The human genome is stored on 23 chromosome pairs in the cell nucleus and in the small mitochondrial DNA. A great deal is now known about the sequences of DNA which are on our chromosomes. What the DNA actually does is now partly known. Applying this knowledge in practice has only just begun.
The Human Genome Project (HGP) produced a reference sequence which is used worldwide in biology and medicine. Nature published the publicly funded project's report, and Science published Celera's paper. These papers described how the draft sequence was produced, and gave an analysis of the sequence. Improved drafts were announced in 2003 and 2005, filling in to ≈92% of the sequence.
DNA and proteinsEdit
The human genome contains just over 20,000 protein-coding genes, far fewer than had been expected. In fact, only about 1.5% of the genome codes for proteins, while the rest consists of non-coding RNA genes, regulatory sequences, and introns.
However, a single gene can produce a variety of proteins by means of RNA splicing. One particular Drosophila gene (DSCAM) can be alternatively spliced into 38,000 different mRNAs. Each mRNA codes for a different peptide chain. Therefore the number of proteins produced is far above the number of coding genes.
Differences between humans and chimpanzeesEdit
The animal that is alive now that is closest to humans is the chimpanzee. 98.4% of the DNA is the same between humans and chimpanzees. However, this applies only to single nucleotide polymorphisms, that is, changes in single base pairs only. The full picture is rather different.
The draft sequence of the common chimpanzee genome was published in 2005. It showed that the regions which are similar enough to be aligned with one another account for 2400 million of the human genome’s 3164.7 million bases, that is, 75.8% of the genome.
This 75.8% of the human genome is 1.23% different from the chimpanzee genome in single-nucleotide polymorphisms (SNPs - changes of single DNA “letters” in the genome). Another type of difference, called 'indels' (insertions/deletions) account for another ~3% difference between the alignable sequences. In addition, variation in copy number of large segments (> 20 kb) of similar DNA sequence provides a further 2.7% difference between the two species. Hence the total similarity of the genomes could be as low as about 70%.
- International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human genome" (PDF). Nature 409 (6822): 860–921. doi:10.1038/35057062. PMID 11237011. http://www.nature.com/nature/journal/v409/n6822/pdf/409860a0.pdf.
- Venter J.C. et al (2001). "The sequence of the human genome" (PDF). Science 291 (5507): 1304–1351. doi:10.1126/science.1058040. PMID 11181995. http://www.sciencemag.org/cgi/reprint/291/5507/1304.pdf.
- McElheny, Victor K. 2010. Drawing the map of life: inside the Human Genome Project. New York: Basic Books.
- Maher, Brendan 2012. ENCODE: The human encyclopaedia. Nature 489 (7414) 46–48. 
- Walsh, Fergus 2012. ENCODE: The human encyclopaedia. BBC News Sci & Environment. 
- International Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome.". Nature 431 (7011): 931–45. doi:10.1038/nature03001. PMID 15496913. 
- Elizabeth Pennisi (2012). "ENCODE Project writes eulogy for junk DNA". Science 337 (6099): 1159–1160. doi:10.1126/science.337.6099.1159.
- International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human genome". Nature 409 (6822): 860–921. doi:10.1038/35057062. PMID 11237011. 
- Schmucker D. et al (2000). "Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity". Cell 101 (6): 671–684. doi:10.1016/S0092-8674(00)80878-8. PMID 10892653.
- Mathial Uhlen and Fredrik Ponten (2005). "Antibody-based proteomics for human tissue profiling". Mollecular & Cellular Proteomics 4 (4): 384–393. doi:10.1074/mcp.R500009-MCP200.
- Ole Nørregaard Jensen (2004). "Modification-specific proteomics: characterization of post-translational modifications by mass spectrometry". Current Opinion in Chemical Biology 8 (1): 33–41. doi:10.1016/j.cbpa.2003.12.009. PMID 15036154.
- The Chimpanzee Sequencing and Analysis Consortium (2005). "Initial sequence of the chimpanzee genome and comparison with the human genome". Nature 437 (1 September 2005): 69–87. doi:10.1038/nature04072. PMID 16136131.
- Cheng Z. et al. (2005). "A genome-wide comparison of recent chimpanzee and human segmental duplications". Nature 437 (1 September 2005): 88–93. doi:10.1038/nature04000. PMID 16136132.