Non-random X chromosome inactivation in mammalian cells

Cytogenetics and Cell Genetics

Volumn 80, Issue 1-4, 1998, Pages 142-148

  Migeon, Barbara R ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ISOMER; HUMAN; INBRED STRAIN; MAMMAL; MARSUPIAL; MOUSE; MUTATION; NONHUMAN; PLACENTA; PRIORITY JOURNAL; REVIEW; X CHROMOSOME INACTIVATION;

MAMMALIA; METATHERIA; MURINAE;

EID: 0031821968     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000014971     Document Type: Review

References (54)

1. Armstrong SJ, Hulten MA, Keohane AM, Turner BM: Different strategies of X inactivation in germinal and somatic cells: histone H4 underacetylation does not mark the inactive X chromosome in the mouse male germline. Exp Cell Res 230:399-402 (1997).
2. Belmont JW: Genetic Control of X inactivation and processes leading to X-inactivation skewing. Am J hum Genet 58:1101-1108 (1996).
3. Brockdorff N, Ashworth A, Kay G, McCabe V, Norris DP, Cooper P, Swift S, et al: The product of the mouse Xist gene is a 15-kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell 71:515-526 (1992).
4. Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y, Lawrence J, Willard HF: The human XIST gene: analysis of a 17-kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71:527-542 (1992).
5. Busque L, Mio R, Mattioli J, Brais E, Blais N, Lalonde Y, Maragh M, et al: Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 88:59-65 (1996).
6. Cattanach BM: Control of chromosome inactivation. Ann Rev Genet 9:1-18 (1975).
7. Chapman VM: X chromosome regulation in oogenesis and early mammalian development, in Rossant J, Pedersen R (eds): Experimental Approaches to Mammalian Embryonic Development, pp 365-398 (Cambridge University Press, Cambridge, 1986).
8. Cooper DW, VandeBerg JL, Sharman GB, Poole WE: Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation. Nature New Biology 230:155-157 (1971).
9. Dewey MJ, Martin DJ, Martin G, Mintz B: Mosaic mice with teratocarcinoma-derived mutant cells deficient in hypoxanthine phosphoribosyltransferase. Proc natl Acad Sci, USA 74:5564-5568 (1977).
10. Disteche CM: The great escape. Am J hum Genet 60:1312-1315 (1997).
11. Disteche CM, Eicher EM, Latt SA: Late replication in X-autosomal translocations in the mouse: correlation with genetic inactivation and evidence for selective effects during embyogenesis. Proc natl Acad Sci, USA 76:5234-8 (1979).
12. Graves JAM: Mammals that break the rules: genetics of marsupials and monotremes. Annual Rev Genet 30:233-260 (1996).
13. Harris H: The Principals of Human Biochemical Genetics. (Elsevier/North Holland, Amsterdam 1980).
14. Harrison KB: X-chromosome inactivation in the human cytotrophoblast. Cytogenet Cell Genet 52:37-41 (1989).
15. Heard E, Clerc P, Avner P: X-chromosome inactivation in mammals. Ann Rev Genet 31:572-610 (1997).
16. Herzing LBK, Romer JT, Horn JM, Ashworth A: Xist has properties of the X-chromosome inactivation centre. Nature 386:272-275 (1997).
17. Jacobs PA, Migeon BR: Studies of X-chromosome inactivation in trisomies. Cytogenet Cell Genet 50:75-77 (1989).
18. Johnston PG, Robinson ES: X chromosome inactivation in female embryos of a marsupial mouse (Antechinus stuartii). Chromosoma 95:419-423 (1987).
19. Kaslow DC, Migeon BR: DNA methylation stabilizes X chromosome inactivation in eutherians but not in marsupials: evidence for multi-step maintenance of mammalian X-dosage compensation. Proc natl Acad Sci, USA 84:6210-6214 (1987).
20. Kay GF, Barton S, Surani MA, Rastan S: Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development. Cell 77:639-650 (1994).
21. Lau AW, Brown CJ, Penaherrera M, Langlois S, Kalousek D, Robinson WP: Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J hum Genet 61:1353-1362 (1997).
22. Lee JT, Jaenisch R: Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nature 386:275-279 (1997).
23. Lee JT, Strauss WM, Dausman JA, Jaenisch R: A 450-kb transgene displays properties of the mammalian X-inactivation center. Cell 86:83-94 (1996).
24. Lyon MF: Gene action in the X chromosome of the mouse. Nature 190:372-373 (1961).
25. Marahrens Y, Panning B, Dausman J, Strauss W, Jaenisch R: Xist-deficient mice are defective in dosage compensation but not spermatogenesis. Genes Dev 11:156-166 (1997).
26. McCarrey JR, Berg WM, Paragioudakis SJ, Zhang PL, Dilsworth DD, Arnold BL, Rossi JJ: Differential transcription of Pgk genes during spermatogenesis in the mouse. Dev Biol 154:160-168 (1992).
27. Migeon BR: Selection and cell communication as determinants of female phenotype, in Russell LB (ed): Genetic Mosaics and Chimeras in Mammals, pp 417-432 (Plenum 1978).
28. Migeon BR: Insights into X chromosome inactivation from studies of species variation, DNA methylation and replication, and vice versa. Genetical Res (Cambridge) 56:91-98 (1990).
29. Migeon BR: X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet 10:230-235 (1994).
30. Migeon BR, Axelman J, Beggs AH: Effect of ageing on reactivation of the human X-linked HPRT locus. Nature 335:93-96 (1988).
31. Migeon BR, Do TT: In search of non-random X inactivation: Studies of fetal membranes heterozygous forglucose-6-phosphate dehydrogenase. Am J hum Genet 31:581-585 (1979).
32. Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpaper BJ, et al: Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J hum Genet 58:161-170 (1996).
33. Migeon BR, Luo S, Jani M, Jeppesen P: 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).
34. Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL, Weiss L, et al: Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc natl Acad Sci, USA 90:12025-12029 (1993).
35. Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, et al: Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. Genomics 16:20-25 (1993).
36. Migeon BR, Moser HW, Moser AB, Sprenkle JA, Sillence D, Norum RA: Adrenoleukodystrophy: evidence for X-linkage, inactivation and selection favoring the mutant allele in heterozygous cells. Proc natl Acad Sci, USA 78:5066-5070 (1981).
37. Migeon BR, Wolf SF, Axelman J, Kaslow DC, Schmidt M: Incomplete X dosage compensation in chorionic villi of human placenta. Proc natl Acad Sci, USA 82:3390-3394 (1985).
38. Mondello C, Goodfellow PJ, Goodfellow PN: Analysis of methylation of a human X located gene which escapes X inactivation. Nucl Acids Res 16:6813-6824 (1988).
39. Nance WE: Do twin lyons have larger spots? Am J hum Genet 46:646-648 (1990).
40. Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C: Heritability of X chromosome-inactivation phenotype in a large family. Am J hum Genet 58:1111-1119 (1996).
41. Morris NP, Patel D, Kay GF, Penny GD, Brockdorff N, Sheardown SA, Rastan S: Evidence that random and imprinted Xist expression is controlled by preemptive methylation. Cell 77:41-51 (1994).
42. Nyhan WL, Bakay B, Connor JD, Marks JF, Keele DK: Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterzoygotes for the Lesch-Nyhan syndrome. Proc natl Acad Sci, USA 65:214-218 (1970).
43. Ohno S: Sex Chromosomes and Sex-Linked Genes. (Springer-Verlag, Berlin 1967).
44. Ohno S, Beçak W, Beçak ML: X-autosome ratio and the behaviour pattern of individual X-chromosomes in placental mammals. Chromosoma 15:14-30 (1964).
45. Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorff N: Requirements for Xist in X chromosome inactivation. Nature 379:131-137 (1996).
46. Plenge RM, Hendrich BD, Schwartz C, Arena F, Naumova A, Sapienza C, Winter RM, Willard HF: A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nature Genet 17:353-356 (1997).
47. Rastan S: Timing of X-chromosome inactivation in postimplantation mouse embryos. J Embryol Exp Morph 71:11-24. (1982).
48. Rastan SJ: Non-random X-chromosome inactivation in mouse X-autosome translocation embryos - location of the inactivation centre. J Embryol. Exp Morph 78:1-22 (1983).
49. Ropers HH, Wolf G, Hitzeroth HW: Preferential X-inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals? Hum Genet 43:265-273 (1978).
50. Singer-Sam J, Robinson MO, Belive AR, Simon MI, Riggs AD: Measurement by quantitative PCR of changes in Hprt, Pgk-1, Mtase, and Zfy gene transcripts during mouse spermatogenesis. Nucl Acids Res 18:1255-1259 (1990).
51. Sugawara O, Takagi N, Sasaki M: Correlation between X-chromosome inactivation and cell differentiation in female preimplantation mouse embryos. Cytogenet Cell Genet 39:210-219 (1985).
52. Takagi N, Sasaki M: Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256: 640-642 (1975).
53. Takagi N, Sugawara O, Sasaki M: Regional and temporal changes in the pattern of X-chromosome replication during the early post-implantation development of the female mouse. Chromosoma 85:275-286 (1982).
54. van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Ruther K, Kohler K, et al: Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet 6:851-858 (1997).