메뉴 건너뛰기




Volumn 13, Issue 3, 1999, Pages 186-196

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

Author keywords

Familial hypercholesterolemia; LDL receptor; MRNA quantity; MRNA splicing; MRNA structure

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

EID: 0033036048     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K     Document Type: Article
Times cited : (10)

References (34)
  • 1
    • 0024121631 scopus 로고
    • Nonsense mutations in the human β-globin gene affect mRNA metabolism
    • Baserga SJ, Benz EJ Jr. 1988. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 85:2056-2060.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2056-2060
    • Baserga, S.J.1    Benz E.J., Jr.2
  • 2
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47.
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 3
    • 0023871662 scopus 로고
    • Premature translational termination mediates triophosphate isomerase mRNA degradation
    • Daar IO, Maquat LE. 1988. Premature translational termination mediates triophosphate isomerase mRNA degradation. Mol Cell Biol 8:802-813.
    • (1988) Mol Cell Biol , vol.8 , pp. 802-813
    • Daar, I.O.1    Maquat, L.E.2
  • 4
    • 0028136599 scopus 로고
    • Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
    • Dietz HC, Kendzior RJ. 1994. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nature Genet 8:183-188.
    • (1994) Nature Genet , vol.8 , pp. 183-188
    • Dietz, H.C.1    Kendzior, R.J.2
  • 6
    • 0031028927 scopus 로고    scopus 로고
    • Phenylketonuria splice mutation (EXON6nt-96A→g) masquerading as missense mutation (Y204C)
    • Ellingsen S, Knappskog PM, Eiken HG. 1997. Phenylketonuria splice mutation (EXON6nt-96A→g) masquerading as missense mutation (Y204C). Hum Mutat 9:88-90.
    • (1997) Hum Mutat , vol.9 , pp. 88-90
    • Ellingsen, S.1    Knappskog, P.M.2    Eiken, H.G.3
  • 7
    • 0025183759 scopus 로고
    • A simple method tor generating single-stranded DMA probes labeled to high activities
    • Espelund M, Prentice RA, Jakobsen KS. 1990. A simple method tor generating single-stranded DMA probes labeled to high activities. Nucleic Acids Res 18:6157-6158.
    • (1990) Nucleic Acids Res , vol.18 , pp. 6157-6158
    • Espelund, M.1    Prentice, R.A.2    Jakobsen, K.S.3
  • 10
  • 11
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 12
    • 0002572725 scopus 로고
    • Direct mRNA isolation using Magnetic Oligo (dT) Beads: A protocol for all types ot cell cultures, animal and plant tissues
    • Uhlén M, Homes E, Olsvik Ø, editors. Naticle, MA: Eaton
    • Jakobsen KS, Haugen M, Sæbøe-Larssen S, Hollung K, Espelund M, Homes E. 1994. Direct mRNA isolation using Magnetic Oligo (dT) Beads: a protocol for all types ot cell cultures, animal and plant tissues. In: Uhlén M, Homes E, Olsvik Ø, editors. Advances in biomagnetic separation. Naticle, MA: Eaton p 61-71.
    • (1994) Advances in Biomagnetic Separation , pp. 61-71
    • Jakobsen, K.S.1    Haugen, M.2    Sæbøe-Larssen, S.3    Hollung, K.4    Espelund, M.5    Homes, E.6
  • 13
    • 0030070316 scopus 로고    scopus 로고
    • An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
    • Jensen LG, Jensen HK, Nissen H, Kristiansen K, Færgeman O, Bolund E, Gregersen N. 1996. An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. Hum Mutat 7:82-84.
    • (1996) Hum Mutat , vol.7 , pp. 82-84
    • Jensen, L.G.1    Jensen, H.K.2    Nissen, H.3    Kristiansen, K.4    Færgeman, O.5    Bolund, E.6    Gregersen, N.7
  • 14
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper ND. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, N.D.3
  • 15
    • 0025266556 scopus 로고
    • Common low-density lipoprotein receptor mutations in the French Canadian population
    • Eeitersdorf E, Tobin EJ, Davignon J, Hobbs HH. 1990. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 85:1014-1023.
    • (1990) J Clin Invest , vol.85 , pp. 1014-1023
    • Eeitersdorf, E.1    Tobin, E.J.2    Davignon, J.3    Hobbs, H.H.4
  • 16
    • 0028149181 scopus 로고
    • Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
    • Leren TP Solberg K, Rødningen OK, Tonstad S, Ose L. 1994. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111:175-182.
    • (1994) Atherosclerosis , vol.111 , pp. 175-182
    • Leren, T.P.1    Solberg, K.2    Rødningen, O.K.3    Tonstad, S.4    Ose, L.5
  • 17
    • 0029011984 scopus 로고
    • Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia
    • Leren TP, Solberg K, Tonstad S, Ose L. 1995a. Two novel point mutations in the EGF precursor homology domain of the EDL receptor gene causing familial hypercholesterolemia. Hum Genet 96:241-242.
    • (1995) Hum Genet , vol.96 , pp. 241-242
    • Leren, T.P.1    Solberg, K.2    Tonstad, S.3    Ose, L.4
  • 18
    • 0029004880 scopus 로고
    • Screening for known mutations in the LDL receptor gene among Norwegian familial hypercholcsterolemia subjects
    • Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L. 1995b. Screening for known mutations in the LDL receptor gene among Norwegian familial hypercholcsterolemia subjects. Hum Genet 95:671-676.
    • (1995) Hum Genet , vol.95 , pp. 671-676
    • Leren, T.P.1    Sundvold, H.2    Rødningen, O.K.3    Tonstad, S.4    Solberg, K.5    Ose, L.6
  • 20
    • 0028901081 scopus 로고
    • Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
    • Lombardi P, Sijbrands EJG, van de Giessen K, Smelt AHM, Kastelein JJP Frants RR, Havekos LM. 1995. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 36:860-867.
    • (1995) J Lipid Res , vol.36 , pp. 860-867
    • Lombardi, P.1    Sijbrands, E.J.G.2    Van De Giessen, K.3    Smelt, A.H.M.4    Kastelein, J.J.P.5    Frants, R.R.6    Havekos, L.M.7
  • 21
    • 0029330286 scopus 로고
    • When cells stop making sense: Effects ot nonsense codons on RNA metabolism in vertebrate cells
    • Maquat LE. 1995. When cells stop making sense: effects ot nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465.
    • (1995) RNA , vol.1 , pp. 453-465
    • Maquat, L.E.1
  • 22
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat LE. 1996. Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286.
    • (1996) Am J Hum Genet , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 23
    • 0027323004 scopus 로고
    • Mutations ot low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia
    • Moorjani S, Roy M, Torres A, Betard C, Gagné C, Lambert M, Brun D, Davignon J, Lupien R 1993. Mutations ot low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 341:1303-1306.
    • (1993) Lancet , vol.341 , pp. 1303-1306
    • Moorjani, S.1    Roy, M.2    Torres, A.3    Betard, C.4    Gagné, C.5    Lambert, M.6    Brun, D.7    Davignon, J.8    Lupien, R.9
  • 24
    • 0001584433 scopus 로고
    • Angina pectoris in hereditary xanthomatosis
    • Müller C. 1939. Angina pectoris in hereditary xanthomatosis. Arch Intern Med 64:675-700.
    • (1939) Arch Intern Med , vol.64 , pp. 675-700
    • Müller, C.1
  • 25
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai K, Sakamoto H. 1994. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 26
    • 0031042093 scopus 로고    scopus 로고
    • Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants
    • Nissen H, Hansen AB, Guldberg P, Petersen NE, Hansen TS, Hørner M. 1997. Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants. Atherosclerosis 128:75-83.
    • (1997) Atherosclerosis , vol.128 , pp. 75-83
    • Nissen, H.1    Hansen, A.B.2    Guldberg, P.3    Petersen, N.E.4    Hansen, T.S.5    Hørner, M.6
  • 27
    • 0029165020 scopus 로고
    • mRNA stability in mammalian cells
    • Ross J. 1995. mRNA stability in mammalian cells. Microbiol Rev 59:423-450.
    • (1995) Microbiol Rev , vol.59 , pp. 423-450
    • Ross, J.1
  • 28
    • 0027360081 scopus 로고
    • Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia subjects
    • Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K. 1993. Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia subjects. Clin Genet 44:214-220.
    • (1993) Clin Genet , vol.44 , pp. 214-220
    • Rødningen, O.K.1    Leren, T.P.2    Røsby, O.3    Tonstad, S.4    Ose, L.5    Berg, K.6
  • 29
    • 0031750586 scopus 로고    scopus 로고
    • Effects of a 9.6 kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA
    • Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP. 1998. Effects of a 9.6 kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA. Hum Mutat 12:95-102.
    • (1998) Hum Mutat , vol.12 , pp. 95-102
    • Rødningen, O.K.1    Tonstad, S.2    Ose, L.3    Berg, K.4    Leren, T.P.5
  • 30
    • 0027949145 scopus 로고
    • Familial hypercholesterolemia caused by a non-sense mutation in codon 329 of the LDL receptor gene
    • Solberg K, Rødningen OK, Tonstad S, Ose L, Leren TP 1994. Familial hypercholesterolemia caused by a non-sense mutation in codon 329 of the LDL receptor gene. Scand J Clin Lab Invest 54:605-609.
    • (1994) Scand J Clin Lab Invest , vol.54 , pp. 605-609
    • Solberg, K.1    Rødningen, O.K.2    Tonstad, S.3    Ose, L.4    Leren, T.P.5
  • 31
    • 0024336424 scopus 로고
    • Identification of a point mutation in the growth factor repeat of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors
    • Soutar AK, Knight BL, Patel DD. 1989. Identification of a point mutation in the growth factor repeat of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc Natl Acad Sci USA 86:4166-4170.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 4166-4170
    • Soutar, A.K.1    Knight, B.L.2    Patel, D.D.3
  • 32
    • 0030030867 scopus 로고    scopus 로고
    • A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
    • Sundvold H, Solberg K, Tonstad S, Rødningen OK, Ose L, Berg K, Leren TP 1996. A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects. Hum Mutat 7:70-71.
    • (1996) Hum Mutat , vol.7 , pp. 70-71
    • Sundvold, H.1    Solberg, K.2    Tonstad, S.3    Rødningen, O.K.4    Ose, L.5    Berg, K.6    Leren, T.P.7
  • 33
    • 0029788884 scopus 로고    scopus 로고
    • Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism
    • Webb JC, Patel DD, Shoulders CC, Knight BL and Soutar AK. 1996. Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Hum Mol Genet 9:1325-1331.
    • (1996) Hum Mol Genet , vol.9 , pp. 1325-1331
    • Webb, J.C.1    Patel, D.D.2    Shoulders, C.C.3    Knight, B.L.4    Soutar, A.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.