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Volumn 64, Issue 1, 1996, Pages 21-26

X chromosome inactivation and X-linked mental retardation

Author keywords

aneuploidy; functional disomy; mental retardation; X chromosome; X inactivation

Indexed keywords

ARTICLE; CHROMOSOME DELETION X; DISOMY; FEMALE; GENE DOSAGE; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 0029949942     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<21::AID-AJMG2>3.0.CO;2-U     Document Type: Article
Times cited : (23)

References (53)
  • 1
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen R, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992): Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 2
    • 0029051456 scopus 로고
    • X chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree relatives an skewed inactivation as cause of the affected phenotypes
    • Azofeifa J, Voit T, Hubner C, Cremer M (1995): X chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree relatives an skewed inactivation as cause of the affected phenotypes. Hum Genet 96:167-176.
    • (1995) Hum Genet , vol.96 , pp. 167-176
    • Azofeifa, J.1    Voit, T.2    Hubner, C.3    Cremer, M.4
  • 3
    • 0025961771 scopus 로고
    • A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
    • Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF (1991b): A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-44.
    • (1991) Nature , vol.349 , pp. 38-44
    • Brown, C.J.1    Ballabio, A.2    Rupert, J.L.3    Lafreniere, R.G.4    Grompe, M.5    Tonlorenzi, R.6    Willard, H.F.7
  • 6
    • 0030007789 scopus 로고    scopus 로고
    • An assay for X inactivation based on differential methylation at the fragile X locus, FMR1
    • Carrel L, Willard HF (1996): An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. Am J Med Genet 64:27-30.
    • (1996) Am J Med Genet , vol.64 , pp. 27-30
    • Carrel, L.1    Willard, H.F.2
  • 8
    • 0014038590 scopus 로고
    • Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis
    • Cohen MM, Sandberg AA, Takagi N, MacGillivray M (1967): Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics 6: 254-267.
    • (1967) Cytogenetics , vol.6 , pp. 254-267
    • Cohen, M.M.1    Sandberg, A.A.2    Takagi, N.3    MacGillivray, M.4
  • 9
    • 0028986810 scopus 로고
    • Pyruvate dehydogenase E1a deficiency: Males and females differ yet again
    • Dahl HHM (1995): Pyruvate dehydogenase E1a deficiency: Males and females differ yet again. Am J Hum Genet 56:553-557.
    • (1995) Am J Hum Genet , vol.56 , pp. 553-557
    • Dahl, H.H.M.1
  • 11
    • 75449129733 scopus 로고
    • Demonstration of two populations of cells in the human female heterozygous for glucose-6-phosphate dehydrogenase variants
    • Davidson RG, Nitowsky HM, Childs B (1963): Demonstration of two populations of cells in the human female heterozygous for glucose-6-phosphate dehydrogenase variants. Proc Natl Acad Sci USA 50:481-485.
    • (1963) Proc Natl Acad Sci USA , vol.50 , pp. 481-485
    • Davidson, R.G.1    Nitowsky, H.M.2    Childs, B.3
  • 13
    • 0028833226 scopus 로고
    • Escape from X inactivation in human and mouse
    • Disteche C (1995): Escape from X inactivation in human and mouse. Trends Genet 11:17-22.
    • (1995) Trends Genet , vol.11 , pp. 17-22
    • Disteche, C.1
  • 14
    • 0026541159 scopus 로고
    • Noninactivation of a portion of Xq28 in a balanced X;autosome translocation
    • Du Sart D, Kalitsis P, Schmidt M (1992): Noninactivation of a portion of Xq28 in a balanced X;autosome translocation. Am J Med Genet 42:156-160.
    • (1992) Am J Med Genet , vol.42 , pp. 156-160
    • Du Sart, D.1    Kalitsis, P.2    Schmidt, M.3
  • 16
    • 0028219438 scopus 로고
    • Tissue specificity of X chromosome inactivation patterns
    • Gale RE, Wheadon H, Boulos P, Linch DC (1994): Tissue specificity of X chromosome inactivation patterns. Blood 83:2899-2905.
    • (1994) Blood , vol.83 , pp. 2899-2905
    • Gale, R.E.1    Wheadon, H.2    Boulos, P.3    Linch, D.C.4
  • 17
    • 0026687110 scopus 로고
    • X-linked alpha thalessemia/mental retardation syndrome: Localization to Xq12-21.31 by X inactivation and linkage analysis
    • Gibbons RJ, Suthers SK, Wilkie A, Buckle VJ, Higgs DR (1992): X-linked alpha thalessemia/mental retardation syndrome: Localization to Xq12-21.31 by X inactivation and linkage analysis. Am J Hum Genet 51:1136-1149.
    • (1992) Am J Hum Genet , vol.51 , pp. 1136-1149
    • Gibbons, R.J.1    Suthers, S.K.2    Wilkie, A.3    Buckle, V.J.4    Higgs, D.R.5
  • 18
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha thalessemia
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995): Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha thalessemia. Cell 80:837-845.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 19
    • 0025817417 scopus 로고
    • X-linked mental retardation
    • Glass IA (1991): X-linked mental retardation. J Med Genet 28:361.
    • (1991) J Med Genet , vol.28 , pp. 361
    • Glass, I.A.1
  • 20
    • 0026584487 scopus 로고
    • 45,X/46,X,r(X) can have a distinct phenotype different from Ullrich-Turner syndrome
    • Grompe M, Rao N, Elder F, Caskey CT, Greenberg F (1992): 45,X/46,X,r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. Am J Med Genet 42:39-43.
    • (1992) Am J Med Genet , vol.42 , pp. 39-43
    • Grompe, M.1    Rao, N.2    Elder, F.3    Caskey, C.T.4    Greenberg, F.5
  • 21
    • 0028029825 scopus 로고
    • Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation
    • Gustashaw KM, Zurcher V, Dickerman L, Stallard R, Willard HF (1994): Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. Am J Med Genet 53:39-45.
    • (1994) Am J Med Genet , vol.53 , pp. 39-45
    • Gustashaw, K.M.1    Zurcher, V.2    Dickerman, L.3    Stallard, R.4    Willard, H.F.5
  • 22
    • 77957217820 scopus 로고
    • An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the monoamine oxidase a gene
    • Hendriks RW, Chen Z-Y, Hinds H, Schuurman RKB, Craig IW (1992): An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the monoamine oxidase A gene. Hum Mol Genet 1:187-194.
    • (1992) Hum Mol Genet , vol.1 , pp. 187-194
    • Hendriks, R.W.1    Chen, Z.-Y.2    Hinds, H.3    Schuurman, R.K.B.4    Craig, I.W.5
  • 23
    • 0027268523 scopus 로고
    • Lack of inactivation: Loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21)(p21.3;p11.2)/ 46,X,t(X;21)(p21.3;p11.2)
    • Ishikiriyama S, Iai M, Tanabe Y (1993): Lack of inactivation: Loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21)(p21.3;p11.2)/ 46,X,t(X;21)(p21.3;p11.2). Am J Med Genet 47:41-44.
    • (1993) Am J Med Genet , vol.47 , pp. 41-44
    • Ishikiriyama, S.1    Iai, M.2    Tanabe, Y.3
  • 24
    • 0027450207 scopus 로고
    • Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation
    • Kay GF, Penny GD, Patel D, Ashworth A, Brockdorff N, Rastan S (1993): Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 72: 171-182.
    • (1993) Cell , vol.72 , pp. 171-182
    • Kay, G.F.1    Penny, G.D.2    Patel, D.3    Ashworth, A.4    Brockdorff, N.5    Rastan, S.6
  • 27
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse (Mus musculus L.)
    • Lyon MF (1961): Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373.
    • (1961) Nature , vol.190 , pp. 372-373
    • Lyon, M.F.1
  • 29
    • 0026650140 scopus 로고
    • Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X inactivation interfering with carrier detection tests
    • Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U (1992): Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X inactivation interfering with carrier detection tests. Hum Genet 89:395-400.
    • (1992) Hum Genet , vol.89 , pp. 395-400
    • Marcus, S.1    Steen, A.M.2    Andersson, B.3    Lambert, B.4    Kristoffersson, U.5    Francke, U.6
  • 30
    • 0019496026 scopus 로고
    • Structual anomalies of the X chromosome and inactivation center
    • Mattei MG, Mattei JF, Vidal I, Giraud F (1981): Structual anomalies of the X chromosome and inactivation center. Hum Genet 56:401-408.
    • (1981) Hum Genet , vol.56 , pp. 401-408
    • Mattei, M.G.1    Mattei, J.F.2    Vidal, I.3    Giraud, F.4
  • 32
    • 0027991877 scopus 로고
    • The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
    • Migeon BR, Luo S, Jani M, Jeppesen P (1994): The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet 55:497-504.
    • (1994) Am J Hum Genet , vol.55 , pp. 497-504
    • Migeon, B.R.1    Luo, S.2    Jani, M.3    Jeppesen, P.4
  • 37
    • 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 (1991): 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
  • 38
    • 0029584645 scopus 로고
    • Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene
    • Rupert J, 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.1    Brown, C.J.2    Willard, H.F.3
  • 39
    • 0025174591 scopus 로고
    • Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: Implications for the fragile X syndrome
    • Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks D (1990): Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: Implications for the fragile X syndrome. Hum Genet 84:347-352.
    • (1990) Hum Genet , vol.84 , pp. 347-352
    • Schmidt, M.1    Certoma, A.2    Du Sart, D.3    Kalitsis, P.4    Leversha, M.5    Fowler, K.6    Sheffield, L.7    Jack, I.8    Danks, D.9
  • 40
    • 0026499911 scopus 로고
    • Functional disomies of the X chromosome influence the cell selection and hence the inactivation pattern in females with balanced X;autosome translocations: A review of 122 cases
    • Schmidt M, Du Sart D (1992): Functional disomies of the X chromosome influence the cell selection and hence the inactivation pattern in females with balanced X;autosome translocations: A review of 122 cases. Am J Med Genet 42:161-169.
    • (1992) Am J Med Genet , vol.42 , pp. 161-169
    • Schmidt, M.1    Du Sart, D.2
  • 41
    • 0025817253 scopus 로고
    • Duplications of the X chromosome in males: Evidence that most parts of the X chromosome can be active in two copies
    • Schmidt M, Du Sart D, Kalitsis P, Leversha M, Dale S, Sheffield L, Toniolo D (1991): Duplications of the X chromosome in males: Evidence that most parts of the X chromosome can be active in two copies. Hum Genet 86:519-521.
    • (1991) Hum Genet , vol.86 , pp. 519-521
    • Schmidt, M.1    Du Sart, D.2    Kalitsis, P.3    Leversha, M.4    Dale, S.5    Sheffield, L.6    Toniolo, D.7
  • 42
    • 0027370903 scopus 로고
    • X-linked mental retardation: In pursuit of a gene map
    • Schwartz CE (1993): X-linked mental retardation: In pursuit of a gene map. Am J Hum Genet 52:1025-1031.
    • (1993) Am J Hum Genet , vol.52 , pp. 1025-1031
    • Schwartz, C.E.1
  • 44
    • 0025960560 scopus 로고
    • Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor DC deficiency)
    • Taylor SAM, Deugau K, Lillicrap DP (1991): Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor DC deficiency). Proc Natl Acad Sci USA 88:39-42.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 39-42
    • Taylor, S.A.M.1    Deugau, K.2    Lillicrap, D.P.3
  • 45
    • 0016176571 scopus 로고
    • Abnormal X chromosomes in man: Origin, behavior and effects
    • Therman E, Patau K (1974): Abnormal X chromosomes in man: Origin, behavior and effects. Humangenetik 25:1-16.
    • (1974) Humangenetik , vol.25 , pp. 1-16
    • Therman, E.1    Patau, K.2
  • 50
    • 0000787866 scopus 로고
    • Sex chromosomes and X chromosome inactivation
    • Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). New York: McGraw-Hill Publishing Co.
    • Willard HF (1995): 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 ED. New York: McGraw-Hill Publishing Co., pp 719-735.
    • (1995) "The Metabolic and Molecular Bases of Inherited Disease," 7th ED. , pp. 719-735
    • Willard, H.F.1
  • 51
    • 0027860527 scopus 로고
    • Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation
    • Willard HF, Brown CJ, Carrel L, Hendrich B, Miller AP (1993): Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation. Cold Spring Harbor Quant Symp Biol: 58:315-322.
    • (1993) Cold Spring Harbor Quant Symp Biol , vol.58 , pp. 315-322
    • Willard, H.F.1    Brown, C.J.2    Carrel, L.3    Hendrich, B.4    Miller, A.P.5
  • 52
    • 0027930370 scopus 로고
    • Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
    • Wolif DJ, Brown CJ, Schwartz S, Duncan AMV, Surti U, Willard HF (1994): Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations. Am J Hum Genet 55:87-95.
    • (1994) Am J Hum Genet , vol.55 , pp. 87-95
    • Wolif, D.J.1    Brown, C.J.2    Schwartz, S.3    Duncan, A.M.V.4    Surti, U.5    Willard, H.F.6
  • 53
    • 25044463378 scopus 로고
    • Deletions of ∼12 Mb of Xq including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern
    • Wolff DJ, Conroy J, Zurcher V, Gustashaw K, Ko L, VanDyke DL, Weiss L, Willard HF, Schwartz S (1995): Deletions of ∼12 Mb of Xq including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. Am J Hum Genet 57 suppl:A130.
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Wolff, D.J.1    Conroy, J.2    Zurcher, V.3    Gustashaw, K.4    Ko, L.5    VanDyke, D.L.6    Weiss, L.7    Willard, H.F.8    Schwartz, S.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.