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PDZD7 is a PDZ domain\u2010containing scaffold protein that was suggested to be a USH modifier and a contributor to digenic USH. In the inner ear hair cells, PDZD7 localizes at the ankle region of the stereocilia and constitutes the so\u2010called ankle\u2010link complex together with three other USH proteins Usherin, WHRN, and ADGRV1.\n                    <jats:italic>PDZD7<\/jats:italic>\n                    gene is subjected to alternative splicing, which gives rise to two types of PDZD7 isoforms, namely the long and short isoforms. At present, little is known which specific isoform is involved in ankle\u2010link formation and stereocilia development. In this work, we showed that PDZD7 long isoform, but not short isoforms, localizes at the ankle region of the stereocilia. Moreover, we established\n                    <jats:italic>Pdzd7<\/jats:italic>\n                    mutant mice by introducing deletions into exon 14 of the\n                    <jats:italic>Pdzd7<\/jats:italic>\n                    gene, which causes potential premature translational stop in the long isoform but leaves short isoforms unaffected. We found that lack of PDZD7 long isoform affects the localization of other ankle\u2010link complex components in the stereocilia. Consequently,\n                    <jats:italic>Pdzd7<\/jats:italic>\n                    mutant mice showed stereocilia development deficits and hearing loss as well as reduced mechanotransduction (MET) currents, suggesting that PDZD7 long isoform is indispensable for hair cells. Furthermore, by performing yeast two\u2010hybrid screening, we identified a PDZD7 long isoform\u2010specific binding partner PIP5K1C, which has been shown to play important roles in hearing and might participate in the function and\/or transportation of PDZD7.\n                  <\/jats:p>","DOI":"10.1096\/fj.201901657rr","type":"journal-article","created":{"date-parts":[[2019,11,29]],"date-time":"2019-11-29T08:08:50Z","timestamp":1575014930000},"page":"1136-1149","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Lack of PDZD7 long isoform disrupts ankle\u2010link complex and causes hearing loss in mice"],"prefix":"10.1096","volume":"34","author":[{"given":"Haibo","family":"Du","sequence":"first","affiliation":[{"name":"Shandong Provincial Key Laboratory of Animal Cell and Developmental Biology School of Life Sciences Shandong University Qingdao 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