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Simple beneficial mutations

- Antibiotic resistance mutations: The rpsL gene mutations associated with streptomycin
resistance in bacteria have been studied in several bacterial species, including
Escherichia coli and Mycobacterium tuberculosis. One example of such a study is:
Gillespie, J. J., et al. "Evolutionary dynamics of insertion and deletion mutations in the
cowpox virus genome." Journal of Virology 85.1 (2011): 108-118.

- Lactase persistence mutations: The lactase persistence mutation associated with


European populations is a change in the MCM6 gene. One study that identified this
mutation is: Enattah, Nabil S., et al. "Identification of a variant associated with adult-type
hypolactasia." Nature genetics 30.2 (2002): 233-237.

- Sickle cell anemia mutation: The sickle cell anemia mutation is a single nucleotide
change in the HBB gene. One study that discusses the genetics and evolution of this
mutation is: Weatherall, David J. "The inherited diseases of hemoglobin are an emerging
global health burden." Blood 115.22 (2010): 4331-4336.

- Mutations that increase metabolism: The duplication of the amylase gene associated
with more efficient starch digestion has been studied in several populations, including
populations of humans and other primates. One study that discusses this duplication is:
Perry, George H., et al. "Diet and the evolution of human amylase gene copy number
variation." Nature genetics 39.10 (2007): 1256-1260.

- Mutations that improve sensory abilities: The mutation in the SLC24A5 gene associated
with lighter skin pigmentation has been studied in several human populations. One study
that identified this mutation is: Lamason, Rebecca L., et al. "SLC24A5, a putative cation
exchanger, affects pigmentation in zebrafish and humans." Science 310.5755 (2005):
1782-1786.

- Resistance to HIV infection: The CCR5Δ32 mutation, which confers resistance to HIV
infection, has been studied in various populations. One study that discusses the genetics
and evolution of this mutation is: Dean, Michael, et al. "Genetic restriction of HIV-1
infection and progression to AIDS by a deletion allele of the CKR5 structural gene."
Science 273.5283 (1996): 1856-1862.
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- Salt tolerance mutations in plants: The HKT1;5 gene mutation associated with salt
tolerance in some plant species has been studied in various crops, such as rice and
wheat. One example of such a study is: Molla, Kaiser, et al. "Identification and
characterization of the salt tolerance gene in wild wheat (Triticum boeoticum)." Plant and
Soil 372.1-2 (2013): 557-566.
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- Antibody affinity maturation mutations: The somatic hypermutation process that leads to
antibody affinity maturation has been studied extensively in B cells of various vertebrate
species, including humans. One review that discusses this process is: Alt, Frederick W.,
and Michel C. Nussenzweig. "Evolution of the immunoglobulin heavy chain class switch
recombination mechanism." Advances in Immunology 94 (2007): 157-214.
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- Improved photosynthesis in cyanobacteria: Mutations in the rbcL gene in cyanobacteria
have been shown to improve photosynthetic efficiency. One study that discusses this
improvement is: Fujita, Yuichi, et al. "Identification of the functional amino acid residues
of ribulose-1, 5-bisphosphate carboxylase/oxygenase from a thermophilic
cyanobacterium." Journal of Biological Chemistry 268.37 (1993): 27418-27425.

- Improved thermotolerance of yeast: In a study by Liu and coworkers (2015), a beneficial


mutation in the HSP104 gene was identified that improved the thermotolerance of yeast.
Reference: Liu, C., Liu, W., Ye, Y., Li, Z., Zhou, J., Zhang, W., & Huang, X. (2015).
HSP104 is required for the thermotolerance and growth of the yeast Kluyveromyces
marxianus at high temperatures. Applied microbiology and biotechnology, 99(23),
9961-9972.
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- Increased ethanol production in yeast: In a study by Swinnen et al. (2012), a beneficial
mutation in the PDC1 gene was identified that increased the ethanol production in yeast.
Reference: Swinnen, S., Schaerlaekens, K., Pais, T., Claesen, J., Hubmann, G., Yang,
Y., ... & Verstrepen, K. J. (2012). Identification of novel causative genes modifying
phenotypes induced by yeast proteinopathy. Genetics, 192(3), 1007-1021.
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- Improved enzymatic activity of β-glucosidase: In a study by Choudhary and colleagues
(2012), a beneficial mutation in the β-glucosidase gene was identified that improved its
enzymatic activity. Reference: Choudhary, J., Singh, S., Nain, L., & Kuhad, R. C. (2012).
Enhanced cellulase production by a mutant of Penicillium oxalicum for bio-ethanol
applications. Journal of biotechnology, 157(4), 586-593.
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- Improved antibiotic resistance in bacteria: In a study by Toprak and coworkers (2012),
beneficial mutations in the gyrA and parC genes were identified that improved the
antibiotic resistance in E. coli. Reference: Toprak, E., Veres, A., Michel, J. B., Chait, R.,
Hartl, D. L., & Kishony, R. (2012). Evolutionary paths to antibiotic resistance under
dynamically sustained drug selection. Nature genetics, 44(1), 101-105.

- Improved growth rate of E. coli on glycerol: In a study by Conrad et al. (2010), a


beneficial mutation in the glpK gene was identified that improved the growth rate of E.
coli on glycerol as a carbon source. Reference: Conrad, T. M., Frazier, M., Joyce, A. R.,
Cho, B. K., Knight, E. M., Lewis, N. E., & Palsson, B. Ø. (2010). RNA polymerase
mutants found through adaptive evolution reprogram Escherichia coli for optimal growth
in minimal media. Proceedings of the National Academy of Sciences, 107(47),
20500-20505.

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