NHS-A isoform of the NHS gene is a novel interactor of ZO-1

Sharma, S; Koh, KSY; Collin, C; Dave, A; McMellon, A; Sugiyama, Y; McAvoy, JW; Voss, AK; Gecz, J; Craig, JE

Author(s): Sharma, S; Koh, KSY; Collin, C; Dave, A; McMellon, A; Sugiyama, Y; McAvoy, JW; Voss, AK; Gecz, J; Craig, JE;
Details: Publication Year 2009-08-15,Volume 315,Issue #14,Page 2358-2372
Journal Title: EXPERIMENTAL CELL RESEARCH
Publication Type: Journal Article
Abstract: Mutations in the NHS (Nance-Horan Syndrome) gene lead to severe congenital cataracts, dental defects and sometimes mental retardation. NHS encodes two protein isoforms, NHS-A and -1A that display cell-type dependent differential expression and localization. Here we demonstrate that of these two isoforms, the NHS-A isoform associates with the cell membrane in the presence of intercellular contacts and it immunoprecipitates with the tight junction protein ZO-1 in MDCK (Madin Darby Canine Kidney) epithelial cells and in neonatal rat lens. The NHS-1A isoform however is a cytoplasmic protein. Both Nhs isoforms are expressed during mouse development. Immunolabelling of developing mouse with the anti-NHS antibody that detects both isoforms revealed the protein in the developing head including the eye and brain. It was primarily expressed in epithelium including neural epithelium and certain vascular endothelium but only weakly expressed in mesenchymal cells. In the epithelium and vascular endothelium the protein associated with the cell membrane and co-localized with ZO-1, which indirectly indicates expression of the Nhs-A isoform in these structures. Membrane localization of the protein in the lens vesicle similarly supports Nhs-A expression. In conclusion, the NHS-A isoform of NHS is a novel interactor of ZO-1 and may have a role at tight junctions. This isoform is important in mammalian development especially of the organs in the head. (C) 2009 Elsevier Inc. All rights reserved.
Publisher: ELSEVIER INC
Keywords: NANCE-HORAN-SYNDROME; X-LINKED CATARACT; CONGENITAL CATARACT; MENTAL-RETARDATION; TIGHT-JUNCTION; EXPRESSION; MUTATIONS; FAMILIES; PROTEIN; IDENTIFICATION
Publisher's Version: https://doi.org/10.1016/j.yexcr.2009.05.008
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2009-08-15 12:00:00