메뉴 건너뛰기




Volumn 9, Issue 3, 2005, Pages 143-149

Nonsense-associated alternative splicing of the human thyroglobulin gene

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; THYROGLOBULIN;

EID: 27744604752     PISSN: 10848592     EISSN: 10848592     Source Type: Journal    
DOI: 10.2165/00066982-200509030-00004     Document Type: Article
Times cited : (9)

References (32)
  • 1
    • 0032881334 scopus 로고    scopus 로고
    • Genomic organization of the 3′ region of the human thyroglobulin gene
    • Mendive FM, Rivolta CM, Vassart G, et al. Genomic organization of the 3′ region of the human thyroglobulin gene. Thyroid 1999; 9: 903-12
    • (1999) Thyroid , vol.9 , pp. 903-912
    • Mendive, F.M.1    Rivolta, C.M.2    Vassart, G.3
  • 2
    • 0034500764 scopus 로고    scopus 로고
    • Genomic organization of the 5′ region of the human thyroglobulin gene
    • Moya CM, Mendive FM, Rivolta CM, et al. Genomic organization of the 5′ region of the human thyroglobulin gene. Eur J Endocrinol 2000; 143: 789-98
    • (2000) Eur J Endocrinol , vol.143 , pp. 789-798
    • Moya, C.M.1    Mendive, F.M.2    Rivolta, C.M.3
  • 3
    • 0034816267 scopus 로고    scopus 로고
    • Genomic organization of the human thyroglobulin gene. The complete intron-exon structure
    • Mendive FM, Rivolta CM, Moya CM, et al. Genomic organization of the human thyroglobulin gene. The complete intron-exon structure. Eur J Endocrinol 2001; 145: 485-96
    • (2001) Eur J Endocrinol , vol.145 , pp. 485-496
    • Mendive, F.M.1    Rivolta, C.M.2    Moya, C.M.3
  • 5
    • 0026334976 scopus 로고
    • A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    • Ieiri T, Cochaux P, Targovnik HM, et al. A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 1991; 88: 1901-5
    • (1991) J Clin Invest , vol.88 , pp. 1901-1905
    • Ieiri, T.1    Cochaux, P.2    Targovnik, H.M.3
  • 6
    • 0027244729 scopus 로고
    • A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
    • Targovnik HM, Medeiros-Neto G, Varela V, et al. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 1993; 77: 210-5
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 210-215
    • Targovnik, H.M.1    Medeiros-Neto, G.2    Varela, V.3
  • 7
    • 0027509035 scopus 로고
    • Thyroglobulin gene point mutation associated with non-endemic simple goitre
    • Corral J, Martín C, Pérez R, et al. Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 1993; 341: 462-4
    • (1993) Lancet , vol.341 , pp. 462-464
    • Corral, J.1    Martín, C.2    Pérez, R.3
  • 8
    • 0028820361 scopus 로고
    • A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
    • Targovnik H, Vono J, Billerbeck AEC, et al. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 1995; 80: 3356-60
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3356-3360
    • Targovnik, H.1    Vono, J.2    Billerbeck, A.E.C.3
  • 9
    • 0029993867 scopus 로고    scopus 로고
    • Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter
    • Pérez-Centeno C, González-Sarmiento R, Mories MT, et al. Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Thyroid 1996; 6: 423-7
    • (1996) Thyroid , vol.6 , pp. 423-427
    • Pérez-Centeno, C.1    González-Sarmiento, R.2    Mories, M.T.3
  • 10
    • 0031960583 scopus 로고    scopus 로고
    • Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
    • Targovnik HM, Frechtel GD, Mendive FM, et al. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 1998; 8: 291-7
    • (1998) Thyroid , vol.8 , pp. 291-297
    • Targovnik, H.M.1    Frechtel, G.D.2    Mendive, F.M.3
  • 11
    • 0033306061 scopus 로고    scopus 로고
    • A premature stop codon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism
    • van de Graaf SAR, Ris-Stalpers C, Veenboer GJM, et al. A premature stop codon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism. J Clin Endocrinol Metab 1999; 84: 2537-42
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2537-2542
    • Van De Graaf, S.A.R.1    Ris-Stalpers, C.2    Veenboer, G.J.M.3
  • 12
    • 0033323823 scopus 로고    scopus 로고
    • Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter
    • Hishinuma A, Takamatsu J, Ohyama Y, et al. Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J Clin Endocrinol Metab 1999; 84: 1438-44
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1438-1444
    • Hishinuma, A.1    Takamatsu, J.2    Ohyama, Y.3
  • 13
    • 0034920875 scopus 로고    scopus 로고
    • Congenital goiter with hypothy-roidism caused by a 5′ splice site mutation in the thyroglobulin gene
    • Targovnik HM, Rivolta CM, Mendive FM, et al. Congenital goiter with hypothy-roidism caused by a 5′ splice site mutation in the thyroglobulin gene. Thyroid 2001; 11: 685-90
    • (2001) Thyroid , vol.11 , pp. 685-690
    • Targovnik, H.M.1    Rivolta, C.M.2    Mendive, F.M.3
  • 14
    • 0034889773 scopus 로고    scopus 로고
    • Monoallelic deletion in the 5′ region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter
    • González-Sarmiento R, Corral J, Mories MT, et al. Monoallelic deletion in the 5′ region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid 2001; 11: 789-93
    • (2001) Thyroid , vol.11 , pp. 789-793
    • González-Sarmiento, R.1    Corral, J.2    Mories, M.T.3
  • 15
    • 0041883376 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A[R2223H]) resulting in fetal goitrous hypothyroidism
    • Caron P, Moya CM, Malet D, et al. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G.A[R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 2003; 88: 3546-53
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3546-3553
    • Caron, P.1    Moya, C.M.2    Malet, D.3
  • 16
    • 1442327782 scopus 로고    scopus 로고
    • Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis
    • Gutnisky VJ, Moya CM, Rivolta CM, et al. Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 2004; 89: 646-57
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 646-657
    • Gutnisky, V.J.1    Moya, C.M.2    Rivolta, C.M.3
  • 17
    • 0026500875 scopus 로고
    • Identification of a minor TG mRNA transcript in RNA from normal and goitrous thyroids
    • Targovnik HM, Cochaux P, Corach D, et al. Identification of a minor TG mRNA transcript in RNA from normal and goitrous thyroids. Mol Cell Endocrinol 1992; 84: R23-6
    • (1992) Mol Cell Endocrinol , vol.84
    • Targovnik, H.M.1    Cochaux, P.2    Corach, D.3
  • 18
    • 0031667970 scopus 로고    scopus 로고
    • The association of nonsense codons with exon skipping
    • Valentine CR. The association of nonsense codons with exon skipping. Mutat Res 1998; 411: 87-117
    • (1998) Mutat Res , vol.411 , pp. 87-117
    • Valentine, C.R.1
  • 19
    • 0034161419 scopus 로고    scopus 로고
    • Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
    • Blencowe BJ. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 2000; 25: 106-10
    • (2000) Trends Biochem Sci , vol.25 , pp. 106-110
    • Blencowe, B.J.1
  • 20
    • 0024349521 scopus 로고
    • Nonsense mutations in the dehydrofolate reductase gene affect RNA processing
    • Urlaub G, Mitchell PJ, Ciudad CJ, et al. Nonsense mutations in the dehydrofolate reductase gene affect RNA processing. Mol Cell Biol 1989; 9: 2868-80
    • (1989) Mol Cell Biol , vol.9 , pp. 2868-2880
    • Urlaub, G.1    Mitchell, P.J.2    Ciudad, C.J.3
  • 21
    • 0028352313 scopus 로고
    • Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
    • Church DM, Stotler CJ, Rutter JL, et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 1994; 6: 98-105
    • (1994) Nat Genet , vol.6 , pp. 98-105
    • Church, D.M.1    Stotler, C.J.2    Rutter, J.L.3
  • 22
    • 0023850178 scopus 로고
    • Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki RK, Gelfand DH, Stoeffel S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1    Gelfand, D.H.2    Stoeffel, S.3
  • 23
    • 0030725216 scopus 로고    scopus 로고
    • Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
    • Shiga N, Takeshima Y, Sakamoto H, et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 1997; 100: 2004-10
    • (1997) J Clin Invest , vol.100 , pp. 2004-2010
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3
  • 24
    • 0033545946 scopus 로고    scopus 로고
    • Missence and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • U S A
    • D'Souza I, Poorkaj P, Hong M, et al. Missence and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A 1999; 96: 5598-603
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkaj, P.2    Hong, M.3
  • 25
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • U S A
    • Lorson CL, Hahnen E, Androphy EJ, et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999; 96: 6307-11
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3
  • 26
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu HX, Cartegni L, Zhang MQ, et al. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 2001; 27: 55-8
    • (2001) Nat Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3
  • 27
    • 15844406352 scopus 로고    scopus 로고
    • Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of mutant codon is independent of protein synthesis
    • Aoufouchi S, Yélamos J, Milstein C. Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell 1996; 85: 415-22
    • (1996) Cell , vol.85 , pp. 415-422
    • Aoufouchi, S.1    Yélamos, J.2    Milstein, C.3
  • 28
    • 0028136599 scopus 로고
    • Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
    • Dietz HC, Kendzior Jr RJ. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet 1994; 8: 183-8
    • (1994) Nat Genet , vol.8 , pp. 183-188
    • Dietz, H.C.1    Kendzior Jr., R.J.2
  • 29
    • 0029330286 scopus 로고
    • When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
    • Maquat LE. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995; 1: 453-65
    • (1995) RNA , vol.1 , pp. 453-465
    • Maquat, L.E.1
  • 30
    • 0036207384 scopus 로고    scopus 로고
    • Listening to the silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer A. Listening to the silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285-98
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.3
  • 31
    • 0035839002 scopus 로고    scopus 로고
    • Coupled transcription and translation within nuclei of mammalian cells
    • Iborra FJ, Jackson DA, Cook PR. Coupled transcription and translation within nuclei of mammalian cells. Science 2001; 293: 1139-42
    • (2001) Science , vol.293 , pp. 1139-1142
    • Iborra, F.J.1    Jackson, D.A.2    Cook, P.R.3
  • 32
    • 0034886974 scopus 로고    scopus 로고
    • Precursor RNAs harboring nonsense codons accumulate near the site of transcription
    • Mühlemann O, Mock-Casagrande CS, Wang J, et al. Precursor RNAs harboring nonsense codons accumulate near the site of transcription. Mol Cell 2001; 8: 33-44
    • (2001) Mol Cell , vol.8 , pp. 33-44
    • Mühlemann, O.1    Mock-Casagrande, C.S.2    Wang, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.