Researchers define role of CEP290 in maintaining ciliary function

Sep 06, 2010

A new study in the September 6 issue of the Journal of Cell Biology helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.

Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP—the most common syndromic form of cystic in childhood—among others.

Although the exact role of CEP290 has been unclear, a team of researchers from the University of Massachusetts Medical School and Yale University now demonstrate that CEP290 is an integral component of the ciliary "gate" that bridges the transition zone between the cilia and cytoplasm. The protein plays an important role in maintaining the structural integrity of this gate, and thus has a crucial role in maintaining ciliary function.

Explore further: Understanding how cells follow electric fields

More information: Craige, B., et al. 2010. J. Cell Biol. doi:10.1083/jcb.201006105
Omran, H. 2010. J. Cell Biol. doi:10.1083/jcb.201008080

Related Stories

Recommended for you

Understanding how cells follow electric fields

14 hours ago

Many living things can respond to electric fields, either moving or using them to detect prey or enemies. Weak electric fields may be important growth and development, and in wound healing: it's known that ...

Protein scaffold

May 27, 2015

Right before a cell starts to divide to give birth to a daughter cell, its biochemical machinery unwinds the chromosomes and copies the millions of protein sequences comprising the cell's DNA, which is packaged ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.