Maternal inheritance of the Gnas cluster mutation Ex1A-T affects size, implicating NESP55 in growth

Mammalian Genome

Volumn 24, Issue 7-8, 2013, Pages 276-285

  Eaton, Sally A ^a,d   Hough, Tertius ^b   Fischer Colbrie, Reiner ^c   Peters, Jo ^a  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b Medical Research Council Harwell Institute   (United Kingdom)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GUANINE NUCLEOTIDE BINDING PROTEIN; NEUROENDOCRINE SPECIFIC PROTEIN; PROTEIN NESP55; THREONINE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; BODY SIZE; BODY WEIGHT; CONTROLLED STUDY; DEVELOPMENTAL GENE; DOWN REGULATION; EXON; EXON1A GENE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE CLUSTER; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GNAS GENE; GROWTH CURVE; HETEROZYGOTE; HOMOZYGOTE; MALE; MOUSE; NESP55 GENE; NONHUMAN; PHENOTYPE; PRENATAL PERIOD; PROTEIN EXPRESSION;

ANIMALS; BODY SIZE; BONE DENSITY; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; INHERITANCE PATTERNS; MALE; MICE; MICE, TRANSGENIC; PHENOTYPE;

EID: 84883054708     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-013-9462-2     Document Type: Article

References (36)

1. Bartolomucci A, Possenti R, Mahata SK, Fischer-Colbrie R, Loh YP, Salton SR (2011) The extended granin family: structure, function, and biomedical implications. Endocr Rev 32:755-797
2. Bauer R, Ischia R, Marksteiner J, Kapeller I, Fischer-Colbrie R (1999) Localization of neuroendocrine secretory protein 55 messenger RNA in the rat brain. Neuroscience 91:685-694
3. Cattanach BM, Peters J, Ball S, Rasberry C (2000) Two imprinted gene mutations: three phenotypes. Hum Mol Genet 9:2263-2273
4. Charalambous M, da Rocha ST, Ferguson-Smith AC (2007) Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life. Curr Opin Endocrinol Diabetes Obes 14:3-12
5. Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, Nackers LM, Lorenzo J, Shen L, Weinstein LS (2005) Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci USA 102:7386-7391
6. Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D, Lai EW, Pacak K, Gavrilova O, Weinstein LS (2009) Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab 9:548-555
7. Chotalia M, Smallwood SA, Ruf N, Dawson C, Lucifero D, Frontera M, James K, Dean W, Kelsey G (2009) Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23:105-117
8. de Bovis B, Derouet D, Gauchat JF, Elson G, Gascan H, Delapeyriere O (2005) clc is co-expressed with clf or cntfr in developing mouse muscles. Cell Commun Signal 3:1
9. Di Giammartino DC, Nishida K, Manley JL (2011) Mechanisms and consequences of alternative polyadenylation. Mol Cell 43:853-866
10. Eaton SA, Williamson CM, Ball ST, Beechey CV, Moir L, Edwards J, Teboul L, Maconochie M, Peters J (2012) New mutations at the imprinted Gnas cluster show gene dosage effects of Gsalpha in postnatal growth and implicate XLalphas in bone and fat metabolism but not in suckling. Mol Cell Biol 32:1017-1029
11. Eder S, Leierer J, Klimaschewski L, Wilhelm A, Volknandt W, Laslop A, Fischer-Colbrie R (2004) Secretion and molecular forms of NESP55, a novel genomically imprinted neuroendocrine-specific protein from AtT-20 cells. Neurosignals 13:298-307
12. Fischer-Colbrie R, Eder S, Lovisetti-Scamihorn P, Becker A, Laslop A (2002) Neuroendocrine secretory protein 55: a novel marker for the constitutive secretory pathway. Ann N Y Acad Sci 971:317-322
13. Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA (2005) A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146:4697-4709
14. Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R (1997) Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 272:11657-11662
15. Ishida M, Moore GE (2013) The role of imprinted genes in humans. Mol Aspects Med 34(4):826-840
16. Kelly ML, Moir L, Jones L, Whitehill E, Anstee QM, Goldin RD, Hough A, Cheeseman M, Jansson JO, Peters J, Cox RD (2009) A missense mutation in the non-neural G-protein alpha-subunit isoforms modulates susceptibility to obesity. Int J Obes (Lond) 33:507-518
17. Kelsey G, Bodle D, Miller HJ, Beechey CV, Coombes C, Peters J, Williamson CM (1999) Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 62:129-138
18. Liu J, Yu S, Litman D, Chen W, Weinstein LS (2000) Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 20:5808-5817
19. Ludwig T, Eggenschwiler J, Fisher P, D'Ercole AJ, Davenport ML, Efstratiadis A (1996) Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev Biol 177:517-535
20. Moore T, Haig D (1991) Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 7:45-49
21. Peters J, Williamson CM (2007) Control of imprinting at the Gnas cluster. Epigenetics 2:207-213
22. Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G (1999) A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 96:3830-3835
23. Pinto PA, Henriques T, Freitas MO, Martins T, Domingues RG, Wyrzykowska PS, Coelho PA, Carmo AM, Sunkel CE, Proudfoot NJ, Moreira A (2011) RNA polymerase II kinetics in polo polyadenylation signal selection. EMBO J 30:2431-2444
24. Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J, Kelsey G (2004) The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nat Genet 36:818-826
25. Plagge A, Isles AR, Gordon E, Humby T, Dean W, Gritsch S, Fischer-Colbrie R, Wilkinson LS, Kelsey G (2005) Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol Cell Biol 25:3019-3026
26. Smith FM, Garfield AS, Ward A (2006) Regulation of growth and metabolism by imprinted genes. Cytogenet Genome Res 113:279-291
27. Smith FM, Holt LJ, Garfield AS, Charalambous M, Koumanov F, Perry M, Bazzani R, Sheardown SA, Hegarty BD, Lyons RJ, Cooney GJ, Daly RJ, Ward A (2007) Mice with a disruption of the imprinted Grb10 gene exhibit altered body composition, glucose homeostasis, and insulin signaling during postnatal life. Mol Cell Biol 27:5871-5886
28. Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M (2004) Minireview: GNAS: normal and abnormal functions. Endocrinology 145:5459-5464
29. Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, Powles N, Hough T, Papworth D, Fraser WD, Maconochie M, Peters J (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet 36:894-899
30. Williamson CM, Ball ST, Dawson C, Mehta S, Beechey CV, Fray M, Teboul L, Dear TN, Kelsey G, Peters J (2011) Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster. PLoS Genet 7:e1001347
31. Wroe SF, Kelsey G, Skinner JA, Bodle D, Ball ST, Beechey CV, Peters J, Williamson CM (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci USA 97:3342-3346
32. Xie T, Plagge A, Gavrilova O, Pack S, Jou W, Lai EW, Frontera M, Kelsey G, Weinstein LS (2006) The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J Biol Chem 281:18989-18999
33. Xie T, Chen M, Gavrilova O, Lai EW, Liu J, Weinstein LS (2008) Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region. Endocrinology 149:2443-2450
34. Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS (1998) Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the Gsalpha gene. Proc Natl Acad Sci USA 95:8715-8720
35. Yu S, Gavrilova O, Chen H, Lee R, Liu J, Pacak K, Parlow AF, Quon MJ, Reitman ML, Weinstein LS (2000) Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism. J Clin Invest 105:615-623
36. Yu M, Sha H, Gao Y, Zeng H, Zhu M, Gao X (2006) Alternative 3′UTR polyadenylation of Bzw1 transcripts display differential translation efficiency and tissue-specific expression. Biochem Biophys Res Commun 345:479-485