메뉴 건너뛰기




Volumn 42, Issue 5, 2005, Pages 420-427

Variability of sexual phenotype in 46,XX(SRY+) patients: The influence of spreading X inactivation versus position effects

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; GENE EXPRESSION; HUMAN; HUMAN CELL; PHENOTYPE; POSITION EFFECT; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; VIRILIZATION; X CHROMOSOME INACTIVATION;

EID: 18844411825     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.022053     Document Type: Article
Times cited : (26)

References (45)
  • 1
    • 0027437257 scopus 로고
    • The pseudoautosomal regions of human sex chromosomes
    • Rappold GA. The pseudoautosomal regions of human sex chromosomes. Hum Genet 1993;92:315-24.
    • (1993) Hum Genet , vol.92 , pp. 315-324
    • Rappold, G.A.1
  • 3
    • 0014029835 scopus 로고
    • X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome
    • Ferguson-Smith MA. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 1966;ii:475-6.
    • (1966) Lancet , vol.2 , pp. 475-476
    • Ferguson-Smith, M.A.1
  • 4
    • 0023263601 scopus 로고
    • Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males
    • Page DC, Brown LG, de la Chapelle A. Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature 1987;328:437-40.
    • (1987) Nature , vol.328 , pp. 437-440
    • Page, D.C.1    Brown, L.G.2    De La Chapelle, A.3
  • 6
    • 0025045875 scopus 로고
    • A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary
    • Jager RJ, Ebensperger C, Fraccaro M, Scherer G. A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. Hum Genet 1990;85:666-8.
    • (1990) Hum Genet , vol.85 , pp. 666-668
    • Jager, R.J.1    Ebensperger, C.2    Fraccaro, M.3    Scherer, G.4
  • 10
    • 0028154665 scopus 로고
    • Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX moleness
    • Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX moleness. Nat Genet 1994;7:414-9.
    • (1994) Nat Genet , vol.7 , pp. 414-419
    • Weil, D.1    Wang, I.2    Dietrich, A.3    Poustka, A.4    Weissenbach, J.5    Petit, C.6
  • 11
    • 0030828763 scopus 로고    scopus 로고
    • Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of oil (Y+)XX moles ond (Y-)XY females
    • Schiebel K, Winkelmonn M, Mertz A, Xu X, Poge DC, Weil D, Petit C, Roppold GA. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of oil (Y+)XX moles ond (Y-)XY females. Hum Mol Genet 1997;6:1985-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1985-1989
    • Schiebel, K.1    Winkelmonn, M.2    Mertz, A.3    Xu, X.4    Poge, D.C.5    Weil, D.6    Petit, C.7    Roppold, G.A.8
  • 15
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse (Mus musculus L.)
    • Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372-3.
    • (1961) Nature , vol.190 , pp. 372-373
    • Lyon, M.F.1
  • 17
    • 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
    • White WM, Willard HF, Van Dyke DL, Wolff DJ. 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 1998;63:20-8.
    • (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
  • 18
    • 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, Jacobs P. Absence of correlation between late replication and spreading of X inactivation in an X;autosome translocation. Hum Genet 2001;109:295-302.
    • (2001) Hum Genet , vol.109 , pp. 295-302
    • Sharp, A.1    Robinson, D.2    Jacobs, P.3
  • 19
    • 0036898950 scopus 로고    scopus 로고
    • Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations
    • Sharp AJ, Spotswood HT, Robinson DO, Turner BM, Jacobs PA. Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Hum Mol Genet 2002;11:3145-56.
    • (2002) Hum Mol Genet , vol.11 , pp. 3145-3156
    • Sharp, A.J.1    Spotswood, H.T.2    Robinson, D.O.3    Turner, B.M.4    Jacobs, P.A.5
  • 20
    • 0020446476 scopus 로고
    • Male, female and intersex development in mice of identical chromosome constitution
    • Cattanach BM, Evans EP, Burtenshaw MD, Barlow J. Male, female and intersex development in mice of identical chromosome constitution. Nature 1982;300:445-6.
    • (1982) Nature , vol.300 , pp. 445-446
    • Cattanach, B.M.1    Evans, E.P.2    Burtenshaw, M.D.3    Barlow, J.4
  • 21
    • 0020366681 scopus 로고
    • Fertile females produced by inactivation of an X chromosome of 'sex-reversed' mice
    • McLaren A, Monk M. Fertile females produced by inactivation of an X chromosome of 'sex-reversed' mice. Nature 1982;300:446-8.
    • (1982) Nature , vol.300 , pp. 446-448
    • McLaren, A.1    Monk, M.2
  • 22
    • 0026019029 scopus 로고
    • Variable spread of X inactivation affecting the expression of different epitopes of the Hya gene product in mouse B-cell clones
    • Scott D, McLaren A, Dyson J, Simpson E. Variable spread of X inactivation affecting the expression of different epitopes of the Hya gene product in mouse B-cell clones. Immunogenetics 1991;33:54-61.
    • (1991) Immunogenetics , vol.33 , pp. 54-61
    • Scott, D.1    McLaren, A.2    Dyson, J.3    Simpson, E.4
  • 25
    • 0030057538 scopus 로고    scopus 로고
    • Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOXP
    • Wirth J, Wagner T, Meyer J, Pfeiffer RA, Tietze HU, Schempp W, Scherer G. Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOXP. Hum Genet 1996;97:186-93.
    • (1996) Hum Genet , vol.97 , pp. 186-193
    • Wirth, J.1    Wagner, T.2    Meyer, J.3    Pfeiffer, R.A.4    Tietze, H.U.5    Schempp, W.6    Scherer, G.7
  • 28
    • 0026663665 scopus 로고
    • A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: A cytogenetic and molecular study
    • Coles K, Mackenzie M, Crolla J, Harvey J, Starr J, Howard F, Jacobs P. A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. J Med Genet 1992;29:400-6.
    • (1992) J Med Genet , vol.29 , pp. 400-406
    • Coles, K.1    Mackenzie, M.2    Crolla, J.3    Harvey, J.4    Starr, J.5    Howard, F.6    Jacobs, P.7
  • 30
    • 0033762221 scopus 로고    scopus 로고
    • Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
    • Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000;107:343-9.
    • (2000) Hum Genet , vol.107 , pp. 343-349
    • Sharp, A.1    Robinson, D.2    Jacobs, P.3
  • 31
    • 0034426034 scopus 로고    scopus 로고
    • Hot-stop PCR: A simple and general assay for linear quantification of allele ratios
    • Uejima H, Lee MP, Cui H, Feinberg AP. Hot-stop PCR: a simple and general assay for linear quantification of allele ratios. Nat Genet 2000;25:375-6.
    • (2000) Nat Genet , vol.25 , pp. 375-376
    • Uejima, H.1    Lee, M.P.2    Cui, H.3    Feinberg, A.P.4
  • 32
    • 0036900297 scopus 로고    scopus 로고
    • Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome
    • Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet 2002;11:3237-48.
    • (2002) Hum Mol Genet , vol.11 , pp. 3237-3248
    • Prakash, S.K.1    Cormier, T.A.2    McCall, A.E.3    Garcia, J.J.4    Sierra, R.5    Haupt, B.6    Zoghbi, H.Y.7    Van Den Veyver, I.B.8
  • 39
    • 0026594565 scopus 로고
    • Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion
    • Giacalone JP, Francke U. Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet 1992;50:725-41.
    • (1992) Am J Hum Genet , vol.50 , pp. 725-741
    • Giacalone, J.P.1    Francke, U.2
  • 41
    • 0034754559 scopus 로고    scopus 로고
    • High resolution comparative genomic hybridisation in clinical cytogenetics
    • Kirchdoff M, Rose H, Lundsteen C. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 2001;38:740-4.
    • (2001) J Med Genet , vol.38 , pp. 740-744
    • Kirchdoff, M.1    Rose, H.2    Lundsteen, C.3
  • 42
    • 0025283641 scopus 로고
    • Additional deletion in sex determining region of human Y chromosome resolves paradox of X,t(Y;22) female
    • Page DC, Fisher EM, McGillivray B, Brown LG. Additional deletion in sex determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature 1990;346:279-81.
    • (1990) Nature , vol.346 , pp. 279-281
    • Page, D.C.1    Fisher, E.M.2    McGillivray, B.3    Brown, L.G.4
  • 43
    • 0033598745 scopus 로고    scopus 로고
    • Promoter-specific hypoacetylation of X-inactivated genes
    • Gilbert SL, Sharp PA. Promoter-specific hypoacetylation of X-inactivated genes. Proc Natl Acad Sci U S A 1999;96:13825-30.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 13825-13830
    • Gilbert, S.L.1    Sharp, P.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.