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We report that pelage abnormalities developed during hair follicle (HF) morphogenesis in Harlequin (<jats:italic>Hq<\/jats:italic>) mutant mice. Fragility of the hair cortex was associated with decreased expression of genes encoding structural hair proteins, though key transcriptional regulators of HF development were expressed at normal levels. Notably,<jats:italic>Aifm1 (R200 del)<\/jats:italic>knockin males and<jats:italic>Aifm1<\/jats:italic><jats:sup><jats:italic>(R200 del)\/Hq<\/jats:italic><\/jats:sup>females showed minor hair defects, despite substantially reduced AIF levels. Furthermore, we cloned the integrated ecotropic provirus of the<jats:italic>Aifm1<\/jats:italic><jats:sup><jats:italic>Hq<\/jats:italic><\/jats:sup>allele. We found that its overexpression in wild-type keratinocyte cell lines led to down-regulation of HF-specific<jats:italic>Krt84<\/jats:italic>and<jats:italic>Krtap3<\/jats:italic>-<jats:italic>3<\/jats:italic>genes without altering<jats:italic>Aifm1<\/jats:italic>or epidermal<jats:italic>Krt5<\/jats:italic>expression. Together, our findings imply that pelage paucity in<jats:italic>Hq<\/jats:italic>mutant mice is mechanistically linked to severe AIF deficiency and is associated with the expression of retroviral elements that might potentially influence the transcriptional regulation of structural hair proteins.<\/jats:p>","DOI":"10.1007\/s00335-020-09854-0","type":"journal-article","created":{"date-parts":[[2020,12,26]],"date-time":"2020-12-26T17:02:38Z","timestamp":1609002158000},"page":"12-29","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements"],"prefix":"10.1007","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1066-6346","authenticated-orcid":false,"given":"Maik","family":"Hintze","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Griesing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Michels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Blanck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Wischhof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Hartmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Bano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Franz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,12,26]]},"reference":[{"key":"9854_CR1","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.virol.2010.06.004","volume":"405","author":"S Apte","year":"2010","unstructured":"Apte S, Sanders DA (2010) Effects of retroviral envelope-protein cleavage upon trafficking, incorporation, and membrane fusion. 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