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JCI early table of contents for Jan. 25, 2013
Date:1/25/2013

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View this article at: http://www.jci.org/articles/view/67887?key=741bcde7c39c877f58de


An important LINC in human hearing

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.

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 o
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Contact: Jillian Hurst
press_releases@the-jci.org
Journal of Clinical Investigation
Source:Eurekalert

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