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This Week in PNAS: Aug 4, 2015

In the early, online edition of the Proceedings of the National Academy of Sciences, a Princeton University-led team used RNA sequencing to track genes that are prone or resistant to mutation in multiple myeloma cells coaxed into becoming drug resistant in a doxorubicin gradient device. When they compared transcript patterns in the drug-resistant cells to those in control cells grown in the gradient without doxorubicin, the researchers saw some sets of genes with high mutation rates in cells acquiring doxorubicin-resistance. In contrast to these so-called 'hot genes,' roughly one-fifth of genes were classified as 'cold,' owing to their lack of substitution in resistant cells. The study's authors note that genes at both end of this spectrum tended to be ancient genes, hinting that "cancer represents a revision back to ancient forms of life adapted to high fitness under extreme stress."

Cornell University researchers relied on CRISPR/Cas9 genome editing in mice as a resource for modeling the effects of variants with potential ties to infertility. The team focused on four non-synonymous SNPs from the dbSNP database that were suspected of having deleterious effects on meiosis to search for infertility-causing alleles. The approach unearthed an allele in the Cdk2 gene that appeared to be essential for fertility, prompting the researchers to argue that the same reverse genetics method might prove useful for verifying disease-related variants for other conditions as well.

Using a mouse knockout model, a team from the University of California, San Diego took a look at the function of an apparent high-altitude adaptation gene called EdnrB, which was first detected through a genome sequencing study of altitude-adapted Ethiopians. Mice missing one copy of the EdnrB gene showed less severe symptoms under low oxygen conditions, the researchers found, while RNA sequencing experiments on heart tissue samples from such animals pointed to altered expression of three genes from pathways involved with heart and/or muscle function. Based on their findings, the study's authors argue that "EDNRB plays a key role in hypoxia tolerance and that a lower level of EDNRB contributes, at least in part, to [high-altitude] adaptation in humans."