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Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.
Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper. German Canc Res Ctr, Heidelberg, Germany.
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Klinisk diabetologi och metabolism. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
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2019 (engelsk)Inngår i: ISCIENCE, ISSN 2589-0042, Vol. 20, s. 42-59Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

We combined CAGE sequencing in human adipocytes during differentiation with data from genome-wide association studies to identify an enhancer in the SNX10 locus on chromosome 7, presumably involved in body fat distribution. Using reporter assays and CRISPR-Cas9 gene editing in human cell lines, we characterized the role of the enhancer in adipogenesis. The enhancer was active during adipogenesis and responded strongly to insulin and isoprenaline. The allele associated with increased waist-hip ratio in human genetic studies was associated with higher enhancer activity. Mutations of the enhancer resulted in less adipocyte differentiation. RNA sequencing of cells with disrupted enhancer showed reduced expression of established adipocyte markers, such as ADIPOQ and LPL, and identified CHI3L1 on chromosome 1 as a potential gene involved in adipocyte differentiation. In conclusion, we identified and characterized an enhancer in the SNX10 locus and outlined its plausible mechanisms of action and downstream targets.

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2019. Vol. 20, s. 42-59
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Identifikatorer
URN: urn:nbn:se:uu:diva-397133DOI: 10.1016/j.isci.2019.09.006ISI: 000493388000004PubMedID: 31557715OAI: oai:DiVA.org:uu-397133DiVA, id: diva2:1374013
Forskningsfinansiär
Swedish Research Council, 2015-02907Knut and Alice Wallenberg Foundation, 2013.0126NIH (National Institute of Health), R01DK106236EXODIAB - Excellence of Diabetes Research in SwedenTilgjengelig fra: 2019-11-28 Laget: 2019-11-28 Sist oppdatert: 2019-11-28bibliografisk kontrollert

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