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PNAS Papers on Deafness Mutation Function, Translesion Synthesis Inhibitor, Codon Evolution

Researchers at the Hong Kong University of Science and Technology and elsewhere take a closer look at a transmembrane channel-like protein 1 (TMC1)-coding gene mutation called D572N that has been implicated in a deafness in humans. Using a microbead-based single-molecule pulldown assay and other approaches, the team examined TMC1 interactions with the membrane protein LHFPL5, and the consequences that the D572N mutation may have when it comes to sensory inner ear hair cell mechanotransduction events that help convert sound waves to neural messages. "[O]ur findings reveal previously unrecognized physical and functional interactions of TMC1 and LHFPL5," the authors explain, "and provide insights into the molecular mechanism by which the D572N mutations causes deafness."

A Massachusetts Institute of Technology-led team presents mouse xenograft, mouse cell line, and human cell line evidence suggesting that it may be possible to boost cisplatin chemotherapy response with a compound inhibiting REV1, which is involved in a "mutagen translesion synthesis" (TLS) process that helps cells withstand DNA damage. With the help of an in vivo drug sensitivity testing microdevice, the researchers tracked response to cisplatin and a REV1 inhibitor called JH-RE-06 in two mouse xenograft tumor models, following up on their findings in half a dozen human or mouse cell lines. "These observations suggest that targeting REV1 with JH-RE-06 profoundly affects the nature of the persistent genomic damage after cisplatin treatment and also the resulting physiological responses," they report.

Researchers at Rutgers-Robert Wood Johnson Medical School dig into Escherichia coli genetic code usage and the evolution of codons. The team's analysis of more than 4,200 protein-coding genes provided a window into the evolution of the codons that can produce 20 amino acids, it explains, particularly the advent of two distinct codons for the amino acid serine (Ser). "Looking at the codon table, we seem to be able to decipher hidden stories about how genetic codons evolved," the authors write, adding that "[f]urther examination of other bacteria and also archaea for the usages of the two different Ser codon boxes will likely further shed light on the question on their evolutional origins."