Articles on ethical issues in genetics are preceded by an asterisk.

Beck, C. R., P. Collier, and C. Macfarlane, et al. 2010. LINE-1 retrotransposition activity in human genomes. Cell 141:1159–1170.

Research showing that recent transpositions are more common than previously thought.

Chamary, J. V., and L. D. Hurst. 2009. The price of silent mutations. Scientific American 300(6): 46–53.

A very readable account of how silent mutations may not, in fact, be silent.

Chen, X., Z. Chen, H. Chen, et al. 2012. Nucleosomes suppress spontaneous mutations base-specifically in eukaryotes. Science 335:1235–1238.

Research that reveals that DNA associated with nucleosomes is less mutated.

Conrad, D. F., J. Keebler, M. A DePristo, et al. 2011. Variation in genome-wide mutation rates within and between human families. Nature Genetics 43:712–714.

Sequencing of two sets of parents and child provides estimates of overall mutation rates.

Denver, D. R., K. Morris, M. Lynch, et al. 2004. High mutation rate and predominance of insertions in the Caenorhabditis elegans nuclear genome. Nature 430:679–682.

Reports on research that examines mutation rates in C. elegans by directly sequencing DNA.

Dovoret, R. 1979. Bacterial tests for potential carcinogens. Scientific American 241(2): 40–49.

A discussion of the Ames tests and more recent tests of mutagenesis in bacteria.

Drake, J. W., and R. H. Baltz. 1976. The biochemistry of mutagenesis. Annual Review of Biochemistry 45:11–37.

A discussion of how mutations are produced by mutagenic agents.

Fedoroff, N. V. 1993. Barbara McClintock (June 16, 1902–September 2, 1992). Genetics 136:1–10.

An excellent summary of Barbara McClintock’s life and her influence in genetics.

Feschotte, C., and E. J. Pritham. 2007. DNA transposons and the evolution of eukaryotic genomes. Annual Review of Genetics 41:331–368.

A review of DNA (Class II) transposons and how they have shaped the evolution of eukaryotic genomes.

Gonzalez, J., and D. Petrov. 2009. MITES—the ultimate parasites. Science 325:1352–1353.

An interesting article about how transposons have their own transposons.

Goodman, M. F. 1995. DNA models: mutations caught in the act. Nature 378:237–238.

A review of the role of tautomerization in replication errors.

Grindley, N. D. F., and R. R. Reed. 1985. Transpositional recombination in prokaryotes. Annual Review of Biochemistry 54:863–896.

A review of the mechanisms of transposition.

Halic, M., and D. Moazed. 2009. Transposon silencing by piRNAs. Cell 138:1058–1060.

A short review of how transposons are controlled by Piwi-interacting RNAs.

Hurst, L. D. 2011. The sound of silence. Nature 471:582–583.

A brief discussion of how not all silent mutations are actually silent.

Iskow, R. C., M. T. McCabe, R. E. Mills, et al. 2010. Natural mutagenesis of human genomes by endogenous retrotransposons. Cell 141:1253–1261.

More research on rates of transposition in humans.

Jackson, S. P., and J. Bartek. 2009. The DNA-damage response in human biology and disease. Nature 461:1071–1078.

A review of the association of DNA repair and disease in humans.

Kazazian, H. H., Jr. 2004. Mobile elements: drivers of genome evolution. Science 303:1626–1632.

A good summary of different types of transposable elements and their roles in shaping the evolution of genomes.

Keller, E. F. 1983. A Feeling for the Organism: The Life and Work of Barbara McClintock. New York: W. H. Freeman.

A wonderful biography of Barbara McClintock that captures her unique personality, her love for research, and her deep understanding of corn genetics.

Kobayashi, S., K. Goto-Yamamoto, and H. Hirochika. 2004. Retrotransposon-induced mutations in grape skin color. Science 304:982.

Reports that white color in grapes is due to the insertion of a retrotransposon and that red color is due to the removal of the retrotransposon.

Kunkel, T. A., and D. A. Erie. 2005. DNA mismatch repair. Annual Review of Biochemistry 74:681–710.

An extensive review of mismatch repair.

Lee, E., R. Iskow, L. Yang, et al. 2012. Landscape of somatic retrotransposition in human cancers. Science 337:967–971.

Research showing that some cancers are associated with transposition.

Lombard, D. B., K. F. Chua, R. Mostoslavsky, et al. 2005. DNA repair, genome stability, and aging. Cell 120:497–512.

A great review of evidence linking aging to DNA damage and DNA repair.

Martin, J. B. 1993. Molecular genetics of neurological diseases. Science 262:674–676.

A discussion of expanding nucleotide repeats as a cause of neurological diseases.

Michaelson, J. J., Y. Shi, and M. Gujral, et al. 2012. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151:1431–1442.

Research showing that certain areas of the genome are mutation hot spots.

Mirkin, S. M. 2007. Expandable DNA repeats and human disease. Nature 447:932–940.

An excellent review of expanding nucleotide repeats and their relation to human diseases.

Modrich, P. 1991. Mechanisms and biological effects of mismatch repair. Annual Review of Genetics 25:229–253.

A comprehensive review of mismatch repair.

Sancar, A. 1994. Mechanisms of DNA excision repair. Science 266:1954–1956.

R15

An excellent review of research on excision repair. This issue of Science is about the “molecule of the year” for 1994, which was DNA repair (actually not a molecule).

Sinden, R. R. 1999. Biological implications of DNA structures associated with disease-causing triplet repeats. American Journal of Human Genetics 64:346–353.

A good summary of disease-causing trinucleotide repeats and some models for how they might arise.

Studer, A., Q. Zhao, J. Ross Ibarra, et al. 2011. Identification of a functional transposon insertion in the maize domestication gene tb1. Nature Genetics 43:1160–1163.

Research showing that domestication of maize was influenced by a transposon.

Sureshkumar, S., M. Todesco, K. Schneeberger, et al. 2009. A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. Science 323:1060–1063.

A report of an expanding nucleotide repeat in a plant.

Tanaka, K., and R. D. Wood. 1994. Xeroderma pigmentosum and nucleotide excision repair. Trends in Biochemical Sciences 19:84–86.

A review of the molecular basis of xeroderma pigmentosum.

Xiag, H., N. Jiang, E. Schaffner, et al. 2008. A retrotransposon-mediated gene duplication underlies morphological variation of tomato fruit. Science 319:1527–1530.

A report of how a transposable element led to a chromosome duplication that resulted in elongate tomatoes.

Yu, S., J. Mulley, D. Loesch, et al. 1992. Fragile-X syndrome: unique genetics of the heritable unstable element. American Journal of Human Genetics 50:968–980.

A research report describing the expanding trinucleotide repeat that causes fragile-X syndrome.