ArticleHuman molecular genetics2014
Functional characterization of SIM1-associated enhancers.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Effects of targeted deletion of a 284 bp avian-specific highly conserved element within theZoological research · 2025Article
- Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.Cell genomics · 2024Article
- Identification of ancestral gnathostome Gli3 enhancers with activity in mammals.Development, growth & differentiation · 2024Article
- Regeneration and developmental enhancers are differentially compatible with minimal promoters.Developmental biology · 2022Article
- Comparative genomic analysis of human GLI2 locus using slowly evolving fish revealed the ancestral gnathostome set of early developmental enhancers.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Clinical Significance ofOncoTargets and therapy · 2021Article
- CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.Science (New York, N.Y.) · 2019Article
- Genetic variation in theProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.European journal of human genetics : EJHG · 2015Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using comparative genomics coupled with zebrafish and mouse transgenic enhancer assays. Owing to the dual role of Sim1 in hypothalamic development and in adult energy homeostasis, the enhancer activity of these sequences was annotated from embryonic to adult age. Of the seventeen tested sequences, two SIM1 candidate enhancers (SCE2 and SCE8) were found to have brain-enhancer activity in zebrafish. Both SCE2 and SCE8 also exhibited embryonic brain-enhancer expression in mice, and time course analysis of SCE2 activity showed overlapping expression with Sim1 from embryonic to adult age, notably in the hypothalamus in adult mice. Using a deletion series, we identified the critical region in SCE2 that is needed for enhancer activity in the developing brain. Sequencing this region in obese and lean cohorts revealed a higher prevalence of single nucleotide polymorphisms (SNPs) that were unique to obese individuals, with one variant reducing developmental-enhancer activity in zebrafish. In summary, we have characterized two brain enhancers in the SIM1 locus and identified a set of obesity-specific SNPs within one of them, which may predispose individuals to obesity.
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