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Volumn 105, Issue 1-2, 1999, Pages 86-97

FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNION CELL; ARTICLE; CHROMOSOME REPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCUS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 0032789110     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900081     Document Type: Article
Times cited : (13)

References (68)
  • 1
    • 0031827452 scopus 로고    scopus 로고
    • Asynchronous replication of allelic loci in Down syndrome
    • Amiel A, Avivi L, Gaber E, Fejgin MD (1998a) Asynchronous replication of allelic loci in Down syndrome. Eur J Hum Genet 6:359-364
    • (1998) Eur J Hum Genet , vol.6 , pp. 359-364
    • Amiel, A.1    Avivi, L.2    Gaber, E.3    Fejgin, M.D.4
  • 2
    • 0031798761 scopus 로고    scopus 로고
    • Temporal differences in replication timing of homologous loci in malignant cells derived from CML and lymphoma patients
    • Amiel A, Litmanovitch T, Lishner M, Mor A, Gaber E, Fejgin MD, Avivi L (1998b) Temporal differences in replication timing of homologous loci in malignant cells derived from CML and lymphoma patients. Genes Chromosom Cancer 22:225-231
    • (1998) Genes Chromosom Cancer , vol.22 , pp. 225-231
    • Amiel, A.1    Litmanovitch, T.2    Lishner, M.3    Mor, A.4    Gaber, E.5    Fejgin, M.D.6    Avivi, L.7
  • 3
    • 0344229327 scopus 로고
    • Asynchronous DNA synthesis of sex chromatin in human interphase nuclei
    • Atkins L, Taft P, Kalal KP (1962) Asynchronous DNA synthesis of sex chromatin in human interphase nuclei. J Cell Biol 15: 390-393
    • (1962) J Cell Biol , vol.15 , pp. 390-393
    • Atkins, L.1    Taft, P.2    Kalal, K.P.3
  • 4
    • 0027173683 scopus 로고
    • Differences of size and shape of active and inactive X-chromosome domains in humann amniotic fluid cell nuclei
    • Bischoff A, Albers J, Kharboush I, Stelzer E, Cremer T, Cremer C (1993) Differences of size and shape of active and inactive X-chromosome domains in humann amniotic fluid cell nuclei. Microsc Res Tech 25:68-77
    • (1993) Microsc Res Tech , vol.25 , pp. 68-77
    • Bischoff, A.1    Albers, J.2    Kharboush, I.3    Stelzer, E.4    Cremer, T.5    Cremer, C.6
  • 5
    • 0028292039 scopus 로고
    • Analysis of the replication timing properties of human X-chromosomal loci by fluorescence in-situ hybridization
    • Boggs BA, Chinault AC (1994) Analysis of the replication timing properties of human X-chromosomal loci by fluorescence in-situ hybridization. Proc Natl Acad Sci USA 91:6083-6087
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6083-6087
    • Boggs, B.A.1    Chinault, A.C.2
  • 6
    • 0031280543 scopus 로고    scopus 로고
    • Analysis of DNA replication by fluorescence in-situ hybridization
    • Boggs BA, Chinault AC (1997) Analysis of DNA replication by fluorescence in-situ hybridization. Methods Cell Biol 13 :259-270
    • (1997) Methods Cell Biol , vol.13 , pp. 259-270
    • Boggs, B.A.1    Chinault, A.C.2
  • 8
    • 0025472887 scopus 로고
    • The fragile-X: Progress toward solving the puzzle
    • Brown WT (1990) The fragile-X: progress toward solving the puzzle (invited editorial). Am J Hum Genet 47: 175-180
    • (1990) Am J Hum Genet , vol.47 , pp. 175-180
    • Brown, W.T.1
  • 9
    • 0030007789 scopus 로고    scopus 로고
    • An assay for X inactivation based on differential methylation at the fragile X locus, FMRI
    • Carrel L, Willard HF (1996) An assay for X inactivation based on differential methylation at the fragile X locus, FMRI. Am J Med Genet 64:27-30
    • (1996) Am J Med Genet , vol.64 , pp. 27-30
    • Carrel, L.1    Willard, H.F.2
  • 10
    • 0032571410 scopus 로고    scopus 로고
    • Expansion of the allelic exclusion principle?
    • Chess A (1998) Expansion of the allelic exclusion principle? Science 279:2067-2068
    • (1998) Science , vol.279 , pp. 2067-2068
    • Chess, A.1
  • 11
    • 0027981484 scopus 로고
    • Allelic inactivation regulates olfactory receptor gene expression
    • Chess A, Simon I, Cedar H, Axel R (1994) Allelic inactivation regulates olfactory receptor gene expression. Cell 78:823-834
    • (1994) Cell , vol.78 , pp. 823-834
    • Chess, A.1    Simon, I.2    Cedar, H.3    Axel, R.4
  • 13
    • 0024457505 scopus 로고
    • Molecular cytological differentiation of active from inactive X domains in interphase: Implication for X chromosome inactivation
    • Dyer KA, Chanfield TK, Gartler SM (1989) Molecular cytological differentiation of active from inactive X domains in interphase: implication for X chromosome inactivation. Cytogenet Cell Genet 50: 116-120
    • (1989) Cytogenet Cell Genet , vol.50 , pp. 116-120
    • Dyer, K.A.1    Chanfield, T.K.2    Gartler, S.M.3
  • 15
    • 0344660621 scopus 로고    scopus 로고
    • Fragile X: Behavior and behavior/molecular correlations
    • Fisch G, Borghgraef M (1996) Fragile X: behavior and behavior/molecular correlations. Am J Med Genet 64:1-14
    • (1996) Am J Med Genet , vol.64 , pp. 1-14
    • Fisch, G.1    Borghgraef, M.2
  • 17
    • 0022606335 scopus 로고
    • The female and the fragile X: A study of 144 obligate female carriers
    • Fryns JP (1986) The female and the fragile X: a study of 144 obligate female carriers. Am J Med Genet 23:157-169
    • (1986) Am J Med Genet , vol.23 , pp. 157-169
    • Fryns, J.P.1
  • 19
    • 0000612623 scopus 로고
    • Human sex chromosome abnormalities in relation to DNA replication and heterochromatinization
    • Grumbach MM, Morishima A, Taylor JH (1963) Human sex chromosome abnormalities in relation to DNA replication and heterochromatinization. Proc Natl Acad Sci USA 49:581-589
    • (1963) Proc Natl Acad Sci USA , vol.49 , pp. 581-589
    • Grumbach, M.M.1    Morishima, A.2    Taylor, J.H.3
  • 20
    • 0028933627 scopus 로고
    • Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region
    • Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC (1995) Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev 9:808-820
    • (1995) Genes Dev , vol.9 , pp. 808-820
    • Gunaratne, P.H.1    Nakao, M.2    Ledbetter, D.H.3    Sutcliffe, J.S.4    Chinault, A.C.5
  • 21
    • 0030936319 scopus 로고    scopus 로고
    • Analysis of replication timing of ribosomal RNA genes by fluorescence in situ hybridization
    • Haaf T (1997) Analysis of replication timing of ribosomal RNA genes by fluorescence in situ hybridization. DNA Cell Biol 16:341-345
    • (1997) DNA Cell Biol , vol.16 , pp. 341-345
    • Haaf, T.1
  • 22
    • 0028174765 scopus 로고
    • Structural analysis of a-satellite DNA and centromere proteins using extended chromatin and chromosomes
    • Haaf T, Ward DC (1994) Structural analysis of a-satellite DNA and centromere proteins using extended chromatin and chromosomes. Hum Mol Genet 3:697-709
    • (1994) Hum Mol Genet , vol.3 , pp. 697-709
    • Haaf, T.1    Ward, D.C.2
  • 23
    • 0001966753 scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Silverman AC (eds) Johns Hopkins University Press, Baltimore
    • Hagerman RJ (1991) Physical and behavioral phenotype. In: Hagerman RJ, Silverman AC (eds) The fragile X syndrome: diagnosis, treatment and research. Johns Hopkins University Press, Baltimore, pp 3-68
    • (1991) The Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-68
    • Hagerman, R.J.1
  • 25
    • 0027176828 scopus 로고
    • Association of fragile X syndrome with delayed replication of the FMR1 gene
    • Hansen RS, Canfield TK, Lamb MM, Gartler SM, Laird CD (1993) Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 73:1403-1409
    • (1993) Cell , vol.73 , pp. 1403-1409
    • Hansen, R.S.1    Canfield, T.K.2    Lamb, M.M.3    Gartler, S.M.4    Laird, C.D.5
  • 26
    • 0030894828 scopus 로고    scopus 로고
    • A variable domain of delayed replication in FRAXA fragile X chromosome: X inactivation-like spread of late replication
    • Hansen RS, Canfield TK, Fjeld AD, Mumm S, Laird CD, Gartler SM (1997) A variable domain of delayed replication in FRAXA fragile X chromosome: X inactivation-like spread of late replication. Proc Natl Acad Sci USA 94:4587-4592
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4587-4592
    • Hansen, R.S.1    Canfield, T.K.2    Fjeld, A.D.3    Mumm, S.4    Laird, C.D.5    Gartler, S.M.6
  • 27
    • 0027383339 scopus 로고
    • The physical and medical pheno-type of fragile X females
    • Hull CE, Hagerman RJ (1993) The physical and medical pheno-type of fragile X females. Am J Dis Child 147:1236-1241
    • (1993) Am J Dis Child , vol.147 , pp. 1236-1241
    • Hull, C.E.1    Hagerman, R.J.2
  • 28
    • 0028788183 scopus 로고
    • X inactivation of the FMR1 fragile X mental retardation gene
    • Kirchgessner CU, Warren ST, Willard HF (1995) X inactivation of the FMR1 fragile X mental retardation gene. J Med Genet 32: 925-929
    • (1995) J Med Genet , vol.32 , pp. 925-929
    • Kirchgessner, C.U.1    Warren, S.T.2    Willard, H.F.3
  • 30
    • 0021277438 scopus 로고
    • Fragile (X) X-linked mental retardation. II Frequency and replication pattern of fragile (X)(q28) in heterozygotes
    • Knoll JH, Chudley AE, Gerrard JW (1984) Fragile (X) X-linked mental retardation. II Frequency and replication pattern of fragile (X)(q28) in heterozygotes. Am J Hum Genet 36:640-645
    • (1984) Am J Hum Genet , vol.36 , pp. 640-645
    • Knoll, J.H.1    Chudley, A.E.2    Gerrard, J.W.3
  • 31
    • 0028260642 scopus 로고
    • Allele specificity of DNA replication timing in the Angelmann/Prader-Willi syndrome imprinted chromosomal region
    • Knoll JHM, Cheng SD, Lalande M (1994) Allele specificity of DNA replication timing in the Angelmann/Prader-Willi syndrome imprinted chromosomal region. Nat Genet 6:41-46
    • (1994) Nat Genet , vol.6 , pp. 41-46
    • Knoll, J.H.M.1    Cheng, S.D.2    Lalande, M.3
  • 34
    • 0345091455 scopus 로고
    • The pattern of DNA replication in synthesis in the chromosomes of man
    • Lima de Faria A, Reitaln J, Bergmann S (1961) The pattern of DNA replication in synthesis in the chromosomes of man. Cancer Genet Cytogenet 3:171-181
    • (1961) Cancer Genet Cytogenet , vol.3 , pp. 171-181
    • De Lima Faria, A.1    Reitaln, J.2    Bergmann, S.3
  • 35
    • 0031874346 scopus 로고    scopus 로고
    • Asynchronous replication of homologous α-satellite DNA loci in man is associated with non-disjunction
    • Litmanovitch T, Altaras MM, Dotan B, Avivi L (1998) Asynchronous replication of homologous α-satellite DNA loci in man is associated with non-disjunction. Cytogenet Cell Genet 81:26-35
    • (1998) Cytogenet Cell Genet , vol.81 , pp. 26-35
    • Litmanovitch, T.1    Altaras, M.M.2    Dotan, B.3    Avivi, L.4
  • 36
    • 0026875908 scopus 로고
    • Molecular genetics of the fragile X syndrome: A new type of unstable mutations
    • Mandel JL, Heitz D (1992) Molecular genetics of the fragile X syndrome: a new type of unstable mutations. Curr Opin Genet Dev 2:422-430
    • (1992) Curr Opin Genet Dev , vol.2 , pp. 422-430
    • Mandel, J.L.1    Heitz, D.2
  • 38
    • 0026783868 scopus 로고
    • Detection of cell-cycle stage by fluorescence in situ hybridization: Its application in human interphase cytogenetics
    • Mukherjee AB, Murty VVVS, Chaganti RSK (1992) Detection of cell-cycle stage by fluorescence in situ hybridization: its application in human interphase cytogenetics. Cytogenet Cell Genet 61:91-94
    • (1992) Cytogenet Cell Genet , vol.61 , pp. 91-94
    • Mukherjee, A.B.1    Murty, V.V.V.S.2    Chaganti, R.S.K.3
  • 41
    • 0028841672 scopus 로고
    • Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree
    • Pintado E, De Diego Y, Hmadcha A, Carrasco M, Sierra J, Lucas M (1995) Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree. J Med Genet 32:907-908
    • (1995) J Med Genet , vol.32 , pp. 907-908
    • Pintado, E.1    De Diego, Y.2    Hmadcha, A.3    Carrasco, M.4    Sierra, J.5    Lucas, M.6
  • 42
    • 0014147821 scopus 로고
    • Delayed onset of replication of human X chromosomes
    • Priest JH, Heady JE, Priest RE (1967) Delayed onset of replication of human X chromosomes. J Cell Biol 35:483-487
    • (1967) J Cell Biol , vol.35 , pp. 483-487
    • Priest, J.H.1    Heady, J.E.2    Priest, R.E.3
  • 44
    • 0026354010 scopus 로고
    • Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
    • Rousseau F, Heitz D, Oberle I, Mandel JL (1991b) Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet 28:830-836
    • (1991) J Med Genet , vol.28 , pp. 830-836
    • Rousseau, F.1    Heitz, D.2    Oberle, I.3    Mandel, J.L.4
  • 45
    • 0029584645 scopus 로고
    • Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene
    • Rupert JL, Brown CJ, Willard HF (1995) Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene. Eur J Hum Genet 3:333-343
    • (1995) Eur J Hum Genet , vol.3 , pp. 333-343
    • Rupert, J.L.1    Brown, C.J.2    Willard, H.F.3
  • 46
    • 0026098386 scopus 로고
    • X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site at Xq27.3: Application of the probe M27 beta to evaluate X inactivation status
    • Schmidt M, Du Sart D, Kalitsis P, Fraser N, Leversha M, Voullaire L, Foster D, et al (1991) X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site at Xq27.3: application of the probe M27 beta to evaluate X inactivation status, Am J Med Genet 38:411-415
    • (1991) Am J Med Genet , vol.38 , pp. 411-415
    • Schmidt, M.1    Du Sart, D.2    Kalitsis, P.3    Fraser, N.4    Leversha, M.5    Voullaire, L.6    Foster, D.7
  • 47
    • 0026511908 scopus 로고
    • Delineation of DNA replication time zones by fluorescence in situ hybridization
    • Selig S, Okumura K, Ward DC, Cedar H (1992) Delineation of DNA replication time zones by fluorescence in situ hybridization. EMBO J 11:1217-1225
    • (1992) EMBO J , vol.11 , pp. 1217-1225
    • Selig, S.1    Okumura, K.2    Ward, D.C.3    Cedar, H.4
  • 50
    • 0029837857 scopus 로고    scopus 로고
    • Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE
    • Subramanian PS, Nelson DL, Chinault AC (1996) Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am J Hum Genet 59:407-416
    • (1996) Am J Hum Genet , vol.59 , pp. 407-416
    • Subramanian, P.S.1    Nelson, D.L.2    Chinault, A.C.3
  • 51
    • 0001470477 scopus 로고
    • Asynchronous duplication of chromosomes in cultured cells of Chinese hamster
    • Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J Biophys Biochem Cytol 7:455-464
    • (1960) J Biophys Biochem Cytol , vol.7 , pp. 455-464
    • Taylor, J.H.1
  • 52
  • 54
    • 0028141727 scopus 로고
    • DNA replication analysis of FMR1, XIST, and factor 8 C loci by FISH shows non-transcribed X-linked genes replicate late
    • Torchia BS, Call LM, Migeon BR (1994) DNA replication analysis of FMR1, XIST, and factor 8 C loci by FISH shows non-transcribed X-linked genes replicate late. Am J Hum Genet 55:96-104
    • (1994) Am J Hum Genet , vol.55 , pp. 96-104
    • Torchia, B.S.1    Call, L.M.2    Migeon, B.R.3
  • 56
    • 0020049827 scopus 로고
    • Activity of the fragile X in heterozygous carriers
    • Uchida IA, Joyce EM (1982) Activity of the fragile X in heterozygous carriers. Am J Hum Genet 34:286-293
    • (1982) Am J Hum Genet , vol.34 , pp. 286-293
    • Uchida, I.A.1    Joyce, E.M.2
  • 57
    • 0028874391 scopus 로고
    • CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro
    • Usdin K, Woodford KJ (1995) CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res 23:4202-4209
    • (1995) Nucleic Acids Res , vol.23 , pp. 4202-4209
    • Usdin, K.1    Woodford, K.J.2
  • 59
    • 84942947953 scopus 로고
    • Advances in molecular analysis of fragile X syndrome
    • Warren ST, Nelson DL (1994) Advances in molecular analysis of fragile X syndrome. JAMA 271:536-542
    • (1994) JAMA , vol.271 , pp. 536-542
    • Warren, S.T.1    Nelson, D.L.2
  • 60
    • 0345522919 scopus 로고
    • The epidemiology of the fragile X syndrome
    • Davies KE (ed) Oxford University Press, Oxford40-55
    • Webb T (1989) The epidemiology of the fragile X syndrome. In: Davies KE (ed) The fragile X syndrome. Oxford University Press, Oxford, pp 40-55
    • (1989) The Fragile X Syndrome
    • Webb, T.1
  • 61
    • 0026700975 scopus 로고
    • Delayed replication of Xq27 in individuals with the fragile X syndrome
    • Webb T (1992) Delayed replication of Xq27 in individuals with the fragile X syndrome. Am J Med Genet 43:1057-1062
    • (1992) Am J Med Genet , vol.43 , pp. 1057-1062
    • Webb, T.1
  • 62
  • 63
    • 0023750355 scopus 로고
    • Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation
    • Wilhelm D, Froster-Iskenius U, Paul J, Schwinger E (1988) Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation. Am J Med Genet 30:405-415
    • (1988) Am J Med Genet , vol.30 , pp. 405-415
    • Wilhelm, D.1    Froster-Iskenius, U.2    Paul, J.3    Schwinger, E.4
  • 64
    • 0000787866 scopus 로고
    • The sex chromosomes and X chromosome inactivation
    • Scriver CR, Beaudet al., Sly WS, Valle D (eds) McGraw-Hill, New York
    • Willard HF (1995) The sex chromosomes and X chromosome inactivation. In: Scriver CR, Beaudet al., Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 719-735
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , pp. 719-735
    • Willard, H.F.1
  • 65
    • 0029949942 scopus 로고    scopus 로고
    • X chromosome inactivation and X-linked mental retardation
    • Willard HF (1996) X chromosome inactivation and X-linked mental retardation. Am J Med Genet 64:21-26
    • (1996) Am J Med Genet , vol.64 , pp. 21-26
    • Willard, H.F.1
  • 66
    • 0017126281 scopus 로고
    • Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy
    • Willard HF, Latt SA (1976) Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy. Am J Hum Genet 28:213-227
    • (1976) Am J Hum Genet , vol.28 , pp. 213-227
    • Willard, H.F.1    Latt, S.A.2
  • 67
    • 0031901058 scopus 로고    scopus 로고
    • Replication timing of the various FMR1 alleles detected by FISH: Inferences regarding their transcriptional status
    • Yeshaya J, Shalgi R, Shohat M, Avivi L (1998) Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status. Hum Genet 102:6-14
    • (1998) Hum Genet , vol.102 , pp. 6-14
    • Yeshaya, J.1    Shalgi, R.2    Shohat, M.3    Avivi, L.4


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