A "so cilia" network: cilia proteins start "social" networking.

نویسنده

  • Frédéric Saudou
چکیده

Cilia are unique cellular organelles found in nearly all cell types. In recent years, the importance of these organelles has been highlighted by the discovery that mutations in genes encoding proteins related to cilia biogenesis and function cause a class of complex syndromes termed ciliopathies. Emerging evidence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanisms by which these interactions generate functional networks have remained elusive. In this issue of the JCI, Rachel and colleagues have now clearly linked two ciliopathy-associated proteins (CEP290 and MKKS). Surprisingly, the effects of a hypomorphic disease-causing Cep290 allele were rescued by loss of MKKS function, suggesting that it might be possible to treat some ciliopathies by fine-tuning interactions within the expanding ciliary network.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Intralenticular Cilia Following Penetrating Ocular Trauma: A Case Report

Penetrating ocular trauma is one of the most important causes of vision loss, especially in men, and can be associated with intraocular foreign bodies. The incidence of intraocular cilia after trauma is very low. Here we report the case of a 24-year-old man who visited Poostchi Ophthalmology Clinic (Shiraz, Iran) due to a gradual vision loss in his left eye over the past 2 months. The probable ...

متن کامل

Effect of Cilia Beat Frequency on Muco-ciliary Clearance

Background: The airway surface liquid (ASL), which is a ï‌‚uid layer coating the interior epithelial surface of the bronchi and bronchiolesis, plays an important defensive role against foreign particles and chemicals entering lungs.Objective: Numerical investigation has been employed to solve two-layer model consisting of mucus layer as a viscoelastic fluid and periciliary liquid layer as a New...

متن کامل

Pix Proteins and the Evolution of Centrioles

We have made a wide phylogenetic survey of Pix proteins, which are constituents of vertebrate centrioles in most eukaryotes. We have also surveyed the presence and structure of flagella or cilia and centrioles in these organisms, as far as is possible from published information. We find that Pix proteins are present in a vast range of eukaryotes, but not all. Where centrioles are absent so are ...

متن کامل

Proteomic Analysis of Mammalian Primary Cilia

The primary cilium is a microtubule-based organelle that senses extracellular signals as a cellular antenna. Primary cilia are found on many types of cells in our body and play important roles in development and physiology. Defects of primary cilia cause a broad class of human genetic diseases called ciliopathies. To gain new insights into ciliary functions and better understand the molecular m...

متن کامل

Microtubules Enable the Planar Cell Polarity of Airway Cilia

BACKGROUND Airway cilia must be physically oriented along the longitudinal tissue axis for concerted, directional motility that is essential for proper mucociliary clearance. RESULTS We show that planar cell polarity (PCP) signaling specifies directionality and orients respiratory cilia. Within all airway epithelial cells, a conserved set of PCP proteins shows interdependent, asymmetric junct...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • The Journal of clinical investigation

دوره 122 4  شماره 

صفحات  -

تاریخ انتشار 2012