메뉴 건너뛰기




Volumn 113, Issue 5, 2003, Pages 371-376

Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 0141920804     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0982-9     Document Type: Article
Times cited : (12)

References (43)
  • 1
    • 0027500851 scopus 로고
    • Data on the CGG repeat at the fragile X site in the nonretarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
    • Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H (1993) Data on the CGG repeat at the fragile X site in the nonretarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet 92:431-436
    • (1993) Hum Genet , vol.92 , pp. 431-436
    • Arinami, T.1    Asano, M.2    Kobayashi, K.3    Yanagi, H.4    Hamaguchi, H.5
  • 6
    • 0030580987 scopus 로고    scopus 로고
    • Significance of linkage disequilibrium between the fragile X locus and its flanking markers
    • (editorial)
    • Chiurazzi P, Macpherson J, Sherman S, Neri G (1996) Significance of linkage disequilibrium between the fragile X locus and its flanking markers (editorial). Am J Med Genet 64:203-208
    • (1996) Am J Med Genet , vol.64 , pp. 203-208
    • Chiurazzi, P.1    Macpherson, J.2    Sherman, S.3    Neri, G.4
  • 7
    • 0028246435 scopus 로고
    • FMR1 knockout mice: A model to study fragile X mental retardation
    • Consortium TD-BFX (1994) FMR1 knockout mice: A model to study fragile X mental retardation. Cell 78:23-33
    • (1994) Cell , vol.78 , pp. 23-33
  • 8
    • 0034703871 scopus 로고    scopus 로고
    • Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR
    • Crawford DC, Wilson B, Sherman SL (2000a) Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. Hum Mol Genet 9:2909-2918
    • (2000) Hum Mol Genet , vol.9 , pp. 2909-2918
    • Crawford, D.C.1    Wilson, B.2    Sherman, S.L.3
  • 9
    • 0033854462 scopus 로고    scopus 로고
    • Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability
    • Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL (2000b) Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability. Hum Mol Genet 9:1759-1769
    • (2000) Hum Mol Genet , vol.9 , pp. 1759-1769
    • Crawford, D.C.1    Zhang, F.2    Wilson, B.3    Warren, S.T.4    Sherman, S.L.5
  • 10
    • 0031171578 scopus 로고    scopus 로고
    • A proposed test battery and constelations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice
    • Crawley JN, Paylor R (1997) A proposed test battery and constelations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice. Horm Behav 31:197-211
    • (1997) Horm Behav , vol.31 , pp. 197-211
    • Crawley, J.N.1    Paylor, R.2
  • 12
    • 0032563245 scopus 로고    scopus 로고
    • Evolution of simple repeats in DNA and their relation to human disease
    • Djian P (1998) Evolution of simple repeats in DNA and their relation to human disease. Cell 94:155-160
    • (1998) Cell , vol.94 , pp. 155-160
    • Djian, P.1
  • 13
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F (2002) Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 11:371-378
    • (2002) Hum Mol Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 15
    • 0029980776 scopus 로고    scopus 로고
    • Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations
    • Eichler EE, Nelson DL (1996) Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet 64:220-225
    • (1996) Am J Med Genet , vol.64 , pp. 220-225
    • Eichler, E.E.1    Nelson, D.L.2
  • 19
    • 0034639857 scopus 로고    scopus 로고
    • Understanding the molecular basis of fragile X syndrome
    • Jin P, Warren ST (2000) Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 9:901-908
    • (2000) Hum Mol Genet , vol.9 , pp. 901-908
    • Jin, P.1    Warren, S.T.2
  • 20
    • 0033843996 scopus 로고    scopus 로고
    • Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation
    • Kallinen J, Heinonen S, Mannermaa A, Ryynanen M (2000) Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation. Clin Genet 58:111-115
    • (2000) Clin Genet , vol.58 , pp. 111-115
    • Kallinen, J.1    Heinonen, S.2    Mannermaa, A.3    Ryynanen, M.4
  • 21
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren ST (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 26
    • 0036301947 scopus 로고    scopus 로고
    • A decade of molecular studies of fragile X syndrome
    • O'Donnell WT, Warren ST (2002) A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci 25:315-338
    • (2002) Annu Rev Neurosci , vol.25 , pp. 315-338
    • O'Donnell, W.T.1    Warren, S.T.2
  • 27
    • 0035697478 scopus 로고    scopus 로고
    • The fragile X gene and its function
    • Oostra BA, Chiurazzi P (2001) The fragile X gene and its function. Clin Genet 60:399-408
    • (2001) Clin Genet , vol.60 , pp. 399-408
    • Oostra, B.A.1    Chiurazzi, P.2
  • 31
    • 0030664357 scopus 로고    scopus 로고
    • Dynamic mutation: Possible mechanisms and significance in human disease
    • Richards RI, Sutherland GR (1997) Dynamic mutation: Possible mechanisms and significance in human disease. Trends Biochem Sci 22:432-436
    • (1997) Trends Biochem Sci , vol.22 , pp. 432-436
    • Richards, R.I.1    Sutherland, G.R.2
  • 32
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene - And implications for the population genetics of the fragile X syndrome
    • Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene - And implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.L.3    Khandjian, E.W.4    Morgan, K.5
  • 34
    • 0028072993 scopus 로고
    • Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations
    • Rubinsztein DC, Leggo J, Amos W, Barton DE, Ferguson-Smith MA (1994b) Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum Mol Genet 3:2031-2035
    • (1994) Hum Mol Genet , vol.3 , pp. 2031-2035
    • Rubinsztein, D.C.1    Leggo, J.2    Amos, W.3    Barton, D.E.4    Ferguson-Smith, M.A.5
  • 35
    • 0035184510 scopus 로고    scopus 로고
    • Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population
    • Sharma D, Gupta M, Thelma BK (2001) Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol 20:129-144
    • (2001) Genet Epidemiol , vol.20 , pp. 129-144
    • Sharma, D.1    Gupta, M.2    Thelma, B.K.3
  • 36
    • 0033070196 scopus 로고    scopus 로고
    • Biological implications of the DNA structures associated with disease-causing triplet repeats
    • Sinden RR (1999) Biological implications of the DNA structures associated with disease-causing triplet repeats. Am J Hum Genet 64:346-353
    • (1999) Am J Hum Genet , vol.64 , pp. 346-353
    • Sinden, R.R.1
  • 40
    • 0033761489 scopus 로고    scopus 로고
    • Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein
    • Wan L, Dockendorff TC, Jongens TA, Dreyfuss G (2000) Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein. Mol Cell Biol 20: 8535-8547
    • (2000) Mol Cell Biol , vol.20 , pp. 8536-8547
    • Wan, L.1    Dockendorff, T.C.2    Jongens, T.A.3    Dreyfuss, G.4
  • 42
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • Zhong N, Yang W, Dobkin C, Brown WT (1995) Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361
    • (1995) Am J Hum Genet , vol.57 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3    Brown, W.T.4
  • 43
    • 0030008960 scopus 로고    scopus 로고
    • Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes
    • Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT (1996) Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes. Am J Med Genet 64:261-265
    • (1996) Am J Med Genet , vol.64 , pp. 261-265
    • Zhong, N.1    Ju, W.2    Pietrofesa, J.3    Wang, D.4    Dobkin, C.5    Brown, W.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.