The gene matures the skeleton of the cell. 'I'm a professional pin-in-a-haystack seeker,' geneticist Thijn Brummelkamp responded when asked why he succeeds at finding proteins and genes that others have missed, despite the fact that some have remained elusive for as long as forty years. His researc
The gene that the scientists uncovered makes sure that actin’s, a major component of our cell skeleton, final form is produced.“I’m a professional pin-in-a-haystack seeker,” geneticist Thijn Brummelkamp responded when asked why he succeeds at finding proteins and genes that others have missed, despite the fact that some have remained elusive for as long as forty years.
Peter Haahr, a postdoc in Brummelkamp’s group, worked on the following experiment: first, he caused random mutations in random haploid cells. Then he selected the cells containing the immature actin by adding a fluorescently labeled antibody to his cells that fit in the exact spot where the amino acid is cut off. As a third and final step, he investigated which gene mutated after this process.
To test whether a lack of ACTMAP leads to issues in living things, they switched off the gene in mice. They observed that the actin in the cell skeleton of these mice remained unfinished, as expected. They were surprised to find that the mice did stay alive, but suffered from muscle weakness. The researchers conducted this research together with scientists fromACTMAP is not the first mystery gene discovered by Brummelkamp that plays a role in our cell skeleton function.
Reference: “Actin maturation requires the ACTMAP/C19orf54 protease” by Peter Haahr, Ricardo A. Galli, Lisa G. van den Hengel, Onno B. Bleijerveld, Justina Kazokaitė-Adomaitienė, Ji-Ying Song, Lona J. Kroese, Paul Krimpenfort, Marijke P. Baltissen, Michiel Vermeulen, Coen A. C. Ottenheijm and Thijn R. Brummelkamp, 29 September 2022,