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Human\n                    <jats:italic>PAX3<\/jats:italic>\n                    mutations cause Waardenburg syndrome and abnormalities of skin and retinal melanocytes, manifested as congenital hearing loss (~\u200970%) and hypopigmentation of skin, hair and eyes. However, the underlying mechanism of hearing loss remains unclear. Cochlear melanocytes in the stria vascularis originated from\n                    <jats:italic>Pax3<\/jats:italic>\n                    -traced melanoblasts and\n                    <jats:italic>Plp1<\/jats:italic>\n                    -traced Schwann cell precursors, both of which derive from neural crest cells. Here, using a\n                    <jats:italic>Pax3-Cre<\/jats:italic>\n                    knock-in mouse that allows lineage tracing of\n                    <jats:italic>Pax3<\/jats:italic>\n                    -expressing cells and disruption of\n                    <jats:italic>Pax3<\/jats:italic>\n                    , we found that Pax3 deficiency causes foreshortened cochlea, malformed vestibular apparatus, and neural tube defects. Lineage tracing and in situ hybridization show that\n                    <jats:italic>Pax3<\/jats:italic>\n                    <jats:sup>+<\/jats:sup>\n                    derivatives contribute to S100\n                    <jats:sup>+<\/jats:sup>\n                    ,\n                    <jats:italic>Kir4.1<\/jats:italic>\n                    <jats:sup>+<\/jats:sup>\n                    and\n                    <jats:italic>Dct<\/jats:italic>\n                    <jats:sup>+<\/jats:sup>\n                    melanocytes (intermediate cells) in the developing stria vascularis, all of which are significantly diminished in\n                    <jats:italic>Pax3<\/jats:italic>\n                    mutant animals. Taken together, these results suggest that\n                    <jats:italic>Pax3<\/jats:italic>\n                    is required for the development of neural crest cell-derived cochlear melanocytes, whose absence may contribute to congenital hearing loss of Waardenburg syndrome in humans.\n                  <\/jats:p>","DOI":"10.1038\/s41598-024-52629-9","type":"journal-article","created":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T02:02:15Z","timestamp":1706234535000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea"],"prefix":"10.1038","volume":"14","author":[{"given":"Tomokatsu","family":"Udagawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erisa","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norifumi","family":"Tatsumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Mutai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Saijo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Atkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuo","family":"Matsunaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamoru","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Okabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan G.","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,26]]},"reference":[{"key":"52629_CR1","doi-asserted-by":"publisher","first-page":"e2082","DOI":"10.1002\/mgg3.2082","volume":"10","author":"CY Lee","year":"2022","unstructured":"Lee, C. 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