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Detailed Functional...
Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation
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- Castillejo-Lopez, Casimiro (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Pjanic, Milos (author)
- Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA
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- Pirona, Anna Chiara (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper,German Canc Res Ctr, Heidelberg, Germany
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- Hetty, Susanne, 1979- (author)
- Uppsala universitet,Klinisk diabetologi och metabolism,Science for Life Laboratory, SciLifeLab
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- Wabitsch, Martin (author)
- Univ Ulm, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet, Ulm, Germany
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- Wadelius, Claes, 1955- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Quertermous, Thomas (author)
- Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA;Stanford Univ, Stanford Cardiovasc Inst, Stanford, CA 94305 USA
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- Arner, Erik (author)
- RIKEN, Lab Appl Regulatory Genom Network Anal, Ctr Integrat Med Sci, Yokohama, Kanagawa 2300045, Japan
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- Ingelsson, Erik, 1975- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär epidemiologi,Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA;Stanford Univ, Stanford Cardiovasc Inst, Stanford, CA 94305 USA;Stanford Univ, Stanford Diabet Res Ctr, Stanford, CA 94305 USA
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(creator_code:org_t)
- Elsevier BV, 2019
- 2019
- English.
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In: iScience. - : Elsevier BV. - 2589-0042. ; 20, s. 42-59
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
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Castillejo-Lopez ...
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Pjanic, Milos
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Pirona, Anna Chi ...
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Hetty, Susanne, ...
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Wabitsch, Martin
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Wadelius, Claes, ...
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Quertermous, Tho ...
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Arner, Erik
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Ingelsson, Erik, ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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iScience
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Uppsala University