Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.

Journal of Cell Science
Eric A BanksJean X Jiang

Abstract

The connexin (Cx) 50, E48K, mutation is associated with a human dominant congenital cataract; however, the underlying molecular mechanism has not been characterized. The glutamate (E) residue at position 48 is highly conserved across animal species and types of connexins. When expressed in paired Xenopus oocytes, human (h) and chicken (ch) Cx50 E48K mutants showed no electrical coupling. In addition, this mutation acts in a dominant negative manner when paired hetero-typically or hetero-merically with wild-type Cx50, but has no such effect on Cx46, the other lens fiber connexin. A similar loss-of-function and dominant negative effect was observed using dye transfer assays in the same system. By using two different dye transfer methods, with two different tracer dyes, we found chCx50 E48K expressed in chicken lens embryonic fibroblast cells by retroviral infection similarly failed to induce dye coupling, and prevented wild-type chCx50 from forming functional gap junctions. In contrast to its effect on gap junctions, the E48K mutation has no effect on hemichannel activity when assayed using electrical conductance in oocytes, and mechanically induced dye uptake in cells. Cx50 is functionally involved in cell differentiation and le...Continue Reading

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Citations

Jul 14, 2010·European Journal of Medical Genetics·Bingyu Huang, Weigong He
Sep 17, 2009·Immunological Reviews·Russell D Salter, Simon C Watkins
Sep 16, 2010·European Journal of Clinical Investigation·Anna PfennigerBrenda R Kwak
Oct 20, 2011·Biochimica Et Biophysica Acta·Annette KoulakoffChristian Giaume
May 28, 2016·BMC Cell Biology·Isaac E GarcíaAgustín D Martínez
Sep 6, 2013·American Journal of Physiology. Cell Physiology·Clio RubinosMiduturu Srinivas
Apr 2, 2011·The Journal of Biological Chemistry·Jialu LiuJean X Jiang
Jul 15, 2017·Scientific Reports·Zhengping HuJean X Jiang
Aug 30, 2020·Nature Communications·Jonathan A FloresSteve L Reichow
Sep 11, 2021·Experimental Cell Research·Jie ZhangOdunayo O Mugisho

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