메뉴 건너뛰기




Volumn 6, Issue 11, 1992, Pages 1909-1920

Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: Rapid detection by a modified denaturing gradient gel electrophoresis technique

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; ARGININE; ASPARTIC ACID; GLYCINE; HISTIDINE;

EID: 0026446137     PISSN: 08888809     EISSN: 19449917     Source Type: Journal    
DOI: 10.1210/mend.6.11.1480178     Document Type: Article
Times cited : (67)

References (57)
  • 1
    • 0002719881 scopus 로고
    • The androgen resistance syndromes: 5α-reductase deficiency, testicular feminization, and related disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, ed 6. McGraw-Hill, New York
    • Griffin JE, Wilson JD 1989 The androgen resistance syndromes: 5α-reductase deficiency, testicular feminization, and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic Basis of Inherited Disease, ed 6. McGraw-Hill, New York, pp 1919-1944.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1919-1944
    • Griffin, J.E.1    Wilson, J.D.2
  • 2
    • 0024306555 scopus 로고
    • Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity
    • Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS 1989 Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 86:9534-9538.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9534-9538
    • Lubahn, D.B.1    Brown, T.R.2    Simental, J.A.3    Higgs, H.N.4    Migeon, C.J.5    Wilson, E.M.6    French, F.S.7
  • 3
    • 0025087011 scopus 로고
    • Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: Premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance
    • Marcelli M, Tilley WD, Wilson CM, Griffin JE, Wilson JD, McPhaul MJ 1990 Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Mol Endocrinol 4:1105-1116.
    • (1990) Mol Endocrinol , vol.4 , pp. 1105-1116
    • Marcelli, M.1    Tilley, W.D.2    Wilson, C.M.3    Griffin, J.E.4    Wilson, J.D.5    McPhaul, M.J.6
  • 4
    • 0025613044 scopus 로고
    • Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity
    • Brown TR, Lubahn DB, Wilson EM, French FS, Migeon CJ, Corden JL 1990 Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. Mol Endocrinol 4:1759-1772.
    • (1990) Mol Endocrinol , vol.4 , pp. 1759-1772
    • Brown, T.R.1    Lubahn, D.B.2    Wilson, E.M.3    French, F.S.4    Migeon, C.J.5    Corden, J.L.6
  • 7
    • 0026643472 scopus 로고
    • Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor
    • Quigley CA, Evans BAJ, Simental JA, Marschke KB, Sar M, Lubahn DB, Davies P, Hughes IA, Wilson EM, French FS 1992 Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo. Mol Endocrinol 6:1103-1112.
    • (1992) Mol Endocrinol , vol.6 , pp. 1103-1112
    • Quigley, C.A.1    Evans, B.2    Simental, J.A.3    Marschke, K.B.4    Sar, M.5    Lubahn, D.B.6    Davies, P.7    Hughes, I.A.8    Wilson, E.M.9    French, F.S.10
  • 8
    • 0342597380 scopus 로고
    • Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome
    • Brown TR, Lubahn DB, Wilson EM, Joseph DR, French FS, Migeon CJ 1988 Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci USA 85:8151-8155.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 8151-8155
    • Brown, T.R.1    Lubahn, D.B.2    Wilson, E.M.3    Joseph, D.R.4    French, F.S.5    Migeon, C.J.6
  • 10
    • 0026048416 scopus 로고
    • Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg → Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function
    • Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ 1991 Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg → Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function. J Clin Endocrinol Metab 73:318-325.
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 318-325
    • Marcelli, M.1    Tilley, W.D.2    Zoppi, S.3    Griffin, J.E.4    Wilson, J.D.5    McPhaul, M.J.6
  • 13
    • 0025345401 scopus 로고
    • A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance
    • Marcelli M, Tilley WD, Wilson CM, Wilson JD, Griffin JE, McPhaul MJ 1990 A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance. J Clin Invest 85:1522-1528.
    • (1990) J Clin Invest , vol.85 , pp. 1522-1528
    • Marcelli, M.1    Tilley, W.D.2    Wilson, C.M.3    Wilson, J.D.4    Griffin, J.E.5    McPhaul, M.J.6
  • 15
    • 0023476285 scopus 로고
    • Detection and localization of single base changes by denaturing gradient gel electrophoresis
    • Myers RM, Maniatis T, Lerman LS 1987 Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155:501-518.
    • (1987) Methods Enzymol , vol.155 , pp. 501-518
    • Myers, R.M.1    Maniatis, T.2    Lerman, L.S.3
  • 16
    • 0022422690 scopus 로고
    • Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis
    • Myers RM, Fischer SG, Maniatis T, Lerman LS 1985 Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis. Nucleic Acids Res 13:3111-3129.
    • (1985) Nucleic Acids Res , vol.13 , pp. 3111-3129
    • Myers, R.M.1    Fischer, S.G.2    Maniatis, T.3    Lerman, L.S.4
  • 17
    • 0022422655 scopus 로고
    • Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis
    • Myers RM, Fischer SG, Lerman LS, Maniatis T 1985 Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 13:3131-3145.
    • (1985) Nucleic Acids Res , vol.13 , pp. 3131-3145
    • Myers, R.M.1    Fischer, S.G.2    Lerman, L.S.3    Maniatis, T.4
  • 18
    • 0000023099 scopus 로고
    • Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes
    • Sheffield VC, Cox DR, Lerman LS, Myers RM 1989 Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes. Proc Natl Acad Sci USA 86:232-236.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 19
    • 0007696315 scopus 로고
    • Detection of single base changes in DNA: Ribonuclease cleavage and denaturing gradient gel electrophoresis
    • Davies KE (ed), IRL Press, Oxford
    • Myers RM, Sheffield VC, Cox DR 1988 Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. In: Davies KE (ed) Genome Analysis: A Practical Approach. IRL Press, Oxford, pp 95-139.
    • (1988) Genome Analysis: A Practical Approach , pp. 95-139
    • Myers, R.M.1    Sheffield, V.C.2    Cox, D.R.3
  • 20
    • 0023476284 scopus 로고
    • Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
    • Lerman LS, Silverstein K 1987 Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 155:482-501.
    • (1987) Methods Enzymol , vol.155 , pp. 482-501
    • Lerman, L.S.1    Silverstein, K.2
  • 21
    • 0026807035 scopus 로고
    • Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids
    • Abrams ES, Stanton Jr VP 1992 Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids. Methods Enzymol 212:71-104.
    • (1992) Methods Enzymol , vol.212 , pp. 71-104
    • Abrams, E.S.1    Stanton, V.P.2
  • 22
    • 0024205612 scopus 로고
    • The human androgen receptor: Complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate
    • Lubahn DB, Joseph DR, Sar M, Tan J-A, Higgs HN, Larson RE, French FS, Wilson EM 1988 The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol 2:1265-1275.
    • (1988) Mol Endocrinol , vol.2 , pp. 1265-1275
    • Lubahn, D.B.1    Joseph, D.R.2    Sar, M.3    Tan, J.-A.4    Higgs, H.N.5    Larson, R.E.6    French, F.S.7    Wilson, E.M.8
  • 23
    • 0025957233 scopus 로고
    • Transcriptional activation and nuclear targeting signals of the human androgen receptor
    • Simental JA, Sar M, Lane MV, French FS, Wilson EM 1991 Transcriptional activation and nuclear targeting signals of the human androgen receptor. J Biol Chem 266:510-518.
    • (1991) J Biol Chem , vol.266 , pp. 510-518
    • Simental, J.A.1    Sar, M.2    Lane, M.V.3    French, F.S.4    Wilson, E.M.5
  • 24
    • 0024208947 scopus 로고
    • Many transcription factors interact synergistically with steroid receptors
    • Schüle R, Muller M, Kaltschmidt C, Renkawitz R 1988 Many transcription factors interact synergistically with steroid receptors. Science 242:1418-1420.
    • (1988) Science , vol.242 , pp. 1418-1420
    • Schüle, R.1    Muller, M.2    Kaltschmidt, C.3    Renkawitz, R.4
  • 25
    • 0025650618 scopus 로고
    • Immu-nohistochemical localization of the androgen receptor in rat and human tissues
    • Sar M, Lubahn DB, French FS, Wilson EM 1990 Immu-nohistochemical localization of the androgen receptor in rat and human tissues. Endocrinology 127:3180-3186.
    • (1990) Endocrinology , vol.127 , pp. 3180-3186
    • Sar, M.1    Lubahn, D.B.2    French, F.S.3    Wilson, E.M.4
  • 26
    • 0022413362 scopus 로고
    • Evidence from monoclonal antibody studies that insulin stimulates deoxyribonucleic acid synthesis through the type I somatomedin receptor
    • Van Wyk JJ, Graves DC, Casella SJ, Jacobs S 1985 Evidence from monoclonal antibody studies that insulin stimulates deoxyribonucleic acid synthesis through the type I somatomedin receptor. J Clin Endocrinol Metab 61:639-643.
    • (1985) J Clin Endocrinol Metab , vol.61 , pp. 639-643
    • Van Wyk, J.J.1    Graves, D.C.2    Casella, S.J.3    Jacobs, S.4
  • 29
    • 0016224034 scopus 로고
    • Syndrome of androgen insensitivity in man: Absence of 5a-dihydrotestosterone binding protein in skin fibroblasts
    • Keenan BS, Meyer WJ, Hadjian AJ, Jones HW, Migeon CJ 1974 Syndrome of androgen insensitivity in man: absence of 5a-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab 38:1143-1146.
    • (1974) J Clin Endocrinol Metab , vol.38 , pp. 1143-1146
    • Keenan, B.S.1    Meyer, W.J.2    Hadjian, A.J.3    Jones, H.W.4    Migeon, C.J.5
  • 31
    • 0019376205 scopus 로고
    • Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor
    • Pinsky L, Kaufman M, Summitt RL 1981 Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor. Am J Med Genet 10:91-99.
    • (1981) Am J Med Genet , vol.10 , pp. 91-99
    • Pinsky, L.1    Kaufman, M.2    Summitt, R.L.3
  • 40
    • 84995823415 scopus 로고
    • Mutations of the androgen receptor gene in patients with partial androgen insensitivity
    • Patterson MN, Batch JA, Evans BAJ, Hughes IA 1992 Mutations of the androgen receptor gene in patients with partial androgen insensitivity. J Cell Biochem [Suppl 16C] 22 (Abstract L136).
    • (1992) J Cell Biochem
    • Patterson, M.N.1    Batch, J.A.2    Evans, B.3    Hughes, I.A.4
  • 42
    • 0025892659 scopus 로고
    • A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse
    • He WW, Kumar MV, Tindall DJ 1991 A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse. Nucleic Acids Res 19:2373-2378.
    • (1991) Nucleic Acids Res , vol.19 , pp. 2373-2378
    • He, W.W.1    Kumar, M.V.2    Tindall, D.J.3
  • 43
    • 0025329841 scopus 로고
    • Characterization and colocalization of steroid binding and dimer-ization activities in the mouse estrogen receptor
    • Fawell SE, Lees JA, White R, Parker MG 1990 Characterization and colocalization of steroid binding and dimer-ization activities in the mouse estrogen receptor. Cell 60:953-962.
    • (1990) Cell , vol.60 , pp. 953-962
    • Fawell, S.E.1    Lees, J.A.2    White, R.3    Parker, M.G.4
  • 44
    • 0019318994 scopus 로고
    • DNA methylation and gene function
    • Razin A, Riggs AD 1980 DNA methylation and gene function. Science 210:604-609.
    • (1980) Science , vol.210 , pp. 604-609
    • Razin, A.1    Riggs, A.D.2
  • 45
    • 0019198357 scopus 로고
    • Mutagenic deamination of cytosine residues in DNA
    • Duncan BK, Miller JH 1980 Mutagenic deamination of cytosine residues in DNA. Nature 287:560-561.
    • (1980) Nature , vol.287 , pp. 560-561
    • Duncan, B.K.1    Miller, J.H.2
  • 48
    • 0021918737 scopus 로고
    • Detection of single base substitutions in total genomic DNA
    • Myers RM, Lumelsky N, Lerman LS, Maniatis T 1985 Detection of single base substitutions in total genomic DNA. Nature 313:495-498.
    • (1985) Nature , vol.313 , pp. 495-498
    • Myers, R.M.1    Lumelsky, N.2    Lerman, L.S.3    Maniatis, T.4
  • 49
    • 0017148262 scopus 로고
    • Complementary base pairing and the origin of substitution mutations
    • Topal MD, Fresco JR 1976 Complementary base pairing and the origin of substitution mutations. Nature 263:285-289.
    • (1976) Nature , vol.263 , pp. 285-289
    • Topal, M.D.1    Fresco, J.R.2
  • 50
    • 0025287912 scopus 로고
    • Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene
    • Traystman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian Jr HH 1990 Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. Genomics 6:293-301.
    • (1990) Genomics , vol.6 , pp. 293-301
    • Traystman, M.D.1    Higuchi, M.2    Kasper, C.K.3    Antonarakis, S.E.4    Kazazian, H.H.5
  • 51
    • 0024426498 scopus 로고
    • Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid/3-glucosidase gene
    • Theophilus BDM, Latham T, Grabowski GA, Smith FI 1989 Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid/3-glucosidase gene. Nucleic Acids Res 17:7707-7722.
    • (1989) Nucleic Acids Res , vol.17 , pp. 7707-7722
    • Theophilus, B.1    Latham, T.2    Grabowski, G.A.3    Smith, F.I.4
  • 52
    • 0242581339 scopus 로고
    • Generation of singlestranded DNA by the polymerase chain reaction and its application to direct sequencing of the
    • Gyllensten UB, Erlich HA 1988 Generation of singlestranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85:7652-7656.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7652-7656
    • Gyllensten, U.B.1    Erlich, H.A.2
  • 53
    • 0023684064 scopus 로고
    • A general method of
    • Higuchi R, Krummel B, Saiki RK 1988 A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. Nucleic Acids Res 16:7351-7367.
    • (1988) Nucleic Acids Res , vol.16 , pp. 7351-7367
    • Higuchi, R.1    Krummel, B.2    Saiki, R.K.3
  • 54
    • 0001823786 scopus 로고
    • Recombinant PCR
    • Innis MA, Gelfand DH, Snisky JJ, White TJ, Academic Press, San Diego
    • Higuchi R 1990 Recombinant PCR. In: Innis MA, Gelfand DH, Snisky JJ, White TJ (eds) PCR Protocols-A Guide to Methods and Applications, chapt 22. Academic Press, San Diego, pp 177-183.
    • (1990) PCR Protocols-A Guide to Methods and Applications, Chapt 22 , pp. 177-183
    • Higuchi, R.1
  • 57
    • 0002527626 scopus 로고
    • Application of avidin-biotin complex technique for the localization of estradiol receptor in target tissues using monoclonal antibodies
    • Bullock GR, Petrusz P (eds), Academic Press, New York
    • Sar M 1985 Application of avidin-biotin complex technique for the localization of estradiol receptor in target tissues using monoclonal antibodies. In: Bullock GR, Petrusz P (eds) Techniques in Immunocytochemistry. Academic Press, New York, vol 3:43-54.
    • (1985) Techniques in Immunocytochemistry , vol.3 , pp. 43-54
    • Sar, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.