{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T08:56:46Z","timestamp":1762073806409,"version":"build-2065373602"},"reference-count":54,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Projekt DEAL","award":["BR 1285\/12"],"award-info":[{"award-number":["BR 1285\/12"]}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft (DFG)","doi-asserted-by":"publisher","award":["BR 1285\/12"],"award-info":[{"award-number":["BR 1285\/12"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The Bardet\u2013Biedl Syndrome 7 (Bbs7) gene was identified as the most likely candidate gene causing juvenile obesity in the Berlin Fat Mouse Inbred (BFMI) line. Bbs7 expression is significantly lower in the brain, adipose tissue, and liver of BFMI mice compared to lean C57BL\/6NCrl (B6N) mice. A DNA sequence comparison between BFMI and B6N revealed 16 sequence variants in the Bbs7 promoter region. Here, we tested if these mutations contribute to the observed differential expression of Bbs7. In a cell-based dual-luciferase assay, we compared the effects of the BFMI and the B6N haplotypes of different regions of the Bbs7 promotor on the reporter gene expression. A single-nucleotide polymorphism (SNP) was identified causing a significant reduction in the reporter gene expression. This SNP (rs29947545) is located in the 5\u2032 UTR of Bbs7 at Chr3:36.613.350. The SNP is not unique to BFMI mice but also occurs in several other mouse strains, where the BFMI allele is not associated with lower Bbs7 transcript amounts. Thus, we suggest a compensatory mutation in the other mouse strains that keeps Bbs7 expression at the normal level. This compensatory mechanism is missing in BFMI mice and the cell lines tested.<\/jats:p>","DOI":"10.3390\/ijms232113018","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T20:37:58Z","timestamp":1666903078000},"page":"13018","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A 5\u2032 UTR Mutation Contributes to Down-Regulation of Bbs7 in the Berlin Fat Mouse"],"prefix":"10.3390","volume":"23","author":[{"given":"Kourosh","family":"Mohebian","sequence":"first","affiliation":[{"name":"Albrecht Daniel Thaer-Institut f\u00fcr Agrar- und Gartenbauwissenschaften, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, 10099 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deike","family":"Hesse","sequence":"additional","affiliation":[{"name":"Albrecht Daniel Thaer-Institut f\u00fcr Agrar- und Gartenbauwissenschaften, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, 10099 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danny","family":"Arends","sequence":"additional","affiliation":[{"name":"Albrecht Daniel Thaer-Institut f\u00fcr Agrar- und Gartenbauwissenschaften, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, 10099 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4387-2947","authenticated-orcid":false,"given":"Gudrun A.","family":"Brockmann","sequence":"additional","affiliation":[{"name":"Albrecht Daniel Thaer-Institut f\u00fcr Agrar- und Gartenbauwissenschaften, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, 10099 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,27]]},"reference":[{"key":"ref_1","unstructured":"Piwoz, E.G. 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