메뉴 건너뛰기




Volumn 23, Issue 5, 2014, Pages 1224-1236

Dna methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOMES, HUMAN; CHROMOSOMES, HUMAN, X; DNA METHYLATION; GENE SILENCING; GENES, X-LINKED; HUMANS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; NUCLEOTIDE MOTIFS; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 84894101635     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt553     Document Type: Article
Times cited : (39)

References (43)
  • 1
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse (Mus musculus L.)
    • Lyon, M.F. (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
  • 2
    • 0025961771 scopus 로고
    • Agene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
    • Brown, C.J., Ballabio, A., Rupert, J.L., Lafreniere, R.G., Grompe, M., Tonlorenzi, R. and Willard, H.F. (1991)Agene 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
  • 3
    • 0030034051 scopus 로고    scopus 로고
    • XIST RNA paints the inactive X chromosome at interphase, evidence for a novel RNA involved in nuclear/chromosome structure
    • Clemson, C.M., McNeil, J.A., Willard, H.F. and Lawrence, J.B. (1996) XIST RNA paints the inactive X chromosome at interphase, evidence for a novel RNA involved in nuclear/chromosome structure. J. Cell Biol., 132, 259-275.
    • (1996) J. Cell Biol. , vol.132 , pp. 259-275
    • Clemson, C.M.1    McNeil, J.A.2    Willard, H.F.3    Lawrence, J.B.4
  • 5
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • Carrel, L. and Willard, H.F. (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature, 434, 400-404.
    • (2005) Nature , vol.434 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 6
    • 0345393236 scopus 로고    scopus 로고
    • Differential patterns of histone methylation and acetylation distinguish active and repressed alleles at X-linked genes
    • Goto, Y., Gomez,M., Brockdorff,N. and Feil, R. (2002) Differential patterns of histone methylation and acetylation distinguish active and repressed alleles at X-linked genes. Cytogenet. Genome Res., 99, 66-74.
    • (2002) Cytogenet. Genome Res. , vol.99 , pp. 66-74
    • Goto, Y.1    Gomez, M.2    Brockdorff, N.3    Feil, R.4
  • 8
    • 0020987354 scopus 로고
    • Mammalian X-chromosome inactivation
    • Gartler, S.M. and Riggs, A.D. (1983) Mammalian X-chromosome inactivation. Annu. Rev. Genet., 17, 155-190.
    • (1983) Annu. Rev. Genet. , vol.17 , pp. 155-190
    • Gartler, S.M.1    Riggs, A.D.2
  • 9
    • 0031820331 scopus 로고    scopus 로고
    • X-chromosome inactivation, a repeat hypothesis
    • Lyon, M.F. (1998) X-chromosome inactivation, a repeat hypothesis. Cytogenet. Cell Genet., 80, 133-137.
    • (1998) Cytogenet. Cell Genet. , vol.80 , pp. 133-137
    • Lyon, M.F.1
  • 10
    • 0034612238 scopus 로고    scopus 로고
    • Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation, the Lyon repeat hypothesis
    • Bailey, J.A., Carrel, L., Chakravarti, A. and Eichler, E.E. (2000) Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation, the Lyon repeat hypothesis. Proc. Natl. Acad. Sci. USA., 97, 6634-6639.
    • (2000) Proc. Natl. Acad. Sci. USA. , vol.97 , pp. 6634-6639
    • Bailey, J.A.1    Carrel, L.2    Chakravarti, A.3    Eichler, E.E.4
  • 11
    • 50849096091 scopus 로고    scopus 로고
    • Analysis of transposon interruptions suggests selection for L1 elements on the X chromosome
    • Abrusan, G., Giordano, J. and Warburton, P.E. (2008) Analysis of transposon interruptions suggests selection for L1 elements on the X chromosome. PLoS Genet., 4, e1000172.
    • (2008) PLoS Genet. , vol.4
    • Abrusan, G.1    Giordano, J.2    Warburton, P.E.3
  • 13
    • 33749368402 scopus 로고    scopus 로고
    • Evidence of influence of genomicDNAsequence on humanXchromosome inactivation
    • Wang, Z., Willard, H.F., Mukherjee, S. and Furey, T.S. (2006) Evidence of influence of genomicDNAsequence on humanXchromosome inactivation. PLoS Comput. Biol., 2, e113.
    • (2006) PLoS Comput. Biol. , vol.2
    • Wang, Z.1    Willard, H.F.2    Mukherjee, S.3    Furey, T.S.4
  • 14
  • 15
    • 33645498565 scopus 로고    scopus 로고
    • Word frequency analysis reveals enrichment of dinucleotide repeats on the human X chromosome and [GATA]n in the X escape region
    • McNeil, J.A., Smith, K.P., Hall, L.L. and Lawrence, J.B. (2006) Word frequency analysis reveals enrichment of dinucleotide repeats on the human X chromosome and [GATA]n in the X escape region. Genome Res., 16, 477-484.
    • (2006) Genome Res. , vol.16 , pp. 477-484
    • McNeil, J.A.1    Smith, K.P.2    Hall, L.L.3    Lawrence, J.B.4
  • 16
    • 0033615708 scopus 로고    scopus 로고
    • Four evolutionary strata on the human X chromosome
    • Erratum in Science, 286, 2273
    • Lahn, B.T. and Page, D.C. (1999) Four evolutionary strata on the human X chromosome. Science, 286, 964-967. Erratum in Science, 286, 2273.
    • (1999) Science , vol.286 , pp. 964-967
    • Lahn, B.T.1    Page, D.C.2
  • 17
    • 37049245274 scopus 로고
    • Mammalian X-chromosome action, inactivation limited in spread and region of origin
    • Russell, L.B. (1963) Mammalian X-chromosome action, inactivation limited in spread and region of origin. Science, 140, 976-978.
    • (1963) Science , vol.140 , pp. 976-978
    • Russell, L.B.1
  • 18
    • 0032231864 scopus 로고    scopus 로고
    • The spreading of X inactivation into autosomal material of an X;autosome translocation, evidence for a difference between autosomal and X-chromosomal, DNA
    • Erratum in Am. J. Hum. Genet., 63, 1252
    • White, W.M., Willard, H.F., Van Dyke, D.L. and Wolff, D.J. (1998) The spreading of X inactivation into autosomal material of an X;autosome translocation, evidence for a difference between autosomal and X-chromosomal, DNA. Am. J. Hum. Genet., 63, 20-28. Erratum in Am. J. Hum. Genet., 63, 1252.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 20-28
    • White, W.M.1    Willard, H.F.2    Van Dyke, D.L.3    Wolff, D.J.4
  • 19
    • 0034811136 scopus 로고    scopus 로고
    • Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation
    • Sharp, A., Robinson, D.O. and Jacobs, P. (2001) Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation. Hum. Genet., 109, 295-302.
    • (2001) Hum. Genet. , vol.109 , pp. 295-302
    • Sharp, A.1    Robinson, D.O.2    Jacobs, P.3
  • 20
    • 0036898950 scopus 로고    scopus 로고
    • Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations
    • Sharp, A.J., Spotswood, H.T., Robinson, D.O., Turner, B.M. and Jacobs, P.A. (2002) Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Hum. Mol. Genet., 11, 3145- 3156.
    • (2002) Hum. Mol. Genet. , vol.11
    • Sharp, A.J.1    Spotswood, H.T.2    Robinson, D.O.3    Turner, B.M.4    Jacobs, P.A.5
  • 22
    • 48249127946 scopus 로고    scopus 로고
    • Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)
    • Giorda, R., Bonaglia, M.C., Milani, G., Baroncini, A., Spada, F., Beri, S., Menozzi, G., Rusconi,M.and Zuffardi, O. (2008) Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1). Eur. J. Hum. Genet., 16, 897-905.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 897-905
    • Giorda, R.1    Bonaglia, M.C.2    Milani, G.3    Baroncini, A.4    Spada, F.5    Beri, S.6    Menozzi, G.7    Rusconi, M.8    Zuffardi, O.9
  • 24
    • 0032929080 scopus 로고    scopus 로고
    • H4 acetylation, XIST RNA and replication timing are coincident and define x; autosome boundaries in two abnormal X chromosomes
    • Keohane, A.M., Barlow, A.L., Waters, J., Bourn, D. and Turner, B.M. (1999) H4 acetylation, XIST RNA and replication timing are coincident and define x; autosome boundaries in two abnormal X chromosomes. Hum. Mol. Genet., 8, 377-383.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 377-383
    • Keohane, A.M.1    Barlow, A.L.2    Waters, J.3    Bourn, D.4    Turner, B.M.5
  • 25
    • 0036898974 scopus 로고    scopus 로고
    • Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin
    • Hall, L.L., Clemson, C.M., Byron, M., Wydner, K. and Lawrence, J.B. (2002) Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin. Hum. Mol. Genet., 11, 3157-3165.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 3157-3165
    • Hall, L.L.1    Clemson, C.M.2    Byron, M.3    Wydner, K.4    Lawrence, J.B.5
  • 27
  • 29
    • 74949138014 scopus 로고    scopus 로고
    • Exhaustive search for over-represented DNA sequence motifs with CisFinder
    • Sharov, A.A. and Ko, M.S. (2009) Exhaustive search for over-represented DNA sequence motifs with CisFinder. DNA Res., 16, 261-273.
    • (2009) DNA Res. , vol.16 , pp. 261-273
    • Sharov, A.A.1    Ko, M.S.2
  • 31
    • 0037162715 scopus 로고    scopus 로고
    • HIV-1 integration in the human genome favors active genes and local hotspots
    • Schroder, A.R., Shinn, P., Chen, H., Berry, C., Ecker, J.R. and Bushman, F. (2002) HIV-1 integration in the human genome favors active genes and local hotspots. Cell, 110, 521-529.
    • (2002) Cell , vol.110 , pp. 521-529
    • Schroder, A.R.1    Shinn, P.2    Chen, H.3    Berry, C.4    Ecker, J.R.5    Bushman, F.6
  • 32
    • 0142227237 scopus 로고    scopus 로고
    • Targeting survival: integration site selection by retroviruses and LTR-retrotransposons
    • Bushman, F.D. (2003) Targeting survival: integration site selection by retroviruses and LTR-retrotransposons. Cell, 115, 135-138.
    • (2003) Cell , vol.115 , pp. 135-138
    • Bushman, F.D.1
  • 33
    • 34547635063 scopus 로고    scopus 로고
    • HIV Integration site selection: analysis by massively parallel pyrosequencing reveals association with epigenetic modifications
    • Wang, G.P., Ciuffi, A., Leipzig, J., Berry, C.C. and Bushman, F.D. (2007) HIV Integration site selection: analysis by massively parallel pyrosequencing reveals association with epigenetic modifications. Genome Res., 17, 1186-1194.
    • (2007) Genome Res. , vol.17 , pp. 1186-1194
    • Wang, G.P.1    Ciuffi, A.2    Leipzig, J.3    Berry, C.C.4    Bushman, F.D.5
  • 35
    • 0042692850 scopus 로고    scopus 로고
    • High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes
    • Allen, E., Horvath, S., Tong, F., Kraft, P., Spiteri, E., Riggs, A.D. and Marahrens, Y. (2003) High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes. Proc. Natl. Acad. Sci. USA., 100, 9940-9945.
    • (2003) Proc. Natl. Acad. Sci. USA. , vol.100 , pp. 9940-9945
    • Allen, E.1    Horvath, S.2    Tong, F.3    Kraft, P.4    Spiteri, E.5    Riggs, A.D.6    Marahrens, Y.7
  • 36
    • 0037039323 scopus 로고    scopus 로고
    • Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome
    • Greally, J.M. (2002) Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome. Proc. Natl. Acad. Sci. USA., 99, 327-332.
    • (2002) Proc. Natl. Acad. Sci. USA. , vol.99 , pp. 327-332
    • Greally, J.M.1
  • 37
    • 0036855420 scopus 로고    scopus 로고
    • The distinguishing sequence characteristics of mouse imprinted genes
    • Ke, X., Thomas, N.S., Robinson, D.O. and Collins, A. (2002) The distinguishing sequence characteristics of mouse imprinted genes. Mamm. Genome, 13, 639-645.
    • (2002) Mamm. Genome , vol.13 , pp. 639-645
    • Ke, X.1    Thomas, N.S.2    Robinson, D.O.3    Collins, A.4
  • 38
    • 0026890665 scopus 로고
    • Chromosome bands, their chromatin flavors, and their functional features
    • Holmquist, G.P. (1992) Chromosome bands, their chromatin flavors, and their functional features. Am. J. Hum. Genet., 51, 17-37.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 17-37
    • Holmquist, G.P.1
  • 39
    • 23844548542 scopus 로고    scopus 로고
    • The relationship between chromatin structure and transcriptional activity in mammalian genomes
    • Gilbert, N. and Ramsahoye, B. (2005) The relationship between chromatin structure and transcriptional activity in mammalian genomes. Brief Funct. Genomic Proteomic., 4, 129-142.
    • (2005) Brief Funct. Genomic Proteomic. , vol.4 , pp. 129-142
    • Gilbert, N.1    Ramsahoye, B.2
  • 41
    • 84871689338 scopus 로고    scopus 로고
    • Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility
    • Mercer, C.L., Lachlan, K., Karcanias, A., Affara, N., Huang, S., Jacobs, P.A. and Thomas, N.S. (2013) Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. Eur. J. Med. Genet., 56, 1-6.
    • (2013) Eur. J. Med. Genet. , vol.56 , pp. 1-6
    • Mercer, C.L.1    Lachlan, K.2    Karcanias, A.3    Affara, N.4    Huang, S.5    Jacobs, P.A.6    Thomas, N.S.7
  • 42
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: a flexible suite of utilities for comparing genomic features
    • Quinlan, A.R. and Hall, I.M. (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics, 26, 841-842.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 43
    • 0034201441 scopus 로고    scopus 로고
    • EMBOSS, the European molecular biology open software suite
    • Rice, P., Longden, I. and Bleasby, A. (2000) EMBOSS, the European molecular biology open software suite. Trends Genet., 16, 276-277.
    • (2000) Trends Genet. , vol.16 , pp. 276-277
    • Rice, P.1    Longden, I.2    Bleasby, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.