Leptin signaling defects in a mouse model of Prader-Willi syndrome

References

• Flegal KM, Kit BK, Orpana H, Graubard BI. Association of all-cause mortality with overweight and obesity using standard body mass index categories: a systematic review and meta-analysis. JAMA 2013; 309:71 - 82; http://dx.doi.org/10.1001/jama.2012.113905; PMID: 23280227
   PubMed Web of Science ®Google Scholar
• Rokholm B, Silventoinen K, Tynelius P, Gamborg M, Sørensen TI, Rasmussen F. Increasing genetic variance of body mass index during the Swedish obesity epidemic. PLoS One 2011; 6:e27135; http://dx.doi.org/10.1371/journal.pone.0027135; PMID: 22087252
   PubMed Web of Science ®Google Scholar
• Dubois L, Ohm Kyvik K, Girard M, Tatone-Tokuda F, Pérusse D, Hjelmborg J, et al. Genetic and environmental contributions to weight, height, and BMI from birth to 19 years of age: an international study of over 12,000 twin pairs. PLoS One 2012; 7:e30153; http://dx.doi.org/10.1371/journal.pone.0030153; PMID: 22347368
   PubMed Web of Science ®Google Scholar
• Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, et al, Early Growth Genetics Consortium. A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet 2012; 44:526 - 31; http://dx.doi.org/10.1038/ng.2247; PMID: 22484627
   PubMed Web of Science ®Google Scholar
• Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, et al, Wellcome Trust Case Control Consortium, Genetic Investigation of ANthropometric Traits Consortium. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009; 41:25 - 34; http://dx.doi.org/10.1038/ng.287; PMID: 19079261
   PubMed Web of Science ®Google Scholar
• Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al, MAGIC, Procardis Consortium. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010; 42:937 - 48; http://dx.doi.org/10.1038/ng.686; PMID: 20935630
   PubMed Web of Science ®Google Scholar
• Kimber W, Peelman F, Prieur X, Wangensteen T, O’Rahilly S, Tavernier J, et al. Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. Endocrinology 2008; 149:6043 - 52; http://dx.doi.org/10.1210/en.2008-0544; PMID: 18703626
   PubMed Web of Science ®Google Scholar
• Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356:237 - 47; http://dx.doi.org/10.1056/NEJMoa063988; PMID: 17229951
   PubMed Web of Science ®Google Scholar
• Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387:903 - 8; http://dx.doi.org/10.1038/43185; PMID: 9202122
   PubMed Web of Science ®Google Scholar
• Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463:666 - 70; http://dx.doi.org/10.1038/nature08689; PMID: 19966786
   PubMed Web of Science ®Google Scholar
• Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, et al. A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nat Neurosci 2004; 7:1187 - 9; http://dx.doi.org/10.1038/nn1336; PMID: 15494731
   PubMed Web of Science ®Google Scholar
• van Vliet-Ostaptchouk JV, Hofker MH, van der Schouw YT, Wijmenga C, Onland-Moret NC. Genetic variation in the hypothalamic pathways and its role on obesity. Obes Rev 2009; 10:593 - 609; http://dx.doi.org/10.1111/j.1467-789X.2009.00597.x; PMID: 19712437
   PubMed Web of Science ®Google Scholar
• Morton GJ, Cummings DE, Baskin DG, Barsh GS, Schwartz MW. Central nervous system control of food intake and body weight. Nature 2006; 443:289 - 95; http://dx.doi.org/10.1038/nature05026; PMID: 16988703
   PubMed Web of Science ®Google Scholar
• Könner AC, Brüning JC. Selective insulin and leptin resistance in metabolic disorders. Cell Metab 2012; 16:144 - 52; http://dx.doi.org/10.1016/j.cmet.2012.07.004; PMID: 22883229
   PubMed Web of Science ®Google Scholar
• Mercer RE, Michaelson SD, Chee MJ, Atallah TA, Wevrick R, Colmers WF. Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. PLoS Genet 2013; 9:e1003207; http://dx.doi.org/10.1371/journal.pgen.1003207; PMID: 23341784
   PubMed Web of Science ®Google Scholar
• Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, et al. The imprinted gene Magel2 regulates normal circadian output. Nat Genet 2007; 39:1266 - 72; http://dx.doi.org/10.1038/ng2114; PMID: 17893678
   PubMed Web of Science ®Google Scholar
• Bischof JM, Stewart CL, Wevrick R. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum Mol Genet 2007; 16:2713 - 9; http://dx.doi.org/10.1093/hmg/ddm225; PMID: 17728320
   PubMed Web of Science ®Google Scholar
• Mercer RE, Kwolek EM, Bischof JM, van Eede M, Henkelman RM, Wevrick R. Regionally reduced brain volume, altered serotonin neurochemistry, and abnormal behavior in mice null for the circadian rhythm output gene Magel2. Am J Med Genet B Neuropsychiatr Genet 2009; 150B:1085 - 99; http://dx.doi.org/10.1002/ajmg.b.30934; PMID: 19199291
   PubMed Web of Science ®Google Scholar
• Mercer RE, Wevrick R. Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. PLoS One 2009; 4:e4291; http://dx.doi.org/10.1371/journal.pone.0004291; PMID: 19172181
   PubMed Web of Science ®Google Scholar
• Tennese AA, Wevrick R. Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice. Endocrinology 2011; 152:967 - 78; http://dx.doi.org/10.1210/en.2010-0709; PMID: 21248145
   PubMed Web of Science ®Google Scholar
• Mercer RE, Wevrick R. Energy homeostasis in Prader-Willi syndrome: how clinical research informs studies of animal models of genetic obesity: comment on “Nutritional phases in Prader-Willi syndrome,” Miller et al., 2011. Am J Med Genet Part A, 155:1040-1049. Am J Med Genet A 2012; 158A:966 - 8; http://dx.doi.org/10.1002/ajmg.a.35249; PMID: 22419655
   PubMed Web of Science ®Google Scholar
• Boccaccio I, Glatt-Deeley H, Watrin F, Roëckel N, Lalande M, Muscatelli F. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum Mol Genet 1999; 8:2497 - 505; http://dx.doi.org/10.1093/hmg/8.13.2497; PMID: 10556298
   PubMed Web of Science ®Google Scholar
• Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. Hum Mol Genet 2010; 19:4895 - 905; http://dx.doi.org/10.1093/hmg/ddq424; PMID: 20876615
   PubMed Web of Science ®Google Scholar
• Goldstone AP. The hypothalamus, hormones, and hunger: alterations in human obesity and illness. Prog Brain Res 2006; 153:57 - 73; http://dx.doi.org/10.1016/S0079-6123(06)53003-1; PMID: 16876568
   PubMed Web of Science ®Google Scholar
• Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012; 14:10 - 26; http://dx.doi.org/10.1038/gim.0b013e31822bead0; PMID: 22237428
   PubMed Web of Science ®Google Scholar
• Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 2011; 155A:1040 - 9; http://dx.doi.org/10.1002/ajmg.a.33951; PMID: 21465655
   PubMed Web of Science ®Google Scholar
• Ramachandrappa S, Farooqi IS. Genetic approaches to understanding human obesity. J Clin Invest 2011; 121:2080 - 6; http://dx.doi.org/10.1172/JCI46044; PMID: 21633175
   PubMed Web of Science ®Google Scholar
• Friedman JM. Leptin at 14 y of age: an ongoing story. Am J Clin Nutr 2009; 89:973S - 9S; http://dx.doi.org/10.3945/ajcn.2008.26788B; PMID: 19190071
   PubMed Web of Science ®Google Scholar
• Ranadive SA, Vaisse C. Lessons from extreme human obesity: monogenic disorders. Endocrinol Metab Clin North Am 2008; 37:733 - 51, x; http://dx.doi.org/10.1016/j.ecl.2008.07.003; PMID: 18775361
   PubMed Web of Science ®Google Scholar
• Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2012; 21:8 - 13; http://dx.doi.org/10.1038/ejhg.2012.115; PMID: 22713813
   PubMed Web of Science ®Google Scholar
• Holland A, Whittington J, Hinton E. The paradox of Prader-Willi syndrome: a genetic model of starvation. Lancet 2003; 362:989 - 91; http://dx.doi.org/10.1016/S0140-6736(03)14370-X; PMID: 14511934
   PubMed Web of Science ®Google Scholar
• Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, et al. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One 2008; 3:e1709; http://dx.doi.org/10.1371/journal.pone.0001709; PMID: 18320030
   PubMed Web of Science ®Google Scholar
• Bortolin-Cavaillé ML, Cavaillé J. The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs. Nucleic Acids Res 2012; 40:6800 - 7; http://dx.doi.org/10.1093/nar/gks321; PMID: 22495932
   PubMed Web of Science ®Google Scholar
• Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B. The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Hum Mol Genet 2012; 21:4038 - 48; http://dx.doi.org/10.1093/hmg/dds228; PMID: 22694955
   PubMed Web of Science ®Google Scholar
• Resnick JL, Nicholls RD, Wevrick R. Recommendations for the investigation of animal models of Prader-Willi Syndrome. Mamm Genome 2013; In press
   PubMed Web of Science ®Google Scholar
• Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, et al. Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Hum Mol Genet 2000; 9:1813 - 9; http://dx.doi.org/10.1093/hmg/9.12.1813; PMID: 10915770
   PubMed Web of Science ®Google Scholar
• Woods SC, D’Alessio DA. Central control of body weight and appetite. J Clin Endocrinol Metab 2008; 93:Suppl 1 S37 - 50; http://dx.doi.org/10.1210/jc.2008-1630; PMID: 18987269
   PubMed Web of Science ®Google Scholar
• Cowley MA, Smart JL, Rubinstein M, Cerdán MG, Diano S, Horvath TL, et al. Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus. Nature 2001; 411:480 - 4; http://dx.doi.org/10.1038/35078085; PMID: 11373681
   PubMed Web of Science ®Google Scholar
• Qiu J, Fang Y, Rønnekleiv OK, Kelly MJ. Leptin excites proopiomelanocortin neurons via activation of TRPC channels. J Neurosci 2010; 30:1560 - 5; http://dx.doi.org/10.1523/JNEUROSCI.4816-09.2010; PMID: 20107083
   PubMed Web of Science ®Google Scholar
• Balthasar N, Coppari R, McMinn J, Liu SM, Lee CE, Tang V, et al. Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis. Neuron 2004; 42:983 - 91; http://dx.doi.org/10.1016/j.neuron.2004.06.004; PMID: 15207242
   PubMed Web of Science ®Google Scholar
• Xu AW, Ste-Marie L, Kaelin CB, Barsh GS. Inactivation of signal transducer and activator of transcription 3 in proopiomelanocortin (Pomc) neurons causes decreased pomc expression, mild obesity, and defects in compensatory refeeding. Endocrinology 2007; 148:72 - 80; http://dx.doi.org/10.1210/en.2006-1119; PMID: 17023536
   PubMed Web of Science ®Google Scholar
• Davenport JR, Watts AJ, Roper VC, Croyle MJ, van Groen T, Wyss JM, et al. Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol 2007; 17:1586 - 94; http://dx.doi.org/10.1016/j.cub.2007.08.034; PMID: 17825558
   PubMed Web of Science ®Google Scholar
• MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet 1997; 6:1873 - 8; http://dx.doi.org/10.1093/hmg/6.11.1873; PMID: 9302265
   PubMed Web of Science ®Google Scholar
• Gérard M, Hernandez L, Wevrick R, Stewart CL. Disruption of the mouse necdin gene results in early post-natal lethality. Nat Genet 1999; 23:199 - 202; http://dx.doi.org/10.1038/13828; PMID: 10508517
   PubMed Web of Science ®Google Scholar
• Muscatelli F, Abrous DN, Massacrier A, Boccaccio I, Le Moal M, Cau P, et al. Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet 2000; 9:3101 - 10; http://dx.doi.org/10.1093/hmg/9.20.3101; PMID: 11115855
   PubMed Web of Science ®Google Scholar
• Ren J, Lee S, Pagliardini S, Gérard M, Stewart CL, Greer JJ, et al. Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. J Neurosci 2003; 23:1569 - 73; PMID: 12629158
   PubMed Web of Science ®Google Scholar
• Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, et al. Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mamm Genome 2005; 16:424 - 31; http://dx.doi.org/10.1007/s00335-005-2460-2; PMID: 16075369
   PubMed Web of Science ®Google Scholar