Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster

Nature Genetics

Volumn 38, Issue 3, 2006, Pages 350-355

  Williamson, Christine M ^a   Turner, Martin D ^a   Ball, Simon T ^a   Nottingham, Wade T ^a,c   Glenister, Peter ^a   Fray, Martin ^a   Tymowska Lalanne, Zuzanna ^a   Plagge, Antonius ^b   Powles Glover, Nicola ^a   Kelsey, Gavin ^b   Maconochie, Mark ^a,d   Peters, Jo ^a  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b BABRAHAM INSTITUTE   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; EXON; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENOME IMPRINTING; METHYLATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; TISSUE SPECIFICITY;

ANIMALS; DNA METHYLATION; EXONS; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; MALE; MICE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; RNA, ANTISENSE; RNA, UNTRANSLATED; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 33644617486     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1731     Document Type: Article

References (30)

1. Cattanach, B.M. & Kirk, M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315, 496-498 (1985).
2. Spahn, L. & Barlow, D.P. An ICE pattern crystallizes. Nat. Genet. 35, 11-12 (2003).
3. Williamson, C. M. et al. A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat. Genet. 36, 894-899 (2004).
4. Weinstein, L.S., Liu, J., Sakamoto, A., Xie, T. & Chen, M. Minireview: GNAS: normal and abnormal functions. Endocrinology 145, 5459-5464 (2004).
5. Peters, J. et al. 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 (1999).
6. Kelsey, G. et al. Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 62, 129-138 (1999).
7. Liu, J., Yu, S., Litman, D., Chen, W. & Weinstein, L.S. Identification of a methylation imprint mark within the mouse Gnas locus. Mol. Cell. Biol. 20, 5808-5817 (2000).
8. Ischia, R. et al. 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 (1997).
9. Kehlenbach, R.H., Matthey, J. & Huttner, W.B. XLαs is a new type of G protein. Nature 372, 804-808 (1994).
10. sα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc. Natl. Acad. Sci. USA 95, 8715-8720 (1998).
11. Wroe, S.F. et al. 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 (2000).
12. s G protein, is significantly longer than suspected, and so is its companion Alex. Proc. Natl. Acad. Sci. USA 101, 8366-8371 (2004).
13. Williamson, C.M., Skinner, J.A., Kelsey, G. & Peters, J. Alternative non-coding splice variants of Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster. Mamm. Genome 13, 74-79 (2002).
14. Coombes, C. et al. 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 (2003).
15. Liu, J. et al. Identification of the control region for tissue-specific imprinting of the stimulatory G protein α-subunit. Proc. Natl. Acad. Sci. USA 102, 5513-5518 (2005).
16. Wutz, A. et al. Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389, 745-749 (1997).
17. Fitzpatrick, G.V., Soloway, P.D. & Higgins, M.J. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat. Genet. 32, 426-431 (2002).
18. Li, T. et al. Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics 69, 295-304 (2000).
19. Judson, H., Hayward, B.E., Sheridan, E. & Bonthron, D.T. A global disorder of imprinting in the human female germ line. Nature 416, 539-542 (2002).
20. Liu, J., Nealon, J.G. & Weinstein, L.S. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum. Mol. Genet. 14, 95-102 (2005).
21. Plagge, A. et al. The imprinted signalling protein XLαs is required for postnatal adaptation to feeding. Nat. Genet. 36, 818-826 (2004).
22. Skinner, J.A., Cattanach, B.M. & Peters, J. The imprinted oedematous-small mutation on mouse chromosome 2 identifies new roles for Gnas and Gnasxl in development. Genomics 80, 373-375 (2002).
23. Cattanach, B.M., Peters, J., Ball, S. & Rasberry, C. Two imprinted gene mutations: three phenotypes. Hum. Mol. Genet. 9, 2263-2273 (2000).
24. Liu, J. et al. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J. Clin. Invest. 106, 1167-1174 (2000).
25. Sleutels, F., Zwart, R. & Barlow, D.P. The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature 415, 810-813 (2002).
26. Bastepe, M. et al. 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 (2003).
27. Bastepe, M. et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat. Genet. 37, 25-27 (2004).
28. Moore, T. & Haig, D. Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet. 7, 45-49 (1991).
29. Rivera-Perez, J.A., Mallo, M., Gendron-Maguire, M., Gridley, T. & Behringer, R.R. Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development 121, 3005-3012 (1995).
30. Bock, C. et al. BiQ Analyser: visualisation and quality control for DNA methylation data from bisulphite sequencing. Bioinformatics 21, 4067-4068 (2005).