Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin

Human Molecular Genetics

Volumn 11, Issue 25, 2002, Pages 3157-3165

  Hall, Lisa L ^a   Clemson, Christine M ^a   Byron, Meg ^a   Wydner, Karen ^b   Lawrence, Jeanne B ^b  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NUCLEAR RNA; PROTEIN XIST; UNCLASSIFIED DRUG; UNTRANSLATED RNA; X (INACTIVE) SPECIFIC TRANSCRIPT (XIST); X (INACTIVE)-SPECIFIC TRANSCRIPT (XIST);

BINDING AFFINITY; CASE REPORT; CHROMATIN; CHROMOSOME ANALYSIS; CHROMOSOME INACTIVATION; CHROMOSOME MARKER; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 9; CHROMOSOME TRANSLOCATION X; CONTROLLED STUDY; FEMALE; FETUS DEVELOPMENT; FIBROBLAST; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; KLINEFELTER SYNDROME; MALE; MORPHOLOGICAL TRAIT; PRIORITY JOURNAL; REVIEW; RNA SEQUENCE; TRISOMY; TURNER SYNDROME; ADULT; ARTICLE; CELL LINE; CHEMISTRY; CHROMOSOME PAINTING; GENE EXPRESSION REGULATION; GENE SILENCING; GENE TRANSLOCATION; GENETICS; KARYOTYPING; METABOLISM; METHODOLOGY; NUCLEOTIDE SEQUENCE; PATHOLOGY; X CHROMOSOME;

ADULT; BASE SEQUENCE; CELL LINE; CHROMATIN; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, X; DOSAGE COMPENSATION, GENETIC; FEMALE; FIBROBLASTS; GENE SILENCING; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; RNA, UNTRANSLATED; TRANSLOCATION, GENETIC; TURNER SYNDROME;

EID: 0036898974     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.25.3157     Document Type: Review

References (55)

1. Brockdorff, N. and Duthie, S.M. (1998) X chromosome inactivation and the Xist gene. Cell. Mol. Life Sci., 54, 104-112.
2. Brown, C.J., Hendrich, B.D., Rupert, J.L., Lafreniere, R.G., Xing, Y., Lawrence, J.B. and Willard, H.F. (1992) 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.
3. Brockdorff, N., Ashworth, A., Kay, G.F., McCabe, V.M., Norris, D.P., Cooper, P.J., Swift, S. and Rastan, S. (1992) 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.
4. Penny, G.D., Kay, G.F., Sheardown, S.A., Rastan, S. and Brockdorff, N. (1996) Requirement for XIST in X chromosome inactivation. Nature, 379, 131-137.
5. Marahens, Y., Panning, B., Dausman, J., Strauss, W. and Jaenisch, R. (1997) Xist deficient mice are defective in dosage compensation but not spermatogenesis. Genes & Dev., 11, 156-166.
6. Lee, J.T. and Jaenisch, R. (1997) Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nature, 386, 275-279.
7. Herzing, L.B.K., Romer, J.T., Horn, J.M. and Ashworth, A. (1997) Xist has properties of the X-chromosome inactivation centre. Nature, 386, 272-275.
8. 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.
9. Tinker, A.V. and Brown, C.J. (1998) Induction of XIST expression from the human active X chromosome in mouse/human somatic cell hybrids by DNA demethylation. Nuclear Acids Res., 26, 2935-2940.
10. Csankovszki, G., Panning, B., Bates, B., Pehrson, J.R. and Jaenisch, R. (1999) Conditional deletion of Xist disrupts histone macroH2A localization but not maintenance of X inactivation [letter]. Nat. Genet., 22, 323-324.
11. Csankovszki, G., Nagy, A. and Jaenisch, R. (2001) Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation. J. Cell Biol., 153, 773-783.
12. Lee, J.T., Strauss, W.M., Dausman, J.A. and Jaenisch, R. (1996) A 450 kb transgene displays properties of the mammalian X-inactivation center. Cell, 86, 83-94.
13. Lee, J.T., Lu, N. and Han, Y (1999) Genetic analysis of the mouse X inactivation center defines and 80 kb multifunction domain. Proc. Natl Acad. Sci. USA, 96, 3836-3841.
14. Wutz, A. and Jaenisch, R. (2000) A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation. Mol. Cell, 5, 695-705.
15. Duthie, S.M., Nesterova, T.B., Formstone, E.J., Keohane, A.M., Turner, B.M., Zakian, S.M. and Brockdorff, N. (1999) Xist RNA exhibits a banded localization on the inactive X chromosome and is excluded from autosomal material in cis. Hum. Mol. Genet., 8, 195-204.
16. 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.
17. Allderdice, P.W., Miller, O.J., Miller, D.A. and Klinger, H.P. (1978) Spreading of inactivation in an (X;14) translocation. Am. J. Med. Genet., 2, 233-240,
18. Leisti, J.T., Kaback, M.M. and Rimoin, D.L. (1975) Human X-autosome translocations: Differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am. J. Hum. Genet., 27, 441-453.
19. Pallister, P.D. and Opitz, J.M. (1978) The KOP Translocation. Birth Defects: Original Article Series, 14, 133-146.
20. Wutz, A., Rasmussen, T.P. and Jaenisch, R. (2002) Chromosomal silencing and localization are mediated by different domains of Xist RNA. Nat. Genet., 30, 167-174.
21. Beletskii, A., Hong, Y-K., Pehrson, J., Egholm, M. and Strauss, W.M. (2001) PNA interference mapping demonstrates function domains in the noncoding RNA Xist. Proc. Natl Acad. Sci. USA, 98, 9215-9220.
22. Cohen, D.E. and Lee, J.T. (2002) X-chromosome inactivation and the search for chromosome-wide silencers. Curr. Opin. Genet. Dev., 12, 219-224.
23. Couturier, J., Dutrillaux, B., Garber, P., Raoul, O., Croquette, M., Fourlinnie, J.C. and Maillard, E. (1979) Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum. Genet., 49, 319-326.
24. Schanz, S. and Steinbach, P. (1989) Investigation of the 'variable spreading' of X inactivation into a translocated autosome. Hum. Genet., 82, 244-248.
25. Hall, L.L., Byron, M., Sakai, K., Carrel, L., Willard, H.F. and Lawrence, J.B. (2002) An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc. Natl Acad. Sci. USA, 99, 8677-8682.
26. 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.
27. Lyon, M.F. (1998) X-chromosome inactivation: a repeat hypothesis. Cytogenet. Cell Genet., 80, 133-137.
28. Caiulo, A., Bardoni, B., Camerino, G., Guioli, S., Minelli, A., Piantanida, M., Crosato, F., Dalla Fior, T. and Maraschio, P. (1989) Cytogenetic and molecular analysis of an unbalanced translocatio (X;7)(q28;p15) in a dysmorphic girl. Hum. Genet., 84, 51-54.
29. Zuffardi, O., Tiepolo, L., Scappaticci, S., Francesconi, D., Bianchi, C.and di Natale, D. (1977) Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation. Ann. Genet., 20, 191-194.
30. 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.
31. Keitges, E.A. and Palmer, C.G. (1986) Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum. Genet., 72, 231-236.
32. Camargo, M. and Cervenka, J. (1984) DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics. Hum. Genet., 67, 37-47.
33. Bettio, D., Rizzi, N. and Giardino, D. (1994) Familial translocation (X;3) (p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study. Clin. Genet., 46, 360-363.
34. Palmer, C.G., Hubbard, T.W., Henry, G.W. and Weaver, D.D. (1980) Failure of X inactivation in the autosomal segment of and X/A translocation. Am. J. Hum. Genet., 32, 179-187.
35. Preis, W., Barbi, G., Liptay, S., Kennerknecht, I., Schwemmle, S. and Pohlandt, F. (1996) X/autosome translocation in three generations ascertained through an infrant with trisomy 16p due to failure of spreading of X-inactivation. Am. J. Med. Genet., 61, 117-121.
36. Disteche, C.M., Swisshelm, K., Forbes, S. and Pagon, R.A. (1984) X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum. Genet., 66, 71-76.
37. Garcia-Heras, J., Martin, J.A., Witchel, S.F. and Scacheri, P. (1997) De novo der (X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR). J. Med. Genet., 34, 242-245.
38. Clemson, C.M. (1998) Structural association of XIST RNA with inactive chromosomes in somatic cells: A key step in the process that establishes and faithfully maintains X-inactivation. PhD Thesis, University of Massachusetts Medical School.
39. Riggs, A.D., Singer-Sam J. and Keith, D.H. (1985) Methylation of the PGK promoter region and an enhancer way-station model for X-chromosome inactivation. In Sandberg, A.A. (ed.), Biochemistry and Biology of DNA Methylation. Alan R. Liss, New York, pp. 211-222.
40. 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.
41. Greenberg, M.E., Hermanowski, A.L. and Ziff, E.B. (1986) Effect of protein synthesis inhibitors on growth factor activation of c-fos, c-myc, and actin gene transcription. Mol. Cell. Biol., 6, 1050-1057.
42. Huang, S. and Spector, D.L. (1991) Nascent pre-mRNA transcripts are associated with nuclear regions enriched in splicing factors. Genes Devel., 5, 2288-2302.
43. Smith, T.J. (1987) n-Butyrate inhibition of hyaluronate synthesis in cultured human fibroblasts. J. Clin Invest., 79, 1493-1497.
44. Green, R. and Shields, D. (1984) Sodium butyrate stimulates somatostatin production by cultured cells. Endocrinology, 114, 1990-1994.
45. Goldberg, Y.P., Leaner, VD. and Parker, M.I. (1992) Elevation of large-T antigen production by sodium buyrate treatment pf SV40-transformed WI-38 fibroblasts. J. Cell. Biochem., 49, 74-81.
46. Ogryzko, V.V., Hirai, T.H., Russanova, V.R., Barbie, D.A. and Howard, B.H. (1996) Human fibroblast commitment to a senescence-like state in response to histone deacetylase inhibitors is cell cycle dependent. Mol. Cell. Biol., 16, 5210-5218.
47. Johnson, C.V. and Lawrence, J.B. (1991) A simple, rapid technique for precise mapping of multiple sequences in two colors using a single optical filter set. Genetic Analysis Techniques and Applications, 8, 75-79.
48. Tam, R., Johnson, C., Shopland, L., McNeil, J. and Lawrence, J.B. (2002) Applications of RNA FISH for Visualizing Gene Expression and Nuclear Architecture. Oxford University Press.
49. Eils, R., Dietzel, S., Bertin, E., Schrock, E., Speicher, M., Ried, T., Robert-Nicoud, M., Cremer, C. and Cremer, T. (1996) Three-dimensional reconstruction of painted human interphase chromosomes: Active and inactive X chromsome territories have similar volumes but differ in shape and surface structure. J. Cell Biol., 135, 1427-1440.
50. Lawrence, J.B., Villnave, C.A. and Singer, R.H. (1988) Sensitive high-resolution chromatin and chromosome mapping in situ: presence and orientation of two closely integrated copies of EBV in a lymphoma line. Cell, 52, 51-61.
51. Xing, Y., Johnson, C.V., Dobner, P.R. and Lawrence, J.B. (1993) Higher level organization of individual gene transcription and RNA splicing. Science, 259, 1326-1330.
52. Clemson, C.M., Chow, J.C., Brown, C.J. and Lawrence, J.B. (1998) Stabilization and localization of Xist RNA are controlled by separate mechanisms and are not sufficient for X inactivation. J. Cell Biol., 142, 13-23.
53. Nowak, R. (1994) Mining Treasures from Junk DNA. Science, 263, 608-610.
54. Vogel, W., Autenreith, M. and Speit, G. (1986) Detection of bromodeoxyuridine-incorporation in mammalian chromosomes by a bromodeoxyuridine-antibody. I. Demonstration of replication patterns. Hum. Genet., 72, 129.
55. Vogel, W., Autenrieth, M. and Mehnert, K. (1989) Analysis of chromosome replication by a BrDU antibody technique. Chromosoma, 98, 335-341.