2372 Research Article BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking Qihong Zhang1, Darryl Nishimura1, Tim Vogel2, Jianqiang Shao3, Ruth Swiderski1, Terry Yin4, Charles Searby1, Calvin S. Carter5, GunHee Kim1, Kevin Bugge1, Edwin M. Stone6 and Val C. Sheffield1,* 1Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA 2Department of Neurosurgery, University of Iowa, Iowa City, IA 52242, USA 3Central Microscopy Research Facilities, University of Iowa, Iowa City, IA 52242, USA 4Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA 5Program in Neuroscience, University of Iowa, Iowa City, IA 52242, USA 6Department of Ophthalmology and Visual Sciences, Howard Hughes Medical Institute, University of Iowa, Iowa City 52242, USA *Author for correspondence (
[email protected]) Accepted 18 March 2013 Journal of Cell Science 126, 2372–2380 ß 2013. Published by The Company of Biologists Ltd doi: 10.1242/jcs.111740 Summary Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1– BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, the BBS chaperonin complex. To examine the in vivo function of BBS7, we generated Bbs7 knockout mice. Bbs72/2 mice show similar phenotypes to other BBS gene mutant mice including retinal degeneration, obesity, ventriculomegaly and male infertility characterized by abnormal spermatozoa flagellar axonemes.