Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome

International Journal of Developmental Neuroscience

Volumn 30, Issue 6, 2012, Pages 479-485

  Zhang, Qian ^a   Bouma, Gerrit J ^a   McClellan, Kristy ^b   Tobet, Stuart ^a  

^a Department of Environmental and Radiological Health Sciences   (United States)

^b BUENA VISTA UNIVERSITY   (United States)

Author keywords

Hypothalamus; Mouse; Postnatal development; Prader Willi syndrome (PWS); SnoRNA Snord116

Indexed keywords

SMALL NUCLEOLAR RNA;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARCUATE NUCLEUS; ARTICLE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE LOCATION; GENETIC LINKAGE; GENOMIC IN SITU HYBRIDIZATION; HYPERPHAGIA; HYPOTHALAMIC PARAVENTRICULAR NUCLEUS; HYPOTHALAMUS VENTROMEDIAL NUCLEUS; IMMUNOREACTIVITY; MALE; MOUSE; NEWBORN; NONHUMAN; OBESITY; PATHOGENESIS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA GENE; SEX DIFFERENCE; SNORD116 GENE;

ANIMALS; ANIMALS, NEWBORN; CEREBRAL CORTEX; EMBRYO, MAMMALIAN; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HYPOTHALAMUS; MALE; MICE; RNA, SMALL NUCLEOLAR;

MUS;

EID: 84865863393     PISSN: 07365748     EISSN: 1873474X     Source Type: Journal    
DOI: 10.1016/j.ijdevneu.2012.05.005     Document Type: Article

References (49)

1. Bachellerie J.P., Cavaillé J., Hüttenhofer A. The expanding snoRNA world. Biochimie 2002, 84(8):775-790.
2. Bouret S.G., Draper S.J., Simerly R.B. Trophic action of leptin on hypothalamic neurons that regulate feeding. Science 2004, 304(5667):108-110.
3. Bouret S.G., Simerly R.B. Developmental programming of hypothalamic feeding circuits. Clinical Genetics 2006, 70(4):295-301.
4. Bouret S.G. Early life origins of obesity: role of hypothalamic programming. Journal of Pediatric Gastroenterology and Nutrition 2009, 48(Suppl. 1):S31L 8.
5. Brameier M., Herwig A., Reinhardt R., Walter L., Gruber J. Human box C/D snoRNAs with miRNA like functions: expanding the range of regulatory RNAs. Nucleic Acids Research 2011, 39(2):675-686.
6. Bürger J., Horn D., Tönnies H., Neitzel H., Reis A. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. American Journal of Medical Genetics 2002, 111(3):233-237.
7. Butler M.G., Hanchett J.M., Thompson T.E. Clinical findings and natural history of PWS. Managment of Prader-Willi Syndrome 2006, 3-48. Springer. M.G. Butler, P.D.K. Lee, B.Y. Whitman (Eds.).
8. Caqueret A., Yang C., Duplan S., Boucher F., Michaud J.L. Looking for trouble: a search for developmental defects of the hypothalamus. Hormone Research 2005, 64(5):222-230.
9. Cavaillé J., Buiting K., Kiefmann M., Lalande M., Brannan C.I., Horsthemke B., Bachellerie J.P., Brosius J., Hüttenhofer A. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proceedings of the National Academy of Sciences of the United States of America 2000, 97(26):14311-14316.
10. de los Santos T., Schweizer J., Rees C.A., Francke U. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain. American Journal of Human Genetics 2000, 67(5):1067-1082.
11. de Smith A.J., Purmann C., Walters R.G., Ellis R.J., Holder S.E., Van Haelst M.M., Brady A.F., Fairbrother U.L., Dattani M., Keogh J.M., Henning E., Yeo G.S., O'Rahilly S., Froguel P., Farooqi I.S., Blakemore A.I. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Human Molecular Genetics 2009, 18(17):3257-3265.
12. Dellovade T.L., Young M., Ross E.P., Henderson R., Caron K., Parker K., Tobet S.A. Disruption of the gene encoding SF-1 alters the distribution of 5 hypothalamic neuronal phenotypes. Journal of Comparative Neurology 2000, 423:579-589.
13. Ding F., Prints Y., Dhar M.S., Johnson D.K., Garnacho-Montero C., et al. Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mammalian Genome 2005, 16:424-431.
14. Ding F., Li H.H., Zhang S., Solomon N.M., Camper S.A., Cohen P., Francke U. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS ONE 2008, 3(3):e1709.
15. Ding F., Li H.H., Li J., Myers R.M., Francke U. Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice. PLoS ONE 2010, 5(February (2)):e9402.
16. Doe C.M., Relkovic D., Garfield A.S., Dalley J.W., Theobald D.E., Humby T., Wilkinson L.S., Isles A.R. Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour. Human Molecular Genetics 2009, 18(12):2140-2148.
17. Duker A.L., Ballif B.C., Bawle E.V., Person R.E., Mahadevan S., Alliman S., Thompson R., Traylor R., Bejjani B.A., Shaffer L.G., Rosenfeld J.A., Lamb A.N., Sahoo T. Paternally inherited microdeletion at 15q11. 2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. European Journal of Human Genetics 2010, 18(11):1196-1201.
18. Flomen R., Knight J., Sham P., Kerwin R., Makoff A. Evidence that RNA editing modulates splice site selection in the 5-HT2C receptor gene. Nucleic Acids Research 2004, 32(7):2113-2122.
19. Gallagher R.C., Pils B., Albalwi M., Francke U. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. American Journal of Human Genetics 2002, 71(3):669-678.
20. Gerard M., Hernandez L., Wevrick R., Stewart C.L. Disruption of the mouse necdin gene results in early post-natal lethality. Nature Genetics 1999, 23:199-202.
21. Gunay-Aygun M., Schwartz S., Heeger S., O'Riordan M.A., Cassidy S.B. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001, 108(5):E92.
22. Hochberg I., Hochberg Z. Expanding the definition of hypothalamic obesity. Obesity Reviews 2010, 11(10):709-721.
23. Holm V.A., Cassidy S.B., Butler M.G., Hanchett J.M., Greenswag L.R., Whitman B.Y., Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993, 91(2):398-402.
24. Kishore S., Stamm S. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 2006, 311(5758):230-232.
25. Kozlov S.V., Bogenpohl J.W., Howell M.P., Wevrick R., Panda S., et al. The imprinted gene Magel2 regulates normal circadian output. Nature Genetics 2007, 39:1266-1272.
26. Lee S., Walker C.L., Wevrick R. Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain. Gene Expression Patterns 2003, 3(5):599-609.
27. Lenz K.M., Nugent B.M., McCarthy M.M. Sexual differentiation of the rodent brain: dogma and beyond. Front Neuroscience 2012, 6:26.
28. Leung K.N., Vallero R.O., DuBose A.J., Resnick J.L., LaSalle J.M. Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Human Molecular Genetics 2009, 18(22):4227-4238.
29. Li X., Jin P. Roles of small regulatory RNAs in determining neuronal identity. Nature Reviews Neuroscience 2010, 11(5):329-338.
30. Mattick J.S. The functional genomics of noncoding RNA. Science 2005, 309(5740):1527-1528.
31. McAllister C.J., Whittington J.E., Holland A.J. Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding. International Journal of Obesity (London) 2011, 35(2):188-197.
32. McClellan K.M., Parker K.L., Tobet S. Development of the ventromedial nucleus of the hypothalamus. Frontiers in Neuroendocrinology 2006, 27(2):193-209.
33. McClellan K.M., Stratton M.S., Tobet S.A. Roles for gamma-aminobutyric acid in the development of the paraventricular nucleus of the hypothalamus. Journal of Comparative Neurology 2010, 518(14):2710-2728.
34. Morton G.J., Cummings D.E., Baskin D.G., Barsh G.S., Schwartz M.W. Central nervous system control of food intake and body weight. Nature 2006, 443(7109):289-295.
35. Nicholls R.D. Incriminating gene suspects, Prader-Willi style. Nature Genetics 1999, 23:132-134.
36. Pinto S., Roseberry A.G., Liu H., Diano S., Shanabrough M., Cai X., Friedman J.M., Horvath T.L. Rapid rewiring of arcuate nucleus feeding circuits by leptin. Science 2004, 304(5667):110-115.
37. Runte M., Varon R., Horn D., Horsthemke B., Buiting K. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Human Genetics 2005, 116(February (3)):228-230.
38. Sahoo T., del Gaudio D., German J.R., Shinawi M., Peters S.U., Person R.E., Garnica A., Cheung S.W., Beaudet A.L. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics 2008, 40(6):719-721.
39. Schmittgen T.D., Livak K.J. Analyzing real-time PCR data by the comparative C(T) method. Nature Protocols 2008, 3(6):1101-1108.
40. Schratt G. Fine-tuning neural gene expression with microRNAs. Current Opinion in Neurobiology 2009, 19(2):213-219.
41. Schule B., Albalwi M., Northrop E., Francis D.I., Rowell M., et al. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Medical Genetics 2005, 6:18.
42. Shimogori T., Lee D.A., Miranda-Angulo A., Yang Y., Wang H., Jiang L., Yoshida A.C., Kataoka A., Mashiko H., Avetisyan M., Qi L., Qian J., Blackshaw S. A genomic atlas of mouse hypothalamic development. Nature Neuroscience 2010, 13(6):767-775.
43. Skryabin B.V., Gubar L.V., Seeger B., Pfeiffer J., Handel S., Robeck T., Karpova E., Rozhdestvensky T.S., Brosius J. Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genetics 2007, 3(12):e235.
44. Swaab D.F., Bao A.M., Lucassen P.J. The stress system in the human brain in depression and neurodegeneration. Ageing Research Reviews 2005, 4(2):141-194.
45. Swaab D.F. Prader-Willi syndrome and the hypothalamus. Acta Paediatrica. Supplement 1997, 423:50-54.
46. Tobet S., Knoll J.G., Hartshorn C., Aurand E., Stratton M., Kumar P., Searcy B., McClellan K. Brain sex differences and hormone influences: a moving experience?. Journal of Neuroendocrinology 2009, 21(4):387-392.
47. Tsai T.F., Armstrong D., Beaudet A.L. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nature Genetics 1999, 22:15-16.
48. Vitali P., Basyuk E., Le Meur E., Bertrand E., Muscatelli F., Cavaillé J., Huttenhofer A. ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. Journal of Cell Biology 2005, 169(5):745-753.
49. Yang T., Adamson T.E., Resnick J.L., Leff S., Wevrick R., et al. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genetics 1998, 19:25-31.