Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-lb

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 20, 2010, Pages 9275-9280

  Fröhlich, Leopold F ^a,b,c   Mrakovcic, Maria ^b   Steinborn, Ralf ^b   Chung, Ung Il ^a,d   Bastepe, Murat ^a   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF VETERINARY MEDICINE   (Austria)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Genomic imprinting; Gs ; Hormonal resistance; Parathyroid hormone; Pseudohypoparathyroidism

Indexed keywords

CALCIUM ION; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; MESSENGER RNA; PARATHYROID HORMONE; PHOSPHORUS;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CALCIUM BLOOD LEVEL; CONTROLLED STUDY; EXON; EXON NESP55; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE TARGETING; GENETIC TRANSCRIPTION; GENOME IMPRINTING; GNAS GENE; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SECONDARY HYPERPARATHYROIDISM;

ANIMALS; DNA METHYLATION; GENE DELETION; GENE EXPRESSION REGULATION; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INHERITANCE PATTERNS; MICE; PSEUDOHYPOPARATHYROIDISM; SEQUENCE DELETION;

ANIMALIA; MURINAE; MUS;

EID: 77952701277     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0910224107     Document Type: Article

References (34)

1. Morison IM, Ramsay JP, Spencer HG (2005) A census of mammalian imprinting. Trends Genet 21:457-465.
2. Renfree MB, Hore TA, Shaw G, Graves JA, Pask AJ (2009) Evolution of genomic imprinting: insights from marsupials and monotremes. Annu Rev Genomics Hum Genet 10:241-262.
3. Bastepe M, Jüppner H (2005) Pseudohypoparathyroidism, Gs {alpha}, and the GNAS locus. IBMS BoneKEy 2:20-32.
4. Spiegel AM, Weinstein LS (2004) Inherited diseases involving g proteins and g protein-coupled receptors. Annu Rev Med 55:27-39. (Pubitemid 38316714)
5. Weinstein LS, Xie T, Zhang QH, Chen M (2007) Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology. Pharmacol Ther 115:271-291. (Pubitemid 47042911)
6. Plagge A, Kelsey G, Germain-Lee EL (2008) Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol 196:193-214. (Pubitemid 351298506)
7. Hayward BE, et al. (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. (Pubitemid 29018723)
9. Peters J, et al. (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. (Pubitemid 29168996)
10. Wroe SF, et al. (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.
11. Hayward BE, Bonthron DT (2000) An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841.
12. Peters J, et al. (2006) Imprinting control within the compact Gnas locus. Cytogenet Genome Res 113:194-201.
13. de Nanclares GP, et al. (2007) Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373.
14. Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A (2008) A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. J Clin Endocrinol Metab 93:661-665. (Pubitemid 351398535)
15. Bastepe M, Jüppner H (2005) GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74.
16. Bastepe M, et al. (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. (Pubitemid 38056302)
17. Linglart A, Gensure RC, Olney RC, Jüppner H, BastepeM(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.
18. Bastepe M, et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37:25-27. (Pubitemid 40070935)
19. Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H (2007) Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology 148:2925-2935.
20. Coombes C, et al. (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. (Pubitemid 36951317)
21. Cattanach BM, KirkM(1985) Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498.
22. 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. (Pubitemid 30613030)
23. Liu J, et al. (2000) A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 106:1167-1174.
24. Bastepe M, et al. (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 imprinted GNAS1 locus. Hum Mol Genet 10:1231-1241. (Pubitemid 32600477)
25. Linglart A, BastepeM, 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. (Pubitemid 350135123)
26. Bastepe M, Lane AH, Jüppner H (2001) Paternal uniparental isodisomy of chromosome 20q - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289. (Pubitemid 32424427)
27. Yu S, et al. (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. (Pubitemid 28350554)
28. Weinstein LS, Yu S, Ecelbarger CA (2000) Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron. Am J Physiol Renal Physiol 278:F507-F514. (Pubitemid 30215228)
29. Peery EG, Elmore MD, Resnick JL, Brannan CI, Johnstone KA (2007) A targeted deletion upstream of Snrpn does not result in an imprinting defect. Mamm Genome 18:255-262.
30. Williamson CM, et al. (2006) Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat Genet 38:350-355.
31. Williamson CM, et al. (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet 36:894-899.
32. Chotalia M, et al. (2009) Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23:105-117.
33. Ideraabdullah FY, Vigneau S, Bartolomei MS (2008) Genomic imprinting mechanisms in mammals. Mutat Res 647:77-85.
34. Bunting M, Bernstein KE, Greer JM, Capecchi MR, Thomas KR (1999) Targeting genes for self-excision in the germ line. Genes Dev 13:1524-1528. (Pubitemid 29297920)