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Volumn 3, Issue NOV, 2012, Pages

Non-coding RNAs at the Gnas and Snrpn-Ube3a imprinted gene loci and their involvement in hereditary disorders

Author keywords

Angelman syndrome; Genomic imprinting; Gnas; Non coding RNA; Prader willisyndrome; Pseudohypoparathyroidism; Snrpn; Ube3a

Indexed keywords


EID: 84876126629     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2012.00264     Document Type: Article
Times cited : (8)

References (68)
  • 1
    • 80755187797 scopus 로고    scopus 로고
    • Genomic imprinting: a mammalian epigenetic discovery model
    • Barlow, D. P. (2011). Genomic imprinting: a mammalian epigenetic discovery model. Annu. Rev. Genet. 45, 379-403.
    • (2011) Annu. Rev. Genet. , vol.45 , pp. 379-403
    • Barlow, D.P.1
  • 2
    • 9144266313 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous micro deletion that likely disrupts a putative imprinting control element of GNAS
    • Bastepe, M., Fröhlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama,H.,et al. (2003).Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous micro deletion that likely disrupts a putative imprinting control element of GNAS. J. Clin. Invest. 112, 1255-1263.
    • (2003) J. Clin. Invest. , vol.112 , pp. 1255-1263
    • Bastepe, M.1    Fröhlich, L.F.2    Hendy, G.N.3    Indridason, O.S.4    Josse, R.G.5    Koshiyama, H.6
  • 3
    • 11244353640 scopus 로고    scopus 로고
    • Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    • Bastepe, M., Fröhlich, L. F., Linglart, A., Abu-Zahra, H. S., Tojo, K., Ward, L. 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.
    • (2005) Nat. Genet. , vol.37 , pp. 25-27
    • Bastepe, M.1    Fröhlich, L.F.2    Linglart, A.3    Abu-Zahra, H.S.4    Tojo, K.5    Ward, L.M.6
  • 5
    • 0034931032 scopus 로고    scopus 로고
    • The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
    • Bressler, J., Tsai, T. F., Wu, M. Y., Tsai, S. F., Ramirez, M. A., Armstrong, D., et al. (2001). The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat. Genet. 28, 232-240.
    • (2001) Nat. Genet. , vol.28 , pp. 232-240
    • Bressler, J.1    Tsai, T.F.2    Wu, M.Y.3    Tsai, S.F.4    Ramirez, M.A.5    Armstrong, D.6
  • 6
    • 77955888515 scopus 로고    scopus 로고
    • Prader-Willi syndrome and Angelman syndrome
    • Buiting, K. (2010). Prader-Willi syndrome and Angelman syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 154C, 365-376.
    • (2010) Am. J. Med. Genet. C Semin. Med. Genet. , vol.154 C , pp. 365-376
    • Buiting, K.1
  • 7
    • 79955936334 scopus 로고    scopus 로고
    • Effects of deficiency of the G protein Gsα on energy and glucose homeostasis
    • Chen, M., Nemechek, N. M., Mema, E., Wang, J., and Weinstein, L. S. (2011). Effects of deficiency of the G protein Gsα on energy and glucose homeostasis. Eur. J. Pharmacol. 660, 119-124.
    • (2011) Eur. J. Pharmacol. , vol.660 , pp. 119-124
    • Chen, M.1    Nemechek, N.M.2    Mema, E.3    Wang, J.4    Weinstein, L.S.5
  • 8
    • 66049136160 scopus 로고    scopus 로고
    • Central nervous system imprinting of the G protein G(s)α and its role in metabolic regulation
    • Chen, M., Wang, J., Dickerson, K. E., Kelleher, J., Xie, T., Gupta, D., et al. (2009). Central nervous system imprinting of the G protein G(s)α and its role in metabolic regulation. CellMetab. 9, 548-555.
    • (2009) CellMetab , vol.9 , pp. 548-555
    • Chen, M.1    Wang, J.2    Dickerson, K.E.3    Kelleher, J.4    Xie, T.5    Gupta, D.6
  • 9
    • 77955387253 scopus 로고    scopus 로고
    • Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis
    • Chillambhi, S., Turan, S., Hwang, D. Y., Chen, H. C, Jiippner, H., and Bastepe, M. (2010). Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J. Clin. Endocrinol Metab. 95, 3993-4002.
    • (2010) J. Clin. Endocrinol Metab. , vol.95 , pp. 3993-4002
    • Chillambhi, S.1    Turan, S.2    Hwang, D.Y.3    Chen, H.C.4    Jiippner, H.5    Bastepe, M.6
  • 10
    • 58149506281 scopus 로고    scopus 로고
    • Transcription is required for establishment of germline methylation marks at imprinted genes
    • Chotalia, M., Smallwood, S. A., Ruf, N., Dawson, C., Lucifero, D., Frontera, M., et al. (2009). Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev. 23, 105-117.
    • (2009) Genes Dev , vol.23 , pp. 105-117
    • Chotalia, M.1    Smallwood, S.A.2    Ruf, N.3    Dawson, C.4    Lucifero, D.5    Frontera, M.6
  • 11
    • 80053572392 scopus 로고    scopus 로고
    • Steroid receptor RNA activator bi-faceted genetic system: heads or tails?
    • Cooper, C., Vincett, D., Yan, Y., Hamedani, M. K., Myal, Y., and Leygue, E. (2011). Steroid receptor RNA activator bi-faceted genetic system: heads or tails? Biochimie 93, 1973-1980.
    • (2011) Biochimie , vol.93 , pp. 1973-1980
    • Cooper, C.1    Vincett, D.2    Yan, Y.3    Hamedani, M.K.4    Myal, Y.5    Leygue, E.6
  • 12
    • 77955351626 scopus 로고    scopus 로고
    • Retrotransposition and genomic imprinting
    • Cowley, M., and Oakey, R. J. (2010). Retrotransposition and genomic imprinting. Brief. Funct. Genomics 9, 340-346.
    • (2010) Brief. Funct. Genomics , vol.9 , pp. 340-346
    • Cowley, M.1    Oakey, R.J.2
  • 14
    • 68749097161 scopus 로고    scopus 로고
    • A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity, and hypogonadism
    • de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., Van Haelst, M. M., et al. (2009). A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity, and hypogonadism. Hum. Mol. Genet. 18,3257-3265.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 3257-3265
    • de Smith, A.J.1    Purmann, C.2    Walters, R.G.3    Ellis, R.J.4    Holder, S.E.5    Van Haelst, M.M.6
  • 15
    • 45849144806 scopus 로고    scopus 로고
    • SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice
    • doi:10.1371/journal.pone.0001709
    • Ding, F., Li, H. H., Zhang, S., Solomon, N. M., Camper, S. A., Cohen, P., et al. (2008). SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS ONE 3, e1709. doi:10.1371/journal.pone.0001709
    • (2008) PLoS ONE , vol.3
    • Ding, F.1    Li, H.H.2    Zhang, S.3    Solomon, N.M.4    Camper, S.A.5    Cohen, P.6
  • 16
    • 84857737967 scopus 로고    scopus 로고
    • Temporal and developmental requirements for the Prader-Willi imprinting center
    • DuBose, A. J., Smith, E. Y., Johnstone, K. A., and Resnick, J. L. (2012). Temporal and developmental requirements for the Prader-Willi imprinting center. Proc. Natl. Acad. Sci. U.S.A. 109, 3446-3450.
    • (2012) Proc. Natl. Acad. Sci. U.S.A. , vol.109 , pp. 3446-3450
    • DuBose, A.J.1    Smith, E.Y.2    Johnstone, K.A.3    Resnick, J.L.4
  • 17
    • 80051692364 scopus 로고    scopus 로고
    • A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center
    • DuBose, A. J., Smith, E. Y., Yang, T. P., Johnstone, K. A., and Resnick, J. L. (2011). A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center. Hum. Mol. Genet. 20, 3461-3466.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3461-3466
    • DuBose, A.J.1    Smith, E.Y.2    Yang, T.P.3    Johnstone, K.A.4    Resnick, J.L.5
  • 18
    • 77958486211 scopus 로고    scopus 로고
    • Paternally inherited microdeletion at 15q1 1 2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
    • Duker, A. L., Ballif, B. C., Bawle, E. V., Person, R. E., Mahadevan, S., Alliman, S., et al. (2010). Paternally inherited microdeletion at 15q1 1.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur. J. Hum. Genet. 18,1196-1201.
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 1196-1201
    • Duker, A.L.1    Ballif, B.C.2    Bawle, E.V.3    Person, R.E.4    Mahadevan, S.5    Alliman, S.6
  • 19
    • 84857169585 scopus 로고    scopus 로고
    • Newmutationsatthe imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling
    • Eaton, S. A., Williamson, C. M., Ball, S. T., Beechey, C. V., Moir, L., Edwards, J.,et al. (2012).Newmutationsatthe imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling. Mol. Cell. Biol. 32, 1017-1029.
    • (2012) Mol. Cell. Biol. , vol.32 , pp. 1017-1029
    • Eaton, S.A.1    Williamson, C.M.2    Ball, S.T.3    Beechey, C.V.4    Moir, L.5    Edwards, J.6
  • 20
    • 17144438935 scopus 로고    scopus 로고
    • The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    • Farber, C., Dittrich, B., Buiting, K., and Horsthemke, B. (1999). The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum. Mol. Genet. 8, 337-343.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 337-343
    • Farber, C.1    Dittrich, B.2    Buiting, K.3    Horsthemke, B.4
  • 21
    • 79960530899 scopus 로고    scopus 로고
    • Genomic imprinting: the emergence of an epigenetic paradigm
    • Ferguson-Smith, A. C. (2011). Genomic imprinting: the emergence of an epigenetic paradigm. Nat. Rev. Genet. 12, 565-575.
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 565-575
    • Ferguson-Smith, A.C.1
  • 22
    • 79960640801 scopus 로고    scopus 로고
    • Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?
    • Fernandez-Rebollo, E., Perez de Nanclares, G., Lecumberri, B., Turan, S., Anda, E., Perez-Nanclares, G., et al. (2011). Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J. Bone Miner. Res. 26,1854-1863.
    • (2011) J. Bone Miner. Res. , vol.26 , pp. 1854-1863
    • Fernandez-Rebollo, E.1    Perez de Nanclares, G.2    Lecumberri, B.3    Turan, S.4    Anda, E.5    Perez-Nanclares, G.6
  • 23
    • 77952701277 scopus 로고    scopus 로고
    • Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib
    • Fröhlich, L. F., Mrakovcic, M., Steinborn, R., Chung, U. I., Bastepe, M., and Jüppner, H. (2010). Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc. Natl. Acad. Sci. U.S.A. 107, 9275-9280.
    • (2010) Proc. Natl. Acad. Sci. U. S. A. , vol.107 , pp. 9275-9280
    • Fröhlich, L.F.1    Mrakovcic, M.2    Steinborn, R.3    Chung, U.I.4    Bastepe, M.5    Jüppner, H.6
  • 24
    • 0345062183 scopus 로고    scopus 로고
    • Disruption of the mouse necdin gene results in early postnatal lethality
    • Gerard, M., Hernandez, L., Wevrick, R., and Stewart, C. L. (1999). Disruption of the mouse necdin gene results in early postnatal lethality. Nat. Genet. 23, 199-202.
    • (1999) Nat. Genet. , vol.23 , pp. 199-202
    • Gerard, M.1    Hernandez, L.2    Wevrick, R.3    Stewart, C.L.4
  • 25
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • Hayward, B. E., and Bonthron, D. T. (2000). An imprinted antisense transcript at the human GNAS1 locus. Hum. Mol. Genet. 9, 835-841.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 835-841
    • Hayward, B.E.1    Bonthron, D.T.2
  • 26
    • 0030998512 scopus 로고    scopus 로고
    • Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    • Ischia, R., Lovisetti-Scamihorn, P., Hogue-Angeletti, R., Wolkersdorfer, M., Winkler, H., and 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.
    • (1997) J. Biol. Chem. , vol.272 , pp. 11657-11662
    • Ischia, R.1    Lovisetti-Scamihorn, P.2    Hogue-Angeletti, R.3    Wolkersdorfer, M.4    Winkler, H.5    Fischer-Colbrie, R.6
  • 27
    • 80053560943 scopus 로고    scopus 로고
    • Coding vs non-coding: translatability of short ORFs found in putative non-coding transcripts
    • Kageyama, Y., Kondo, T., and Hashimoto, Y. (2011). Coding vs non-coding: translatability of short ORFs found in putative non-coding transcripts. Biochimie 93, 1981-1986.
    • (2011) Biochimie , vol.93 , pp. 1981-1986
    • Kageyama, Y.1    Kondo, T.2    Hashimoto, Y.3
  • 28
    • 67649852539 scopus 로고    scopus 로고
    • Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain
    • Kaufman, Y., Heled, M., Perk, J., Razin, A., and Shemer, R. (2009). Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain. Proc. Natl. Acad. Sci. U.S.A. 106, 10242-10247.
    • (2009) Proc. Natl. Acad. Sci. U. S. A. , vol.106 , pp. 10242-10247
    • Kaufman, Y.1    Heled, M.2    Perk, J.3    Razin, A.4    Shemer, R.5
  • 29
    • 77955876027 scopus 로고    scopus 로고
    • Imprinting on chromosome 20 tissue-specific imprinting and imprinting mutations in the GNAS locus
    • Kelsey, G. (2010). Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. Am. J. Med. Genet. C Semin. Med. Genet. 154C, 377-386.
    • (2010) Am. J. Med. Genet. C Semin. Med. Genet. , vol.154 C , pp. 377-386
    • Kelsey, G.1
  • 31
    • 3042821931 scopus 로고    scopus 로고
    • Regulation of the large (approximately 1000 kb) imprinted murine Ube3a anti-sense transcript by alternative exons upstream of Snurf/Snrpn
    • Landers, M., Bancescu, D. L., Le Meur, E., Rougeulle, C., Glatt-Deeley, H., Brannan, C., et al. (2004). Regulation of the large (approximately 1000 kb) imprinted murine Ube3a anti-sense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 32, 3480-3492.
    • (2004) Nucleic Acids Res , vol.32 , pp. 3480-3492
    • Landers, M.1    Bancescu, D.L.2    Le Meur, E.3    Rougeulle, C.4    Glatt-Deeley, H.5    Brannan, C.6
  • 32
    • 26644449673 scopus 로고    scopus 로고
    • Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region
    • Le Meur, E., Watrin, F., Landers, M., Sturny, R., Lalande, M., and Muscatelli, E (2005). Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev. Biol. 286, 587-600.
    • (2005) Dev. Biol. , vol.286 , pp. 587-600
    • Le Meur, E.1    Watrin, F.2    Landers, M.3    Sturny, R.4    Lalande, M.5    Muscatelli, E.6
  • 33
    • 36248993369 scopus 로고    scopus 로고
    • Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epi-genetic changes at the GNAS locus
    • Linglart, A., Bastepe, M., and Jüppner, H. (2007). Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epi-genetic changes at the GNAS locus. Clin. Endocrinol. (Oxf) 67, 822-831.
    • (2007) Clin. Endocrinol. (Oxf) , vol.67 , pp. 822-831
    • Linglart, A.1    Bastepe, M.2    Jüppner, H.3
  • 34
    • 17644372378 scopus 로고    scopus 로고
    • A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS
    • Linglart, A., Gensure, R. C., Olney, R. C., Jüppner, H., and 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.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 804-814
    • Linglart, A.1    Gensure, R.C.2    Olney, R.C.3    Jüppner, H.4    Bastepe, M.5
  • 35
    • 17244363516 scopus 로고    scopus 로고
    • Identification of the control region for tissue-specific imprinting of the stimulatory G protein α-subunit
    • Liu, J., Chen, M., Deng, C., Bourc'his, D., Nealon, J. G., Erlichman, B., et al. (2005a). Identification of the control region for tissue-specific imprinting of the stimulatory G protein α-subunit. Proc. Natl. Acad. Sci. U.S.A. 102,5513-5518.
    • (2005) Proc. Natl. Acad. Sci. U. S. A. , vol.102 , pp. 5513-5518
    • Liu, J.1    Chen, M.2    Deng, C.3    Bourc'his, D.4    Nealon, J.G.5    Erlichman, B.6
  • 36
    • 12344293383 scopus 로고    scopus 로고
    • Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    • Liu, J., Nealon, J. G., and Weinstein, L. S. (2005b). Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum. Mol. Genet. 14,95-102.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 95-102
    • Liu, J.1    Nealon, J.G.2    Weinstein, L.S.3
  • 38
    • 0033865243 scopus 로고    scopus 로고
    • Identification of a methylation imprint mark within the mouse Gnas locus
    • Liu, J., Yu, S., Litman, D., Chen, W., and Weinstein, L. S. (2000b). Identification of a methylation imprint mark within the mouse Gnas locus. Mol. Cell.Biol. 20, 5808-5817.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 5808-5817
    • Liu, J.1    Yu, S.2    Litman, D.3    Chen, W.4    Weinstein, L.S.5
  • 39
    • 79957560791 scopus 로고    scopus 로고
    • Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
    • Mabb, A. M., Judson, M. C.,Zylka, M. J., and Philpot, B. D. (2011). Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 34, 293-303.
    • (2011) Trends Neurosci , vol.34 , pp. 293-303
    • Mabb, A.M.1    Judson, M.C.2    Zylka, M.J.3    Philpot, B.D.4
  • 40
    • 17744380972 scopus 로고    scopus 로고
    • MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
    • Makedonski, K., Abuhatzira, L., Kaufman, Y., Razin, A., and Shemer, R. (2005). MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum. Mol. Genet. 14,1049-1058.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1049-1058
    • Makedonski, K.1    Abuhatzira, L.2    Kaufman, Y.3    Razin, A.4    Shemer, R.5
  • 41
    • 80053495597 scopus 로고    scopus 로고
    • Clinical review: pseudohypoparathyroidism: diagnosis and treatment
    • Mantovani, G. (2011). Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J. Clin. Endocrinol. Metab. 96, 3020-3030.
    • (2011) J. Clin. Endocrinol. Metab. , vol.96 , pp. 3020-3030
    • Mantovani, G.1
  • 42
    • 76149108406 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients
    • Mantovani, G., de Sanctis, L., Barbieri, A. M., Elli, E M., Bollati, V., Vaira, V., et al. (2010). Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J. Clin. Endocrinol. Metab. 95,651-658.
    • (2010) J. Clin. Endocrinol. Metab. , vol.95 , pp. 651-658
    • Mantovani, G.1    de Sanctis, L.2    Barbieri, A.M.3    Elli, E.M.4    Bollati, V.5    Vaira, V.6
  • 43
    • 33645234839 scopus 로고    scopus 로고
    • Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
    • Mapendano, C. K., Kishino, T., Miyazaki, K., Kondo, S., Yoshiura, K., Hishikawa, Y., et al. (2006). Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain. J. Hum. Genet. 51,236-243.
    • (2006) J. Hum. Genet. , vol.51 , pp. 236-243
    • Mapendano, C.K.1    Kishino, T.2    Miyazaki, K.3    Kondo, S.4    Yoshiura, K.5    Hishikawa, Y.6
  • 44
  • 45
    • 78951484721 scopus 로고    scopus 로고
    • Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
    • Maupetit-Mehouas, S., Mariot, V., Reynes, C., Bertrand, G., Feillet, F., Carel, J. C., et al. (2011). Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J. Med. Genet. 48, 55-63.
    • (2011) J. Med. Genet. , vol.48 , pp. 55-63
    • Maupetit-Mehouas, S.1    Mariot, V.2    Reynes, C.3    Bertrand, G.4    Feillet, F.5    Carel, J.C.6
  • 46
    • 84863505435 scopus 로고    scopus 로고
    • Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
    • Meng, L., Person, R. E., and Beaudet, A. L. (2012). Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum. Mol. Genet. 21, 3001-3012.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 3001-3012
    • Meng, L.1    Person, R.E.2    Beaudet, A.L.3
  • 47
    • 0034642301 scopus 로고    scopus 로고
    • Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome
    • Muscatelli, F., Abrous, D. N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., et al. (2000). Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Mol. Genet. 9, 3101-3110.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 3101-3110
    • Muscatelli, F.1    Abrous, D.N.2    Massacrier, A.3    Boccaccio, I.4    Le Moal, M.5    Cau, P.6
  • 48
    • 34547725157 scopus 로고    scopus 로고
    • DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA
    • Ooi, S. K., Qiu, C., Bernstein, E., Li, K., Jia, D., Yang, Z., et al. (2007). DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Nature 448, 714-717.
    • (2007) Nature , vol.448 , pp. 714-717
    • Ooi, S.K.1    Qiu, C.2    Bernstein, E.3    Li, K.4    Jia, D.5    Yang, Z.6
  • 49
    • 84862495974 scopus 로고    scopus 로고
    • Mechanisms of long range silencing by imprinted macro non-coding RNAs
    • Pauler, E M., Barlow, D. P., and Hudson, Q. J. (2012). Mechanisms of long range silencing by imprinted macro non-coding RNAs. Curr. Opin. Genet. Dev. 22, 283-289.
    • (2012) Curr. Opin. Genet. Dev. , vol.22 , pp. 283-289
    • Pauler, E.M.1    Barlow, D.P.2    Hudson, Q.J.3
  • 50
    • 16244411099 scopus 로고    scopus 로고
    • Imprinted Nesp55 influences behavioral reactivity to novel environments
    • Plagge, A., Isles, A. R., Gordon, E., Humby, T., Dean, W., Gritsch, S., et al. (2005). Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol. Cell. Biol. 25, 3019-3026.
    • (2005) Mol. Cell. Biol. , vol.25 , pp. 3019-3026
    • Plagge, A.1    Isles, A.R.2    Gordon, E.3    Humby, T.4    Dean, W.5    Gritsch, S.6
  • 51
    • 39749100503 scopus 로고    scopus 로고
    • Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse
    • Plagge, A., Kelsey, G., and Germain-Lee, E. L. (2008). Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse. J. Endocrinol. 196, 193-214.
    • (2008) J. Endocrinol. , vol.196 , pp. 193-214
    • Plagge, A.1    Kelsey, G.2    Germain-Lee, E.L.3
  • 52
    • 84860805533 scopus 로고    scopus 로고
    • Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains
    • Rabinovitz, S., Kaufman, Y., Ludwig, G., Razin, A., and Shemer, R. (2012). Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains. Proc. Natl. Acad. Sci. U.S.A. 109, 7403-7408.
    • (2012) Proc. Natl. Acad. Sci. U. S. A. , vol.109 , pp. 7403-7408
    • Rabinovitz, S.1    Kaufman, Y.2    Ludwig, G.3    Razin, A.4    Shemer, R.5
  • 53
    • 84860747783 scopus 로고    scopus 로고
    • A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib
    • Richard, N., Abeguile, G., Coudray, N., Mittre, H., Gruchy, N., Andrieux, J., et al. (2012). A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J. Clin. Endocrinol. Metab. 97, E863-E867.
    • (2012) J. Clin. Endocrinol. Metab. , vol.97
    • Richard, N.1    Abeguile, G.2    Coudray, N.3    Mittre, H.4    Gruchy, N.5    Andrieux, J.6
  • 54
    • 0035509699 scopus 로고    scopus 로고
    • The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    • Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., and Buiting, K. (2001). The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet. 10, 2687-2700.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2687-2700
    • Runte, M.1    Huttenhofer, A.2    Gross, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 55
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., et al. (2008). Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 40, 719-721.
    • (2008) Nat. Genet. , vol.40 , pp. 719-721
    • Sahoo, T.1    del Gaudio, D.2    German, J.R.3    Shinawi, M.4    Peters, S.U.5    Person, R.E.6
  • 56
    • 37749004050 scopus 로고    scopus 로고
    • Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation
    • doi:10.1371/journal.pgen.0030235
    • Skryabin, B. V., Gubar, L. V., Seeger, B., Pfeiffer, J., Handel, S., Robeck, T., et al. (2007). Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genet. 3, e235. doi:10.1371/journal.pgen.0030235
    • (2007) PLoS Genet , vol.3
    • Skryabin, B.V.1    Gubar, L.V.2    Seeger, B.3    Pfeiffer, J.4    Handel, S.5    Robeck, T.6
  • 57
    • 84655164284 scopus 로고    scopus 로고
    • De novo DNA methylation: a germ cell perspective
    • Smallwood, S. A., and Kelsey, G. (2012). De novo DNA methylation: a germ cell perspective. Trends Genet. 28, 33-42.
    • (2012) Trends Genet , vol.28 , pp. 33-42
    • Smallwood, S.A.1    Kelsey, G.2
  • 58
    • 79960926264 scopus 로고    scopus 로고
    • Dynamic CpG island methylation landscape in oocytes and preim-plantation embryos
    • Smallwood, S. A., Tomizawa, S., Krueger, F., Ruf, N., Carli, N., Segonds-Pichon, A., et al. (2011). Dynamic CpG island methylation landscape in oocytes and preim-plantation embryos. Nat. Genet. 43, 811-814.
    • (2011) Nat. Genet. , vol.43 , pp. 811-814
    • Smallwood, S.A.1    Tomizawa, S.2    Krueger, F.3    Ruf, N.4    Carli, N.5    Segonds-Pichon, A.6
  • 59
    • 84855273820 scopus 로고    scopus 로고
    • Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus
    • doi:10.1371/journal.pgen.1002422
    • Smith, E. Y., Futtner, C. R., Chamberlain, S. J., Johnstone, K. A., and Resnick, J. L. (2011). Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. PLoS Genet. 7, e1002422. doi:10.1371/journal.pgen.1002422
    • (2011) PLoS Genet , vol.7
    • Smith, E.Y.1    Futtner, C.R.2    Chamberlain, S.J.3    Johnstone, K.A.4    Resnick, J.L.5
  • 60
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
    • Weinstein, L. S., Yu, S., Warner, D. R., and Liu, J. (2001). Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr. Rev. 22, 675-705.
    • (2001) Endocr. Rev. , vol.22 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 61
    • 79953733907 scopus 로고    scopus 로고
    • Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster
    • doi:10.1371/journal.pgen.1001347
    • Williamson, C. M., Ball, S. T., Dawson, C.,Mehta,S.,Beechey,C.V.,Fray,M., et al. (2011). Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster. PLoS Genet. 7, e1001347. doi:10.1371/journal.pgen.1001347
    • (2011) PLoS Genet , vol.7
    • Williamson, C.M.1    Ball, S.T.2    Dawson, C.3    Mehta, S.4    Beechey, C.V.5    Fray, M.6
  • 62
    • 3543006557 scopus 로고    scopus 로고
    • A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas
    • Williamson, C. M., Ball, S. T., Nottingham, W. T., Skinner, J. A., Plagge, A., Turner, M. D., et al. (2004). A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat. Genet. 36, 894-899.
    • (2004) Nat. Genet. , vol.36 , pp. 894-899
    • Williamson, C.M.1    Ball, S.T.2    Nottingham, W.T.3    Skinner, J.A.4    Plagge, A.5    Turner, M.D.6
  • 63
    • 0036146828 scopus 로고    scopus 로고
    • Alternative non-coding splice variants of Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster
    • Williamson, C. M., Skinner, J. A., Kelsey, G., and Peters, J. (2002). Alternative non-coding splice variants of Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster. Mamm. Genome 13,74-79.
    • (2002) Mamm. Genome , vol.13 , pp. 74-79
    • Williamson, C.M.1    Skinner, J.A.2    Kelsey, G.3    Peters, J.4
  • 64
    • 33644617486 scopus 로고    scopus 로고
    • Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
    • Williamson, C. M., Turner, M. D., Ball, S. T., Nottingham, W T., Glenister, P., Fray, M., et al. (2006). Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat. Genet. 38, 350-355.
    • (2006) Nat. Genet. , vol.38 , pp. 350-355
    • Williamson, C.M.1    Turner, M.D.2    Ball, S.T.3    Nottingham, W.T.4    Glenister, P.5    Fray, M.6
  • 65
    • 0034724290 scopus 로고    scopus 로고
    • An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
    • Wroe, S. F., Kelsey, G., Skinner, J. A., Bodle,D., Ball,S. T.,Beechey,C.V.,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. U.S.A. 97, 3342-3346.
    • (2000) Proc. Natl. Acad. Sci. U. S. A. , vol.97 , pp. 3342-3346
    • Wroe, S.F.1    Kelsey, G.2    Skinner, J.A.3    Bodle, D.4    Ball, S.T.5    Beechey, C.V.6
  • 66
    • 0242432463 scopus 로고    scopus 로고
    • Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
    • Yamasaki, K., Joh, K., Ohta, T., Masuzaki, H., Ishimaru, T., Mukai, T., et al. (2003). Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum. Mol. Genet. 12, 837-847.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 837-847
    • Yamasaki, K.1    Joh, K.2    Ohta, T.3    Masuzaki, H.4    Ishimaru, T.5    Mukai, T.6
  • 67
    • 79960640986 scopus 로고    scopus 로고
    • Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus
    • Zazo, C., Thiele, S., Martin, C., Fernandez-Rebollo, E., Martinez-Indart, L., Werner, R., et al. (2011). Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. J. Bone Miner. Res. 26, 1864-1870.
    • (2011) J. Bone Miner. Res. , vol.26 , pp. 1864-1870
    • Zazo, C.1    Thiele, S.2    Martin, C.3    Fernandez-Rebollo, E.4    Martinez-Indart, L.5    Werner, R.6
  • 68
    • 77954126183 scopus 로고    scopus 로고
    • Chromatin methylation activity of Dnmt3a and Dnmt3a/3L is guided by interaction of the ADD domain with the histone H3 tail
    • Zhang, Y., Jurkowska, R., Soeroes, S., Rajavelu, A., Dhayalan, A., Bock, I., et al. (2010). Chromatin methylation activity of Dnmt3a and Dnmt3a/3L is guided by interaction of the ADD domain with the histone H3 tail. Nucleic Acids Res. 38, 4246-4253.
    • (2010) Nucleic Acids Res , vol.38 , pp. 4246-4253
    • Zhang, Y.1    Jurkowska, R.2    Soeroes, S.3    Rajavelu, A.4    Dhayalan, A.5    Bock, I.6


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