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: At dusk and dawn: Scientists pinpoint biological clock's synchronicity

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

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

Plants prepackage beneficial microbes in their seeds

22 hours ago

Plants have a symbiotic relationship with certain bacteria. These 'commensal' bacteria help the pants extract nutrients and defend against invaders – an important step in preventing pathogens from contaminating fruits and ...

User comments : 0