Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

Journal of Clinical Investigation

Volumn 123, Issue 7, 2013, Pages 3037-3041

  Bonnefond, Amélie ^a,b   Raimondo, Anne ^c   Stutzmann, Fanny ^a,b   Ghoussaini, Maya ^a,b,d   Ramachandrappa, Shwetha ^d   Bersten, David C ^c   Durand, Emmanuelle ^a,b   Vatin, Vincent ^a,b   Balkau, Beverley ^e,f   Lantieri, Olivier ^g   Raverdy, Violeta ^a,b,h   Pattou, François ^a,b,h,i   Van Hul, Wim ^j   Van Gaal, Luc ^k   Peet, Daniel J ^c   Weill, Jacques ⁱ   Miller, Jennifer L ^l   Horber, Fritz ^m,n   Goldstone, Anthony P ^l,o   Driscoll, Daniel J ^l   Bruning, John B ^c   Meyre, David ^a,b,p,r   Whitelaw, Murray L ^c   Froguel, Philippe ^a,b,q   more..

^a INSTITUT PASTEUR DE LILLE   (France)

^b UNIV LILLE   (France)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

^f UNIVERSITÉ PARIS SACLAY   (France)

^g Institut Inter Regional Pour la Sante   (France)

^h INSERM   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

^j UNIVERSITY OF ANTWERP   (Belgium)

^k ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^l UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^m Landesspital   (Liechtenstein)

ⁿ UNIVERSITY OF BERN   (Switzerland)

^o HAMMERSMITH HOSPITAL   (United Kingdom)

^p MCMASTER UNIVERSITY   (Canada)

^q IMPERIAL COLLEGE LONDON   (United Kingdom)

^r MCMASTER UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; MEMBRANE PROTEIN; SIM1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHILDHOOD DISEASE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MORBID OBESITY; OBESITY; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; REPORTER GENE; RISK ASSESSMENT; SUBSTITUTION REACTION;

ADULT; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENES, REPORTER; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; INFANT; LUCIFERASES; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; OBESITY, MORBID; PRADER-WILLI SYNDROME; REPRESSOR PROTEINS; TRANSCRIPTIONAL ACTIVATION; YOUNG ADULT;

EID: 84879681783     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI68035     Document Type: Article

References (17)

1. Michaud JL, Rosenquist T, May NR, Fan CM. Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1. Genes Dev. 1998;12(20):3264-3275. (Pubitemid 28496270)
2. Michaud JL, et al. Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet. 2001;10(14):1465-1473. (Pubitemid 32684888)
3. Holder JL Jr, et al. Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab. 2004;287(1):E105-E113.
4. Yang C, et al. Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake. J Neurosci. 2006;26(26):7116-7120. (Pubitemid 44309878)
5. Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Eur J Paediatr Neurol. 2000;4(1):39-43. (Pubitemid 30090217)
6. Bonaglia MC, et al. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet. 2008;16(12):1443-1449.
7. Holder JL Jr, Butte NF, Zinn AR. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000;9(1):101-108. (Pubitemid 30145294)
8. Ahituv N, et al. Medical sequencing at the extremes of human body mass. Am J Hum Genet. 2007;80(4):779-791. (Pubitemid 46564414)
9. Hung CC, et al. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. Int J Obes (Lond). 2007;31(3):429-434.
10. Michaud JL, DeRossi C, May NR, Holdener BC, Fan CM. ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus. Mech Dev. 2000;90(2):253-261. (Pubitemid 30042930)
11. Woods SL, Whitelaw ML. Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors. J Biol Chem. 2002;277(12):10236-10243. (Pubitemid 34968138)
12. Huang N, et al. Crystal structure of the heterodimeric CLOCK:BMAL1 transcriptional activator complex. Science. 2012;337(6091):189-194.
13. Ramachandrappa S, et al. Rare variants in single-minded 1 (SIM1) are associated with severe obesity. J Clin Invest. 2013;123(7):3042-3050.
14. Jay P, et al. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet. 1997;17(3):357-361. (Pubitemid 27476006)
15. Friedman ER, Fan CM. Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription. Biochem Biophys Res Commun. 2007;363(1):113-118. (Pubitemid 47430102)
16. Stutzmann F, et al. Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet. 2007;16(15):1837-1844. (Pubitemid 47244532)
17. Saeed S, Butt TA, Anwer M, Arslan M, Froguel P. High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. Mol Genet Metab. 2012;106(1):121-126.