Nucleocytoplasmic connections and deafness.
The linker of nucleoskeleton and cytoskeleton (LINC) complex connects the nuclear lamina to the cytoskeleton, in part to aid in nuclear positioning. Mutations in genes encoding LINC complex and lamina components cause a range of human diseases. In this issue of the JCI, Horn et al. report that mutations in the gene SYNE4 encoding the LINC complex protein nesprin-4 lead to progressive high-frequency hearing loss. Further, in mice deficient in nesprin-4 and Sun1, another LINC complex component, outer hair cells of the cochlea form normally during development, but die in the early postnatal weeks. These results link improper nuclear positioning specifically to the death of outer hair cells in the organ of Corti and ultimately to deafness.
Department of Medicine, College of Physician and Surgeons, Columbia University, 630 West 168th Street, New York, New York 10032, USA. hjw14@columbia.edu
Howard J
HJ
Worman
Neil
N
Segil
D000818:Animals; D005260:Female; D006309:Hearing / Q000502:physiology*; D006801:Humans; D008297:Male; D046912:Multiprotein Complexes / Q000502:physiology*
D046912:Multiprotein Complexes