Human genome

complete set of nucleic acid sequence for humans

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.

Graphical representation of the idealized human karyotype, showing the organization of the genome into chromosomes. This drawing shows both the female (XX) and male (XY) versions of the 23rd chromosome pair.

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,[1] and Science published Celera's paper.[2] 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.[3]

The latest project ENCODE studies the way the genes are controlled.[4][5]

Although the sequence of the human genome has been completely determined by DNA sequencing, it is not yet fully understood.[6] There are vast quantities of noncoding DNA within the genome. This does important things, like regulating gene expression, organization of chromosomes, and signals controlling epigenetic inheritance.

DNA and proteins change

The human genome contains just over 20,000 protein-coding genes, far fewer than had been expected.[7][8] 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.[9]

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.[10] Each mRNA codes for a different peptide chain. Therefore the number of proteins produced is far above the number of coding genes.

With RNA splicing and post-RNA translation changes, the total number of unique human proteins may be in the low millions.[11][12]

The idea that most DNA is useless 'junk' is wrong. At least 80% of the genome has definite functions.[4][5][8]

Differences between humans and chimpanzees change

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,[13] 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[13] (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.[13] 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.[14] Hence the total similarity of the genomes could be as low as about 70%.

Related pages change

References change

  1. 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.
  2. Venter J.C.; et al. (2001). "The sequence of the human genome" (PDF). Science. 291 (5507): 1304–1351. Bibcode:2001Sci...291.1304V. doi:10.1126/science.1058040. PMID 11181995. S2CID 85981305.
  3. McElheny, Victor K. 2010. Drawing the map of life: inside the Human Genome Project. New York: Basic Books.
  4. 4.0 4.1 Maher, Brendan 2012. ENCODE: The human encyclopaedia. Nature 489 (7414) 46–48. [1]
  5. 5.0 5.1 Walsh, Fergus 2012. ENCODE: The human encyclopaedia. BBC News Sci & Environment. [2]
  6. Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A and others 2022. The complete sequence of a human genome. Science 376 (6588): 44–53. [3]
  7. International Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931–45. Bibcode:2004Natur.431..931H. doi:10.1038/nature03001. PMID 15496913. S2CID 186242248. [4]
  8. 8.0 8.1 Elizabeth Pennisi (2012). "ENCODE Project writes eulogy for junk DNA". Science. 337 (6099): 1159–1160. Bibcode:2012Sci...337.1159P. doi:10.1126/science.337.6099.1159. PMID 22955811.
  9. 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. [5]
  10. 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. S2CID 13829976.
  11. 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. PMID 15695805. S2CID 16391377.
  12. 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.
  13. 13.0 13.1 13.2 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. Bibcode:2005Natur.437...69.. doi:10.1038/nature04072. PMID 16136131. S2CID 2638825.
  14. Cheng Z.; et al. (2005). "A genome-wide comparison of recent chimpanzee and human segmental duplications". Nature. 437 (1 September 2005): 88–93. Bibcode:2005Natur.437...88C. doi:10.1038/nature04000. PMID 16136132. S2CID 4420359.