Mutation of TMEM107 causes rare brain disease

Dam, John van.png

John van Dam and Martijn Huynen from the CMBI, together with their colleagues from Ireland and France, recently published a Nature Cell Biology paper describing the discovery of a novel ciliary gene TMEM107. Mutations in TMEM107 cause Joubert syndrome, a rare genetic disorder. The underlying cause of the disease is a defect of the cilium, a tiny little hair that sticks out of the cell and acts like an antenna for cell-to-cell communications.

Border control
The newly discovered TMEM107-gene is part of a component of the cilium that acts like a border control, keeping tight control on which proteins can enter and exit the cilium. To relay cell-to-cell communications effectively, selective entry and exit of proteins into the cilium is paramount. Mutations in TMEM107 disrupt this border control-function, which in turn causes Joubert syndrome.

undefinedMartijn Huynen: “This research shows how multidisciplinary collaborations between bioinformaticians, geneticists, cell biologists and zoologists can lead to exceptional results. The predictions of our algorithms were directly confirmed by experiments leading to the discovery of TMEM107 as a gene involved in ciliary function.”


TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Lambacher NJ, Bruel AL, Van Dam TJP, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, Van der Lee R, Burglen L, Doummar, D, Riviere JB, Faivre L, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE. Nat Cell Biol.


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