In:
eLife, eLife Sciences Publications, Ltd, Vol. 4 ( 2015-05-30)
Abstract:
Joubert syndrome is a rare disorder that affects the brain and causes physical, mental, and sometimes visual impairments. In individuals with this condition, two parts of the brain called the cerebellar vermis and the brainstem do not develop properly. This is thought to be due to defects in the development and maintenance of tiny hair-like structures called cilia, which are found on the surface of cells. Currently, mutations in 25 different genes are known to be able to cause Joubert syndrome. However, these mutations only account for around 50% of the cases that have been studied, and the ‘unexplained’ cases suggest that mutations in other genes may also cause the disease. Here, Roosing et al. used a technique called a ‘genome-wide siRNA screen’ to identify other genes regulating the formation of cilia that might also be connected with Joubert syndrome. This approach identified almost 600 candidate genes. The data from the screen were combined with gene sequence data from 145 individuals with unexplained Joubert syndrome. Roosing et al. found that individuals with Joubert syndrome from 15 different families had mutations in a gene called KIAA0586 . In chickens and mice, this gene—known as Talpid3 —is required for the formation of cilia. Roosing et al.'s findings reveal a new gene that is involved in Joubert syndrome and also provides a list of candidate genes for future studies of other conditions caused by defects in the formation of cilia. The next challenges are to find out what causes the remaining unexplained cases of the disease and to understand what roles the genes identified in this study play in cilia.
Type of Medium:
Online Resource
ISSN:
2050-084X
DOI:
10.7554/eLife.06602.001
DOI:
10.7554/eLife.06602.002
DOI:
10.7554/eLife.06602.003
DOI:
10.7554/eLife.06602.004
DOI:
10.7554/eLife.06602.005
DOI:
10.7554/eLife.06602.006
DOI:
10.7554/eLife.06602.007
DOI:
10.7554/eLife.06602.008
DOI:
10.7554/eLife.06602.009
DOI:
10.7554/eLife.06602.010
DOI:
10.7554/eLife.06602.011
DOI:
10.7554/eLife.06602.012
DOI:
10.7554/eLife.06602.013
DOI:
10.7554/eLife.06602.014
DOI:
10.7554/eLife.06602.015
DOI:
10.7554/eLife.06602.016
DOI:
10.7554/eLife.06602.017
DOI:
10.7554/eLife.06602.018
DOI:
10.7554/eLife.06602.019
Language:
English
Publisher:
eLife Sciences Publications, Ltd
Publication Date:
2015
detail.hit.zdb_id:
2687154-3
