Day 2 (1p36.23-1p36.13): mTOR, a gateway to cell growth


Day 2 has 125 protein-coding genes, including the gene encoding mTOR (the mechanistic target of rapamycin). mTOR commemorates two places in its name. Rapamycin, an antifungal drug that is also used to prevent transplant rejection, was named after Rapa Nui (Easter Island) where it was discovered. And according to Joseph Heitman, who worked to discover the TOR genes in yeast:

TOR also means door or gateway in German, and the TOR protein serves as a gateway to cell growth and proliferation. This name also commemorates the city in which TOR was discovered, as Basel is an older European city once ringed by a protective wall with large decorative gates, including one still standing, named the Spalentor.

"Basel - Spalentor" by Taxiarchos228 - Own work. Licensed under FAL via Commons -

“Basel – Spalentor” by Taxiarchos228 – Own work. Licensed under FAL via Commons –

mTOR is a kinase that regulates cell growth and is important in many diseases. Mutations that activate mTOR can lead to cancer. Therefore it is an attractive drug target.

The mTOR gene is truly ancient – it can be found in species as distant as rice. This suggests that it is as old as the common ancestor of eukaryotes (> 1.6 billion years).

Click here to jump to the location of a S2215F mutation in mTOR (flashing) which has been found in multiple skin cancers. Note that the mutation isn’t a SNP in the reference sequence – it’s listed as just the reference (A). That is because S2215F is found in tumors but not in normal genomes – it is a somatic mutation that happens in a subset of cells during cancer, but has never been observed as an inherited mutation.

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