메뉴 건너뛰기




Volumn 24, Issue 11, 2016, Pages 1617-1621

Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DLK1 PROTEIN, HUMAN; IODIDE PEROXIDASE; IODOTHYRONINE DEIODINASE TYPE III; MEMBRANE PROTEIN; MESSENGER RNA; SIGNAL PEPTIDE;

EID: 84975520851     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.66     Document Type: Article
Times cited : (17)

References (24)
  • 1
    • 0035234557 scopus 로고    scopus 로고
    • Genomic imprinting: Parental influence on the genome
    • Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2: 21-32.
    • (2001) Nat Rev Genet , vol.2 , pp. 21-32
    • Reik, W.1    Walter, J.2
  • 2
    • 0033972883 scopus 로고    scopus 로고
    • The hows and whys of imprinting
    • Kelsey G. The hows and whys of imprinting. Trends Genet 2000; 16: 15-16.
    • (2000) Trends Genet , vol.16 , pp. 15-16
    • Kelsey, G.1
  • 3
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in the parental origin of the deletion
    • Knoll JH, Nicholls RD, Magenis RE, Graham Jr JM, Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in the parental origin of the deletion. Am J Med Genet 1989; 32: 285-290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3    Graham, J.M.4    Lalande, M.5    Latt, S.A.6
  • 4
    • 0033975096 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome: Imprinting in clusters revisited
    • Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000; 105: 247-252.
    • (2000) J Clin Invest , vol.105 , pp. 247-252
    • Maher, E.R.1    Reik, W.2
  • 5
    • 0033838266 scopus 로고    scopus 로고
    • Genomic imprinting, uniparental disomy and foetal growth
    • Preece MA, Moore GE. Genomic imprinting, uniparental disomy and foetal growth. Trends Endocrinol Metab 2000; 11: 270-275.
    • (2000) Trends Endocrinol Metab , vol.11 , pp. 270-275
    • Preece, M.A.1    Moore, G.E.2
  • 6
    • 0033665434 scopus 로고    scopus 로고
    • Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation
    • Wylie AA, Murphy SK, Orton TC, Jirtle RL. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Res 2000; 10: 1711-1718.
    • (2000) Genome Res , vol.10 , pp. 1711-1718
    • Wylie, A.A.1    Murphy, S.K.2    Orton, T.C.3    Jirtle, R.L.4
  • 7
    • 51549093979 scopus 로고    scopus 로고
    • Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    • Buiting K, Kanber D, Martin-Subero JI, et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat 2008; 29: 1141-1146.
    • (2008) Hum Mutat , vol.29 , pp. 1141-1146
    • Buiting, K.1    Kanber, D.2    Martin-Subero, J.I.3
  • 9
    • 73949156905 scopus 로고    scopus 로고
    • Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype
    • Hosoki K, Kagami M, Tanaka T, et al. Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. J Pediatr 2009; 155: 900-903e1.
    • (2009) J Pediatr , vol.155 , pp. 900-903e1
    • Hosoki, K.1    Kagami, M.2    Tanaka, T.3
  • 10
    • 0037162286 scopus 로고    scopus 로고
    • Genomic Imprinting contributes to thyroid hormone metabolism in the mouse embryo
    • Tsai CE, Lin SP, Ito M, Takagi N, Takada S, Ferguson-Smith AC. Genomic Imprinting contributes to thyroid hormone metabolism in the mouse embryo. Curr Biol 2002; 12: 1221-1226.
    • (2002) Curr Biol , vol.12 , pp. 1221-1226
    • Tsai, C.E.1    Lin, S.P.2    Ito, M.3    Takagi, N.4    Takada, S.5    Ferguson-Smith, A.C.6
  • 11
    • 0036827952 scopus 로고    scopus 로고
    • The gene locus encoding iodothyronine deiodinase type 3 (Dio3) is imprinted in the fetus and expresses antisense transcripts
    • Hernandez A, Fiering S, Martinez E, Galton VA, St Germain D. The gene locus encoding iodothyronine deiodinase type 3 (Dio3) is imprinted in the fetus and expresses antisense transcripts. Endocrinology 2002; 143: 4483-4486.
    • (2002) Endocrinology , vol.143 , pp. 4483-4486
    • Hernandez, A.1    Fiering, S.2    Martinez, E.3    Galton, V.A.4    St Germain, D.5
  • 12
    • 33846977748 scopus 로고    scopus 로고
    • Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region
    • Lin SP, Coan P, da Rocha ST, et al. Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region. Development 2007; 134: 417-426.
    • (2007) Development , vol.134 , pp. 417-426
    • Lin, S.P.1    Coan, P.2    Da Rocha, S.T.3
  • 13
    • 17744368034 scopus 로고    scopus 로고
    • Hot-stop PCR: A simple and general assay for linear quantitation of allele ratios [erratum appears in
    • Nat Genet 2000; 25: 375-376
    • Uejima H, Lee MP, Cui H, Feinberg AP. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. [erratum appears in Nat Genet 2001; 28(1): 97]. Nat Genet 2000; 25: 375-376.
    • (2001) Nat Genet , vol.28 , Issue.1 , pp. 97
    • Uejima, H.1    Lee, M.P.2    Cui, H.3    Feinberg, A.P.4
  • 14
    • 35448945645 scopus 로고    scopus 로고
    • Sonic hedgehog-induced type 3 deiodinase blocks thyroid hormone action enhancing proliferation of normal and malignant keratinocytes
    • Dentice M, Luongo C, Huang S, et al. Sonic hedgehog-induced type 3 deiodinase blocks thyroid hormone action enhancing proliferation of normal and malignant keratinocytes. Proc Natl Acad Sci USA 2007; 104: 14466-14471.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 14466-14471
    • Dentice, M.1    Luongo, C.2    Huang, S.3
  • 15
    • 79960839344 scopus 로고    scopus 로고
    • Parent-of-origin allelic contributions to deiodinase-3 expression elicit localized hyperthyroid milieu in the hippocampus
    • Sittig LJ, Herzing LB, Shukla PK, Redei EE. Parent-of-origin allelic contributions to deiodinase-3 expression elicit localized hyperthyroid milieu in the hippocampus. Mol Psychiatry 2011; 16: 786-787.
    • (2011) Mol Psychiatry , vol.16 , pp. 786-787
    • Sittig, L.J.1    Herzing, L.B.2    Shukla, P.K.3    Redei, E.E.4
  • 16
    • 0032941728 scopus 로고    scopus 로고
    • Regional expression of the type 3 iodothyronine deiodinase messenger ribonucleic acid in the rat central nervous system and its regulation by thyroid hormone
    • Tu HM, Legradi G, Bartha T, Salvatore D, Lechan R, Larsen PR. Regional expression of the type 3 iodothyronine deiodinase messenger ribonucleic acid in the rat central nervous system and its regulation by thyroid hormone. Endocrinology 1999; 140: 784-790.
    • (1999) Endocrinology , vol.140 , pp. 784-790
    • Tu, H.M.1    Legradi, G.2    Bartha, T.3    Salvatore, D.4    Lechan, R.5    Larsen, P.R.6
  • 17
    • 1242338875 scopus 로고    scopus 로고
    • Complex organization and structure of sense and antisense transcripts expressed from the DIO3 gene imprinted locus
    • Hernandez A, Martinez E, Croteau W, St Germain D. Complex organization and structure of sense and antisense transcripts expressed from the DIO3 gene imprinted locus. Genomics 2004; 83: 413-424.
    • (2004) Genomics , vol.83 , pp. 413-424
    • Hernandez, A.1    Martinez, E.2    Croteau, W.3    St Germain, D.4
  • 18
    • 0032544019 scopus 로고    scopus 로고
    • The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    • Hayward BE, Kamiya M, Strain L, et al. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 1998; 95: 10038-10043.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 10038-10043
    • Hayward, B.E.1    Kamiya, M.2    Strain, L.3
  • 19
    • 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 SF, Kelsey G, Skinner JA, 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 2000; 97: 3342-3346.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 3342-3346
    • Wroe, S.F.1    Kelsey, G.2    Skinner, J.A.3
  • 20
    • 0038364061 scopus 로고    scopus 로고
    • Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark
    • Arnaud P, Monk D, Hitchins M, et al. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet 2003; 12: 1005-1019.
    • (2003) Hum Mol Genet , vol.12 , pp. 1005-1019
    • Arnaud, P.1    Monk, D.2    Hitchins, M.3
  • 21
    • 84908324582 scopus 로고    scopus 로고
    • Genomic imprinting variations in the mouse type 3 deiodinase gene between tissues and brain regions
    • Martinez ME, Charalambous M, Saferali A, et al. Genomic imprinting variations in the mouse type 3 deiodinase gene between tissues and brain regions. Mol Endocrinol 2014; 28: 1875-1886.
    • (2014) Mol Endocrinol , vol.28 , pp. 1875-1886
    • Martinez, M.E.1    Charalambous, M.2    Saferali, A.3
  • 22
    • 84867151038 scopus 로고    scopus 로고
    • Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations
    • Kagami M, Matsuoka K, Nagai T, et al. Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations. Epigenetics 2012; 7: 1142-1150.
    • (2012) Epigenetics , vol.7 , pp. 1142-1150
    • Kagami, M.1    Matsuoka, K.2    Nagai, T.3
  • 23
    • 0037338926 scopus 로고    scopus 로고
    • Type 3 iodothyronine deiodinase is highly expressed in the human uteroplacental unit and in fetal epithelium
    • Huang SA, Dorfman DM, Genest DR, Salvatore D, Larsen PR. Type 3 iodothyronine deiodinase is highly expressed in the human uteroplacental unit and in fetal epithelium. J Clin Endocrinol Metab 2003; 88: 1384-1388.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1384-1388
    • Huang, S.A.1    Dorfman, D.M.2    Genest, D.R.3    Salvatore, D.4    Larsen, P.R.5
  • 24
    • 84860331721 scopus 로고    scopus 로고
    • Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice
    • Ueta CB, Oskouei BN, Olivares EL, et al. Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. Mol Endocrinol 2012; 26: 809-818.
    • (2012) Mol Endocrinol , vol.26 , pp. 809-818
    • Ueta, C.B.1    Oskouei, B.N.2    Olivares, E.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.