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TITLE:
The LINC complex is essential for hearing
AUTHOR CONTACT:
Karen B. Avraham
Tel Aviv University
Tel Aviv, UNK, ISR
Phone: 972-3-640-6642
Fax: 972-3-640-9360
E-mail: karena@post.tau.ac.il
View this article at: http://www.jci.org/articles/view/66911?key=408541c0a7d6a28c221c
ACCOMPANYING COMMENTARY
TITLE:
Nucleocytoplasmic connections and deafness
AUTHOR CONTACT:
Howard Worman
Columbia University College of Physcians and Surgeons
New York, NY, USA
Phone: 212-305-1306
Fax: 212 305-6443
E-mail: hjw14@columbia.edu
View this article at: http://www.jci.org/articles/view/67454?key=9e95d8d9835bfa8639b5 END
An important LINC in human hearing
2013-01-25
(Press-News.org) In this issue of the Journal of Clinical Investigation, Karen Avraham and colleagues at Tel Aviv University identified a genetic mutation in two families with hereditary high frequency hearing loss. The mutated gene, which has not previously been linked to hearing loss, encodes NESP4, a protein that is expressed in the outer nuclear membrane (ONM) of the hair cells of the ear. Avraham and colleagues found that mutated NESP4 was mislocalized, disrupting a cellular complex known as the "linker of nucleoskeleton and cytoskeleton" or LINC, which maintains the position of the nucleus within the cell. Hair cells in mice lacking NESP4 or another component of the LINC complex, SUN1, developed normally, but the mice developed hearing loss as they matured. These results demonstrate that the LINC complex is essential for hearing and indicate that nuclear positioning is important for the maintenance of normal hearing. In a companion commentary, Howard Worman of Columbia University discusses the role of the LINC complex in physiology and disease.
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