메뉴 건너뛰기




Volumn 64, Issue 3, 1999, Pages 759-767

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDE;

EID: 0033361882     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302286     Document Type: Article
Times cited : (30)

References (41)
  • 2
    • 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 RC, 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.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 3
    • 0028902269 scopus 로고
    • Insights into lymphocyte development from X-linked immune deficiencies
    • Belmont JW (1995) Insights into lymphocyte development from X-linked immune deficiencies. Trends Genet 11: 112-116
    • (1995) Trends Genet , vol.11 , pp. 112-116
    • Belmont, J.W.1
  • 4
    • 0029885015 scopus 로고    scopus 로고
    • Genetic control of X inactivation and processes leading to X-inactivation skewing
    • -(1996) Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 58: 1101-1108
    • (1996) Am J Hum Genet , vol.58 , pp. 1101-1108
  • 5
    • 0031909972 scopus 로고    scopus 로고
    • Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis
    • Blair HJ, Gormally E, Uwechue IC, Boyd Y (1998) Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet 7:549-555
    • (1998) Hum Mol Genet , vol.7 , pp. 549-555
    • Blair, H.J.1    Gormally, E.2    Uwechue, I.C.3    Boyd, Y.4
  • 6
    • 0030952221 scopus 로고    scopus 로고
    • Expression of genes from the active and inactive X chromosomes
    • Brown CJ, Carrel L, Willard HF (1997) Expression of genes from the active and inactive X chromosomes. Am J Hum Genet 60:1333-1343
    • (1997) Am J Hum Genet , vol.60 , pp. 1333-1343
    • Brown, C.J.1    Carrel, L.2    Willard, H.F.3
  • 7
    • 0029901946 scopus 로고    scopus 로고
    • Nonrandom X-inactivation patterns in normal females: Lyonization ratios vary with age
    • Busque L, Mio R, Mattioli J, Brais E, Blais N, Lalonde Y, Maragh M, et al (1996) Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 88:59-65
    • (1996) Blood , vol.88 , pp. 59-65
    • Busque, L.1    Mio, R.2    Mattioli, J.3    Brais, E.4    Blais, N.5    Lalonde, Y.6    Maragh, M.7
  • 9
    • 0014143246 scopus 로고
    • Controlling elements in the mouse X chromosome
    • Cattanach BM, Isaacson JH (1967) Controlling elements in the mouse X chromosome. Genetics 57:331-346
    • (1967) Genetics , vol.57 , pp. 331-346
    • Cattanach, B.M.1    Isaacson, J.H.2
  • 10
    • 0031832579 scopus 로고    scopus 로고
    • Role of the region 3′ to Xist exon 6 in the counting process of X-chromosome inactivation
    • Clerc P, Avner P (1998) Role of the region 3′ to Xist exon 6 in the counting process of X-chromosome inactivation. Nat Genet 19:249-253
    • (1998) Nat Genet , vol.19 , pp. 249-253
    • Clerc, P.1    Avner, P.2
  • 13
    • 0027958082 scopus 로고
    • Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27β DNA probe
    • Fey MF, Liechti-Gallati S, Rohr AV, Borisch B, Theilkas L, Schneider V, Oestreicher M, et al (1994) Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27β DNA probe. Blood 83:931-938
    • (1994) Blood , vol.83 , pp. 931-938
    • Fey, M.F.1    Liechti-Gallati, S.2    Rohr, A.V.3    Borisch, B.4    Theilkas, L.5    Schneider, V.6    Oestreicher, M.7
  • 14
    • 0029842792 scopus 로고    scopus 로고
    • Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphare dehydrogenase mutations causing severe enzyme deficiency
    • Filosa S, Giacometti N, Wangwei C, De Mattia D, Pagnini D, Alfinito F, Schettini F, et al (1996) Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphare dehydrogenase mutations causing severe enzyme deficiency. Am J Hum Genet 59: 887-895
    • (1996) Am J Hum Genet , vol.59 , pp. 887-895
    • Filosa, S.1    Giacometti, N.2    Wangwei, C.3    De Mattia, D.4    Pagnini, D.5    Alfinito, F.6    Schettini, F.7
  • 15
    • 0026687110 scopus 로고
    • X-linked α-thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis
    • Gibbons RJ, Suthers GK, Wilkie OM, Buckle VJ, Higgs DR (1992) X-linked α-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 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, G.K.2    Wilkie, O.M.3    Buckle, V.J.4    Higgs, D.R.5
  • 16
    • 0027207244 scopus 로고
    • Evolutionary conservation of possible functional domains of the human and murine XIST genes
    • Hendrich B, Brown C, Willard H (1993) Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum Mol Genet 2:663-672
    • (1993) Hum Mol Genet , vol.2 , pp. 663-672
    • Hendrich, B.1    Brown, C.2    Willard, H.3
  • 17
    • 0031001346 scopus 로고    scopus 로고
    • Xist has properties of the X-chromosome inactivation centre
    • Herzing LB, Romer JT, Horn JM, Ashworth A (1997) Xist has properties of the X-chromosome inactivation centre. Nature 386:272-275
    • (1997) Nature , vol.386 , pp. 272-275
    • Herzing, L.B.1    Romer, J.T.2    Horn, J.M.3    Ashworth, A.4
  • 18
    • 0019403820 scopus 로고
    • Nerve deafness: Optic nerve atrophy and dementia: A new X-linked recessive syndrome?
    • Jensen PKA (1981) Nerve deafness: optic nerve atrophy and dementia: a new X-linked recessive syndrome? Am J Med Genet 9:55-60
    • (1981) Am J Med Genet , vol.9 , pp. 55-60
    • Jensen, P.K.A.1
  • 19
    • 16044366597 scopus 로고    scopus 로고
    • A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental retardation, and blindness
    • Jin H, May M, Tranebjaerg L, Kendall E, Fontan G, Jackson J, Subramony SH, et al (1996) A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental retardation, and blindness. Nat Genet 14: 177-180
    • (1996) Nat Genet , vol.14 , pp. 177-180
    • Jin, H.1    May, M.2    Tranebjaerg, L.3    Kendall, E.4    Fontan, G.5    Jackson, J.6    Subramony, S.H.7
  • 20
    • 0019425164 scopus 로고
    • Controlling elements in the mouse IV: Evidence of non-random X-inactivation
    • Johnston PG, Cattanach BM (1981) Controlling elements in the mouse IV: evidence of non-random X-inactivation. Genet Res 37:151-160
    • (1981) Genet Res , vol.37 , pp. 151-160
    • Johnston, P.G.1    Cattanach, B.M.2
  • 21
    • 0022590011 scopus 로고
    • Expression of X-linked phosphoglycerate kinase in early mouse embryos homozygous at the Xce locus
    • Krietsch W, Fehlau M, Renner P, Bucher T, Fundele R (1986) Expression of X-linked phosphoglycerate kinase in early mouse embryos homozygous at the Xce locus. Differentiation 31:50-54
    • (1986) Differentiation , vol.31 , pp. 50-54
    • Krietsch, W.1    Fehlau, M.2    Renner, P.3    Bucher, T.4    Fundele, R.5
  • 22
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly M, Reeve-Daly M, Lander E (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.2    Reeve-Daly, M.3    Lander, E.4
  • 24
    • 0030581152 scopus 로고    scopus 로고
    • A 450 kb transgene displays properties of the mammalian X-inactivation center
    • Lee JT, Strauss WM, Dausman JA, Jaenisch R (1996) A 450 kb transgene displays properties of the mammalian X-inactivation center. Cell 86:83-94
    • (1996) Cell , vol.86 , pp. 83-94
    • Lee, J.T.1    Strauss, W.M.2    Dausman, J.A.3    Jaenisch, R.4
  • 25
    • 0018674358 scopus 로고
    • Imbalance in X-chromosome expression: Evidence for a human X-linked gene affecting growth of hemopoietic cells
    • Luzzatto L, Usanga EA, Bienzle U, Esan GFJ, Fasuan FA (1979) Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. Science 205:1418-1420
    • (1979) Science , vol.205 , pp. 1418-1420
    • Luzzatto, L.1    Usanga, E.A.2    Bienzle, U.3    Esan, G.F.J.4    Fasuan, F.A.5
  • 26
    • 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
  • 27
    • 0032489426 scopus 로고    scopus 로고
    • Role of the Xist gene in X chromosome choosing
    • Marahrens Y, Loring J, Jaenisch R (1998) Role of the Xist gene in X chromosome choosing. Cell 92:657-664
    • (1998) Cell , vol.92 , pp. 657-664
    • Marahrens, Y.1    Loring, J.2    Jaenisch, R.3
  • 28
    • 0031044166 scopus 로고    scopus 로고
    • Xist-deficient mice are defective in dosage compensation but not spermatogenesis
    • Marahrens Y, Panning B, Dausman J, Strauss W, Jaenisch R (1997) Xist-deficient mice are defective in dosage compensation but not spermatogenesis. Genes Dev 11:156-166
    • (1997) Genes Dev , vol.11 , pp. 156-166
    • Marahrens, Y.1    Panning, B.2    Dausman, J.3    Strauss, W.4    Jaenisch, R.5
  • 29
    • 78651162899 scopus 로고
    • Genetic tests with a sex-linked marker: Glucose-6-phosphate dehydrogenase
    • Nance WE (1964) Genetic tests with a sex-linked marker: glucose-6-phosphate dehydrogenase. Cold Spring Harbor Symp Quant Biol 29:415-424
    • (1964) Cold Spring Harbor Symp Quant Biol , vol.29 , pp. 415-424
    • Nance, W.E.1
  • 31
    • 0029888521 scopus 로고    scopus 로고
    • Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
    • Orstavik K, Orstavik R, Eiklid K, Tranebjaerg L (1996) Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome. Am J Med Genet 64:31-34
    • (1996) Am J Med Genet , vol.64 , pp. 31-34
    • Orstavik, K.1    Orstavik, R.2    Eiklid, K.3    Tranebjaerg, L.4
  • 34
    • 0029846444 scopus 로고    scopus 로고
    • Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2
    • Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet 5:1777-1783
    • (1996) Hum Mol Genet , vol.5 , pp. 1777-1783
    • Parrish, J.E.1    Scheuerle, A.E.2    Lewis, R.A.3    Levy, M.L.4    Nelson, D.L.5
  • 35
    • 0030792801 scopus 로고    scopus 로고
    • Familial skewed X inactivation: A molecular trait associated with high spontaneous-abortion rate maps to Xq28
    • Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, Hoffman EP (1997) Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet 61:160-170
    • (1997) Am J Hum Genet , vol.61 , pp. 160-170
    • Pegoraro, E.1    Whitaker, J.2    Mowery-Rushton, P.3    Surti, U.4    Lanasa, M.5    Hoffman, E.P.6
  • 38
    • 0032576744 scopus 로고    scopus 로고
    • X inactivation in females with X-linked disease
    • Puck JM, Willard HF (1998) X inactivation in females with X-linked disease, N Engl J Med 338:325-328
    • (1998) N Engl J Med , vol.338 , pp. 325-328
    • Puck, J.M.1    Willard, H.F.2
  • 40
    • 0028935319 scopus 로고
    • A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
    • Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson R, et al (1995) A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32:257-263
    • (1995) J Med Genet , vol.32 , pp. 257-263
    • Tranebjaerg, L.1    Schwartz, C.2    Eriksen, H.3    Andreasson, S.4    Ponjavic, V.5    Dahl, A.6    Stevenson, R.7
  • 41
    • 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. McGraw-Hill, New York, pp 719-737
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 719-737
    • Willard, H.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.