from bacteria at some point in the vertebrate lineage. Dozens of genes appear to have been derived from transposable elements. Although about half of the human genome derives from transposable elements, there has been a marked decline in the overall activity of such elements in the hominid lineage. DNA transposons appear to have become completely inactive and long-terminal repeat (LTR) retroposons may also have done so. The pericentromeric and subtelomeric regions of chromosomes are filled with large recent segmental duplications of sequence from elsewhere in the genome. Segmental duplication is much more frequent in humansThe International Human Genome Sequencing Consortium has completed the first draft sequence of the human genome, which covers about 94% of the genome. This sequence was generated from a physical map covering more than 96% of the euchromatic part of the human genome and, together with additional sequence in public databases, it covers about 94% of the human genome. The sequence was produced over a relatively short period, with coverage rising from about 10% to more than 90% over roughly fifteen months. The sequence data have been made available without restriction and updated daily throughout the project. The task ahead is to produce a finished sequence, by closing all gaps and resolving all ambiguities. Already about one billion bases are in final form and the task of bringing the vast majority of the sequence to this standard is now straightforward and should proceed rapidly. The human genome sequence is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the first vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species. The sequence of the human genome is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the first vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species. The human genome contains about 30,000–40,000 protein-coding genes—only about twice as many as in worm or fly. However, the genes are more complex, with more alternative splicing generating a larger number of protein products. The full set of proteins (the 'proteome') encoded by the human genome is more complex than those of invertebrates. This is due in part to the presence of vertebrate-specific protein domains and motifs (an estimated 7% of the total), but more to the fact that vertebrates appear to have arranged pre-existing components into a richer collection of domain architectures. Hundreds of human genes appear likely to have resulted from horizontal transfer from bacteria at some point in the vertebrate lineage. Dozens of genes appear to have been derived from transposable elements. Although about half of the human genome derives from transposable elements, there has been a marked decline in the overall activity of such elements in the hominid lineage. DNA transposons appear to have become completely inactive and long-terminal repeat (LTR) retroposons may also have done so. The pericentromeric and subtelomeric regions of chromosomes are filled with large recent segmental duplications of sequence from elsewhere in the genome. Segmental duplication is much more frequent in humans
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