Volume 86, Issue 6: June 11, 2010
(Next issue: July 9, 2010)
In 1981, Martin Evans and Matt Kaufman reported that they had successfully established cell culture lines of mouse cells that were able to develop into any type of cells (Nature 292, 154–156). In 1984, with the help of additional colleagues, they injected these pluripotent embryonic stem cells into mouse blastocysts and demonstrated that the cells could incorporate into the germline and contribute to the development of chimeric mice (Nature 309, 255–256). This opened the door for the possibility of deliberately introducing desired genetic material into a mouse line. Such a process was first accomplished via retroviral infection, but the ability to specifically replace a gene with a modified version was not possible until techniques utilizing homologous recombination were refined. In 1985 and 1986, the groups of Oliver Smithies and Mario Capecchi, respectively, demonstrated homologous recombination in cell culture (Nature 317, 230–234; Cell 44, 419–428). The groups then made the leap toward modifying mice by successfully performing homologous recombination in Evans's mouse ES cells in 1987 (Nature 330, 576–578; Cell 51, 503–512). By 1989, the groups of Melton, Smithies, Jaenisch, and Capecchi had harnessed this technology and produced the first lines of knockout mice (Cell 56, 313-321; PNAS 86, 8927–2931; Nature 342, 435–438. Nature 346, 847–850). For their work, Capecchi, Evans, and Smithies received the Nobel Prize in Physiology or Medicine in 2007. On the cover is a redrawing of Figure 1 describing the gene-targeting technique used by Thomas and Capecchi in Cell 51, 503–512, against a backdrop of a chimeric mouse. Reprinted with permission from Elsevier.
The American Journal of Human Genetics publishes papers online ahead of the print issue on a weekly basis. This week's postings include a report by Walsh et al. in which the authors use exome sequencing to identify a mutation in GPSM2 that causes hearing loss, a paper by Walsh et al. about a duplication that causes age-related hearing loss, a manuscript by Isidor et al. that describes deletions on 8q that cause mesomelia-synostoses syndrome, and an article by Duffy et al. about their GWAS for nevus count.
Click here to see all papers published early online.
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Abraham's children in the genomic era
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Nonrecurrent rearrangements in CMT1A and HNPP |
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Controlling for population stratification in mtDNA association studies |
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A definitive haplotype map of the Asian population |
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UFS is caused by HPSE2 mutations |
The genetics of obesity: FTO leads the way
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