Epigenetic Properties and Identification of an Imprint Mark in the Nesp-Gnasxl Domain of the Mouse Gnas Imprinted Locus

REFERENCES

• Arnaud, P., D. Monk, M. Hitchins, E. Gordon, W. Dean, C. V. Beechey, J. Peters, W. Craigen, M. Preece, P. Stanier, G. E. Moore, G. E., and G. Kelsey. 2003. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum. Mol. Genet. 12: 1005–1019.
   PubMedGoogle Scholar
• Ball, S. T., C. M. Williamson, C. Hayes, T. Hacker, and J. Peters. 2001. The spatial and temporal expression pattern of Nesp and its antisense Nespas, in mid-gestation mouse embryos. Mech. Dev. 100: 79–81.
   PubMed Web of Science ®Google Scholar
• Bastepe, M., J. E. Pincus, T. Sugimoto, K. Tojo, M. Kanatani, Y. Azuma, K. Kruse, A. L. Rosenbloom, H. Koshiyama, and H. Jüppner. 2001. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type 1b 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.
   PubMedGoogle Scholar
• Bell, A. C., and G. Felsenfeld. 2000. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 405: 482–485.
   PubMed Web of Science ®Google Scholar
• Benson, G. 1999. Tandem Repeats Finder: a program to analyze DNA sequences. Nucleic Acids Res. 15: 573–580.
   Google Scholar
• Bourc'his, D., G.-L. Xu, C.-S. Lin, B. Bollman, and T. H. Bestor. 2001. Dnmt3L and the establishment of maternal genomic imprints. Science 294: 2536–2539.
   PubMed Web of Science ®Google Scholar
• Cattanach, B. M., and M. Kirk. 1985. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315: 496–498.
   PubMed Web of Science ®Google Scholar
• Davies, S. J., and H. E. Hughes. 1993. Imprinting of Albright's hereditary osteodystrophy. J. Med. Genet. 30: 101–103.
   PubMedGoogle Scholar
• Feil, R., M. D. Boyano, N. D. Allen, and G. Kelsey. 1997. Parental chromosome-specific chromatin conformation in the imprinted U2af1-rs1 gene in the mouse. J. Biol. Chem. 272: 20893–20900.
   PubMedGoogle Scholar
• Feil, R., and S. Khosla. 1999. Genomic imprinting in mammals: an interplay between chromatin and DNA methylation? Trends Genet. 15: 431–435.
   PubMedGoogle Scholar
• Fitzpatrick, G. V., P. D. Soloway, and M. J. Hughes. 2002. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of. KvDMR1. Nat. Genet. 32: 426–431.
   PubMed Web of Science ®Google Scholar
• Fournier, C., Y. Goto, E. Ballestar, K. Delaval, A. M. Hever, M. Esteller, and R. Feil. 2002. Allele-specific histone lysine methylation marks regulatory regions at imprinted mouse genes. EMBO J. 21: 6560–6570.
   PubMed Web of Science ®Google Scholar
• Germain-Lee, E. L., C. L. Ding, Z. Deng, J. L. Crane, M. Saji, M. D. Ringel, and M. A. Levine. 2002. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem. Biophys. Res. Commun. 296: 67–72.
   PubMedGoogle Scholar
• Hark, A. T., C. J. Schoenherr, D. J. Katz, R. S. Ingram, J. M. Levorse, and S. M. Tilghman. 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405: 486–489.
   PubMed Web of Science ®Google Scholar
• Hata, K., M. Okano, H. Lee, and E. Li. 2002. Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. Development 129: 1983–1993.
   PubMed Web of Science ®Google Scholar
• Hayward, B. E., A. Barlier, M. Korbonits, A. B. Grossman, P. Jacquet, A. Enjalbert, and D. T. Bonthron. 2001. Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly. J. Clin. Investig. 107: R31–R36.
   PubMed Web of Science ®Google Scholar
• Hayward, B. E., and D. T. Bonthron. 2000. An imprinted antisense transcript at the human GNAS1 locus. Hum. Mol. Genet. 9: 835–841.
   PubMed Web of Science ®Google Scholar
• Hayward, B. E., M. Kamiya, L. Strain, V. Moran, R. Campbell, Y. Hayashizaki, and D. T. Bonthron. 1998. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl. Acad. Sci. 95: 10038–10043.
   PubMedGoogle Scholar
• Hayward, B. E., V. Moran, L. Strain, and D. T. Bonthron. 1998. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc. Natl. Acad. Sci. 95: 15475–15480.
   PubMedGoogle Scholar
• Hogan, B., R. Beddington, F. Costantini, and E. Lacy. 1994. Manipulating the mouse embryo: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
   Google Scholar
• Ischia, R., P. Lovisetti-Scamihorn, R. Hogue-Angeletti, M. Wolkersdorfer, H. Winkler, and R. Fisher-Colbrie. 1997. Molecular cloning and characterisation of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J. Biol. Chem. 272: 11657–11662.
   PubMedGoogle Scholar
• Judson, H., B. E. Hayward, E. Sheridan, and D. T. Bonthron. 2002. A global disorder of imprinting in the human female germ line. Nature 416: 539–542.
   PubMed Web of Science ®Google Scholar
• Kehlenbach, R. H., J. Matthey, and W. B. Huttner. 1994. XLαs is a new type of G protein. Nature 372: 804–809.
   PubMedGoogle Scholar
• Kelsey, G., D. Bodle, H. J. Miller, C. V. Beechey, C. Coombes, J. Peters, and C. M. Williamson. 1999. Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 62: 129–138.
   PubMedGoogle Scholar
• Khosla, S., A. Aitchison, R. Gregory, N. D. Allen, and R. Feil. 1999. Parental allele-specific chromatin configuration in a boundary-imprinting-control element upstream of the mouse H19 gene. Mol. Cell. Biol. 19: 2556–2566.
   PubMedGoogle Scholar
• Kim, J., A. Kollhoff, A. Bergmann, and L. Stubbs. 2003. Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene Peg3. Hum. Mol. Genet. 12: 233–245.
   PubMed Web of Science ®Google Scholar
• Li, T., T. H. Vu, Z.-L. Zeng, B. T. Nguyen, B. E. Hayward, D. T. Bonthron, J.-F. Hu, and A. R Hoffman. 2000. Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics 69: 295–304.
   PubMedGoogle Scholar
• Liu, J., D. Litman, M. J. Rosenberg, S. Yu, L. G. Biesecker, and L. S. Weinstein. 2000. A GNAS1 imprinting defect in pseudohypoparathyroidism type 1B. J. Clin. Investig. 106: 1167–1174.
   PubMedGoogle Scholar
• Liu, J., S. Yu, D. Litman, W. Chen, and L. S. Weinstein. 2000. Identification of a methylation imprint mark within the mouse Gnas locus. Mol. Cell. Biol. 20: 5808–5817.
   PubMed Web of Science ®Google Scholar
• Mantovani, G., E. Ballare, E. Giammona, P. Beck-Peccoz, and A. Spada. 2002. The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J. Clin. Endocrin. Metab. 87: 4736–4740.
   PubMed Web of Science ®Google Scholar
• Morison, I. M., C. J. Paton, and S. D. Cleverley. 2001. The imprinted gene and parent-of-origin effect database. Nucleic Acids Res. 29: 275–276.
   PubMed Web of Science ®Google Scholar
• Neumann, B., P. Kubicka, and D. P. Barlow. 1995. Characteristics of imprinted genes. Nat. Genet. 9: 12–13.
   PubMed Web of Science ®Google Scholar
• Okamura, K., Y. Hagiwara-Takeuchi, T. Li, T. H. Vu, M. Hirai, M. Hattori, Y. Sakaki, A. R. Hoffman, and T. Ito. 2000. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT: toward the structural basis for species-specific imprinting. Genome Res. 10: 1878–1889.
   PubMed Web of Science ®Google Scholar
• Pearsall, R. S., C. Plass, M. A. Romano, M. D. Garrick, H. Shibata, Y. Hayashizaki, and W. A. Held. 1999. A direct repeat sequence at the Rasgrf1 locus and imprinted expression. Genomics 55: 194–201.
   PubMedGoogle Scholar
• Perk, J., K. Makedonski, L. Lande, H. Cedar, A. Razin, and R. Shemer. 2002. The imprinting mechanism of the Prader-Willi/Angelman regional control center. EMBO J. 21: 5807–5814.
   PubMed Web of Science ®Google Scholar
• Peters, J., C. V. Beechey, S. T. Ball, and E. P. Evans. 1994. Mapping studies of the distal imprinting region of mouse chromosome 2. Genet. Res. 63: 169–174.
   PubMedGoogle Scholar
• Peters, J., S. F. Wroe, C. A. Wells, H. J. Miller, D. Bodle, C. V. Beechey, C. M. Williamson, C. M. Williamson, and G. Kelsey. 1999. A cluster of novel oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc. Natl. Acad. Sci. 96: 3830–3835.
   PubMedGoogle Scholar
• Reed, M. R., A. D. Riggs, and J. R. Mann. 2001. Deletion of a direct repeat element has no effect on Igf2 and H19 imprinting. Mamm. Genome 12: 873–876.
   PubMedGoogle Scholar
• Reik, W., and J. Walter. 2001. Genomic imprinting: parental influence on the genome. Nat. Rev. Genet. 2: 21–32.
   PubMed Web of Science ®Google Scholar
• Reinhart, B., M. Eljanne, and J. R. Chaillet. 2002. Shared role for differentially methylated domains of imprinted genes. Mol. Cell. Biol. 22: 2089–2098.
   PubMedGoogle Scholar
• Shibata, H., Y. Yoda, R. Kato, T. Ueda, M. Kamiya, N. Hiraiwa, A. Yoshiki, C. Plass, R. S. Pearsall, W. A. Held, M. Muramatsu, H. Sasaki, M. Kusakabe, and Y. Hayashizaki. 1998. A methylation imprint mark in the mouse imprinted gene Grf1/Cdc25Mm locus shares a common feature with the U2afbp-rs gene: an association with a short tandem repeat and a hypermethylated region. Genomics 49: 30–37.
   PubMedGoogle Scholar
• Sleutels, F., and D. P. Barlow. 2001. Investigation of elements sufficient to imprint the mouse Air promoter. Mol. Cell. Biol. 21: 5008–5017.
   PubMedGoogle Scholar
• Sleutels, F., and D. P. Barlow. 2002. The origins of genomic imprinting in mammals. Adv. Genet. 46: 119–163.
   PubMedGoogle Scholar
• Smith, R. J., P. Arnaud, G. Konfortova, W. L. Dean, C. V. Beechey, C. V. Beechey, and G. Kelsey. 2002. The mouse Zac1 locus: basis for imprinting and comparison with human ZAC. Gene 292: 101–112.
   PubMedGoogle Scholar
• Stüger, R., P. Kubicka, C.-G. Liu, T. Kafri, A. Razin, H. Cedar, and D. P. Barlow. 1993. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73: 61–71.
   PubMedGoogle Scholar
• Sunahara, S., K. Nakamura, K. Nakao, Y. Gondo, Y. Kagata, and M. Katsuki. 2000. The oocyte-specific methylated region of the U2afbp-rs/U2af1-rs1 gene is dispensible for its imprinted methylation. Biochem. Biophys. Res. Commun. 268: 590–595.
   PubMedGoogle Scholar
• Szabó, P. E., G. P. Pfeifer, and J. R. Mann. 1998. Characterization of novel parent-specific epigenetic modifications upstream of the imprinted mouse H19 gene. Mol. Cell. Biol. 18: 6767–6776.
   PubMedGoogle Scholar
• Thorvaldsen, J. L., K. L. Duran, and M. S. Bartolomei. 1998. Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and. Igf2. Genes Dev. 12: 3693–3702.
   PubMed Web of Science ®Google Scholar
• Thorvaldsen, J. L., M. R. W. Mann, O. Nwoko, K. L. Duran, and M. S. Bartolomei. 2002. Analysis of sequence upstream of the endogenous H19 gene reveals elements both essential and dispensable for imprinting. Mol. Cell. Biol. 22: 2450–2462.
   PubMedGoogle Scholar
• Tremblay, K. D., J. R. Saam, R. S. Ingram, S. M. Tilghman, and M. S. Bartolomei. 1995. A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. Nat. Genet. 9: 407–413.
   PubMed Web of Science ®Google Scholar
• Tycko, B., and I. M. Morison. 2002. Physiological functions of imprinted genes. J. Cell. Physiol. 192: 245–258.
   PubMedGoogle Scholar
• Weinstein, L. S., S. Yu, D. R. Warner, and J. Liu. 2001. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr. Rev. 22: 675–705.
   PubMedGoogle Scholar
• Williamson, C. M., C. V. Beechey, S. T. Ball, E. R. Dutton, B. M. Cattanach, C. Tease, F. Ishino, and J. Peters. 1998. Localisation of the imprinted gene neuronatin, Nnat, confirms and refines the location of a second imprinting region on mouse chromosome 2. Cytogenet. Cell. Genet. 81: 73–78.
   PubMedGoogle Scholar
• Williamson, C. M., J. A. Skinner, G. Kelsey, G. Kelsey, and J. Peters. 2002. Alternative non-coding splice variants of to Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster. Mamm. Genome 13: 74–79.
   PubMedGoogle Scholar
• Wroe, S. F., G. Kelsey, J. A. Skinner, D. Bodle, S. T. Ball, C. V. Beechey, J. Peters, and C. M. Williamson. 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.
   PubMed Web of Science ®Google Scholar
• Wutz, A., O. W. Smrzka, N. Schweifer, K. Schellander, E. F. Wagner, and D. P. Barlow. 1997. Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389: 745–749.
   PubMed Web of Science ®Google Scholar
• Wylie, A. A., S. K. Murphy, T. C. Orton, and R. L. Jirtle. 2000. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in Igf2/H19 regulation. Genome Res. 10: 1711–1718.
   PubMed Web of Science ®Google Scholar
• Yates, P. A., R. W. Burman, P. Mummanemi, S. Krussel, and M. S. Turker. 1999. Tandem B1 elements located in a mouse methylation center provide a target for de novo DNA methylation. J. Biol. Chem. 274: 36357–36361.
   PubMedGoogle Scholar
• Yatsuki, H., K. Joh, K. Higashimoto, H. Soejima, Y. Arai, Y. Wang, H. Hatada, Y. Obata, H. Morisaki, Z. Zhang, T. Nakgawachi, Y. Satoh, and T. Mukai. 2002. Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region. Genome Res. 12: 1860–1870.
   PubMed Web of Science ®Google Scholar
• Yoon, B., J., H. Herman, A. Sikora, L. T. Smith, C. Plass, and P. D. Soloway. 2002. Regulation of DNA methylation of Rasgrf1. Nat. Genet. 30: 92–96.
   PubMed Web of Science ®Google Scholar
• Yu, S., D. Yu, E. Lee, M. Eckhaus, R. Lee, Z. Corria, D. Accili, H. Westphal, and L. S. Weinstein. 1998. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc. Natl. Acad. Sci. USA 95: 8715–8720.
   PubMed Web of Science ®Google Scholar
• Zwart, R., F. Sleutels, A. Wutz, A. H. Schinkel, and D. P. Barlow. 2001. Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes. Genes Dev. 15: 2361–2366.
   PubMedGoogle Scholar