Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 8, 2010, Pages 3993-4002

  Chillambhi, Smitha ^a   Turan, Serap ^a,b   Hwang, Daw Yang ^c   Chen, Hung Chun ^c   Jüppner, Harald ^a   Bastepe, Murat ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MARMARA UNIVERSITY   (Turkey)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PARATHYROID HORMONE; RNA;

ALLELE; ARTICLE; CONTROLLED STUDY; EPIGENETICS; EXON; FAMILY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENOME IMPRINTING; HETEROZYGOTE; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; METHYLATION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PARESTHESIA; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; TELOMERE; TERTIARY HEALTH CARE; VERTICAL TRANSMISSION;

EID: 77955387253     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2205     Document Type: Article

References (37)

1. Ideraabdullah FY, Vigneau S, Bartolomei MS 2008 Genomic imprinting mechanisms in mammals. Mutat Res 647:77-85
2. Kelsey G 2007 Genomic imprinting: roles and regulation in development. Endocr Dev 12:99-112
3. Edwards CA, Ferguson-Smith AC 2007 Mechanisms regulating imprinted genes in clusters. Curr Opin Cell Biol 19:281-289
4. Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M 2004 GNAS: normal and abnormal functions. Endocrinology 145:5459-5464
5. Peters J, Williamson CM 2008 Control of imprinting at the Gnas cluster. Adv Exp Med Biol 626:16-26
6. Hayward BE, Bonthron DT 2000 An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841
7. Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95:10038-10043
8. Hayward BE, Moran V, Strain L, Bonthron DT 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:15475-15480
9. 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
10. 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
11. Kehlenbach RH, Matthey J, Huttner WB 1994 XLαs is a new type of G protein. Nature [Erratum (1995) 375:253] 372:804-809
12. 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
13. Abramowitz J, Grenet D, Birnbaumer M, Torres HN, Birnbaumer L 2004 XLαs, the extra-long form of the α-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex. Proc Natl Acad Sci USA 101:8366-8371
14. Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, Bastepe M 2009 Extralarge XLαs (XXLαs), a variant of stimulatory G protein α-subunit (Gsα), is a distinct, membrane-anchored GNAS product that can mimic Gsα. Endocrinology 150:3567-3575
15. Klemke M, Kehlenbach RH, Huttner WB 2001 Two overlapping reading frames in a single exon encode interacting proteins: a novel way of gene usage. EMBO J 20:3849-3860
16. 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
17. Coombes C, Arnaud P, Gordon E, Dean W, Coar EA, Williamson CM, Feil R, Peters J, Kelsey G 2003 Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus. Mol Cell Biol 23:5475-5488
18. 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
19. Liu J, Chen M, Deng C, Bourc'his D, Nealon JG, Erlichman B, Bestor TH, Weinstein LS 2005 Identification of the control region for tissue-specific imprinting of the stimulatoryGprotein α-subunit. Proc Natl Acad Sci USA 102:5513-5518
20. Williamson CM, Turner MD, Ball ST, Nottingham WT, Glenister P, Fray M, Tymowska-Lalanne Z, Plagge A, Powles-Glover N, Kelsey G, Maconochie M, Peters J 2006 Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat Genet 38:350-355
21. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS 2000 A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 106:1167-1174
22. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H 2001 Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprintedGNAS1 locus.HumMol Genet 10:1231-1241
23. Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA 2003 Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 73:314-322
24. Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A 2007 Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 92:3738-3742
25. de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M 2007 Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373
26. Linglart A, Bastepe M, Jüppner H 2007 Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf) 67:822-831
27. Liu J, Nealon JG, Weinstein LS 2005 Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet 14:95-102
28. Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M 2005 A Novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 76:804-814
29. Laspa E, Bastepe M, Jüppner H, Tsatsoulis A 2004 Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. J Clin Endocrinol Metab 89:5942-5947
30. Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112:1255-1263
31. Mahmud FH, Linglart A, Bastepe M, Jüppner H, Lteif AN 2005 Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics 115:e242-e244
32. Bastepe M, Lane AH, Jüppner H 2001 Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289
33. Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H 2005 Deletion of the NESP55 differentially methylated region causes loss of maternalGNAS imprints and pseudohypoparathyroidism type-Ib. Nat Genet 37:25-37
34. Li LC, Dahiya R 2002 MethPrimer: designing primers for methylation PCRs. Bioinformatics 18:1427-1431
35. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI 2004 Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci USA 101:14794-14799
36. Muller PY, Janovjak H, Miserez AR, Dobbie Z 2002 Processing of gene expression data generated by quantitative real-time RT-PCR. Biotechniques 32:1372-1374, 1376, 1378-1379
37. 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