There are more harmful than beneficial mutations but this isn't a problem for evolution because natural selection removes harmful mutations and preserves beneficial mutations meaning that evolution is not a 'downward spiral'.soysauce said:mutations are more harmful then productive. since that is a fact, evolution should be a downward spiral because of mutation.
Here are a few examples of beenficial mutations i have posted previously:
Interesting examples of beneficial mutations are those altering visual pigments. For example ultraviolet pigments in birds evolved from violet pigments by a single amino acid substituition (1) and independantly in 9 other lineages by various mutations (2). Natural selection has also acted to fix useful variants of the visual pigment rhodopsin in Lake Victoria cichlids (3,4).
Other examples of beneficial mutations include those that give rise to new genes, a well studies example is the SDIC gene is Drosophila melanogaster. This genes was formed by a duplication of two genes (a mutation) and then deletions fused them together to form a new gene (mutations) and then further mutations led to the gene we see today (5). This gene was then fixed in the population by natural selection (6) proving its beneficial nature.
Another example of a new gene is antifreeze gene in Antarctic fish, this genes was formed by duplication and then further mutation of a trypsinogen gene (7). Positive Darwinian selection has also been found to act on antifreeze proteins (8).
One of the best ways to detect positive mutations is to look for the signature that natural selection leaves in the genome as it acts to fix beneficial mutations in the population, this process is referred to as positive selection. Natural selection for favourable mutations has been found in many genes in the human genome (9) including many brain/neural related genes and developmental genes. An interesting example is the lactase gene in people of northern European origin that allows milk to be digested properly in adulthood which is an allele of recent origin that has been naturally selected for (10) and g6pd a gene involved in malaria resistance (11). It is also ubiquitus in immune system genes (12) and fertilisation related genes (13). Natural selection has also been found to act on many different beneficial mutations in many species other than humans (14).
Some more beneficial mutations fixed by positive Darwinian selection:
Glycoconj J. 2002 Aug-Sep;19(7-9):451-8. The speciation of conger eel galectins by rapid adaptive evolution. Ogawa T, Shirai T, Shionyu-Mitsuyama C, Yamane T, Kamiya H, Muramoto K.
Mol Biol Evol. 2004 Jan 22 Rapid Evolution of a Pollen-Specific Oleosin-Like Gene Family from Arabidopsis Thaliana and Closely Related Species. Schein M, Yang Z, Mitchell-Olds T, Schmid KJ.
J Mol Evol. 2004 Jan;58(1):54-63. Likelihood analysis of the chalcone synthase genes suggests the role of positive selection in morning glories (Ipomoea). Yang J, Gu H, Yang Z.
Hum Mol Genet. 2004 Jan 13 Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Evans PD, Anderson JR, Vallender EJ, Gilbert SL, Malcom CM, Dorus S, Lahn BT.
particularly important as it shows that mutations giving rise to human specific features such as large brain size were fixed in the human species by natural selection. see also:
Nature. 2002 Aug 22;418(6900):869-72. Epub 2002 Aug 14. Molecular evolution of FOXP2, a gene involved in speech and language. Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, Kitano T, Monaco AP, Paabo S.
(1) Proc Natl Acad Sci U S A. 2000 Jun 20;97(13):7366-71.Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change. Yokoyama S, Radlwimmer FB, Blow NS.
(2) Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8308-13. Epub 2003 Jun 24. Molecular analysis of the evolutionary significance of ultraviolet vision in vertebrates.Shi Y, Yokoyama S.
(3) Mol Biol Evol. 2002 Oct;19(10):1807-11. Natural selection of the rhodopsin gene during the adaptive radiation of East African Great Lakes cichlid fishes. Sugawara T, Terai Y, Okada N.
(4) Terai Y, Mayer WE, Klein J, Tichy H, Okada N. The effect of selection on a long wavelength-sensitive (LWS) opsin gene of Lake Victoria cichlid fishes. Proc Natl Acad Sci U S A. 2002 Nov 26;99,24,:15501-6. Epub 2002 Nov 15.
(5) Genetica. 2003 Jul;118(2-3):233-44. Origin and evolution of a new gene expressed in the Drosophila sperm axoneme. Ranz JM, Ponce AR, Hartl DL, Nurminsky D.
(6) Science. 2001 Jan 5;291(5501):128-30. Chromosomal effects of rapid gene evolution in Drosophila melanogaster. Nurminsky D, Aguiar DD, Bustamante CD, Hartl DL.
(7) Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):3811-6.Evolution of antifreeze glycoprotein gene from a trypsinogen gene in Antarctic notothenioid fish. Chen L, DeVries AL, Cheng CH.
(8) J Mol Evol. 2002 Mar;54(3):403-10. Positive darwinian selection promotes heterogeneity among members of the antifreeze protein multigene family. Swanson WJ, Aquadro CF.
(9) Karl C. Diller, William A. Gilbert, and Thomas D. Kocher. Selective Sweeps in the Human Genome: A Starting Point for Identifying Genetic Differences Between Modern Humans and Chimpanzees. Mol. Biol. Evol. 19(12):23422345. 2002.
(10) Am J Hum Genet. 2001 Jan;68(1):160-172. Epub 2000 Nov 28. Lactase haplotype diversity in the Old World. Hollox EJ, Poulter M, Zvarik M, Ferak V, Krause A, Jenkins T, Saha N, Kozlov AI, Swallow DM.(11) Genetics. 2002 Dec;162(4):1849-61. Nucleotide variability at G6pd and the signature of malarial selection in humans. Saunders MA, Hammer MF, Nachman MW.
(12) J Evol Biol. 2003 May;16(3):363-77. MHC studies in nonmodel vertebrates: what have we learned about natural selection in 15 years? Bernatchez L, Landry C.
(13) Nat Rev Genet. 2002 Feb;3(2):137-44. The rapid evolution of reproductive proteins. Swanson WJ, Vacquier VD.
(13) Nat Rev Genet. 2002 Feb;3(2):137-44. The rapid evolution of reproductive proteins. Swanson WJ, Vacquier VD.
(14) Ford MJ. Applications of selective neutrality tests to molecular ecology. Mol Ecol. 2002 Aug;11(8):1245-62. Review.A
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