The spreading of X inactivation into autosomal material of an X;autosome translocation: Evidence for a difference between autosomal and X-chromosomal DNA

American Journal of Human Genetics

Volumn 63, Issue 1, 1998, Pages 20-28

  White, Wendy M ^a   Willard, Huntington F ^a   Van Dyke, Daniel L ^b   Wolff, Daynna J ^a,c  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HENRY FORD HOSPITAL   (United States)

^c Center for Medical Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOME; CASE REPORT; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DNA DETERMINATION; EXPRESSED SEQUENCE TAG; FEMALE; GENE DOSAGE; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0032231864     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301922     Document Type: Article

References (58)

1. GenBank, http://www.ncbi.nlm.nih.gov/Web/Genbank (for NFKB1 [M58603], CPH [G115892], FAT [X87241], and FGFB [M27968])
2. Genome Database, http://gdbwww.gdb.org/gdb/gdbtop.html
3. Human Transcript Map, http://www.ncbi.nlm.nih.gov/ SCIENCE96/
4. Whitehead Institute, http://www-genome.wi.mit.edu/
5. Barr ML, Bertram EG (1949) A morphological distinction between neurones of the male and female and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163:676-677
6. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF (1991a) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 394:38-44
7. Brown CJ, Carrel L, Willard HF (1997) Expression of genes from the human active and inactive X chromosomes. Am J Hum Genet 60:1333-1343
8. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, et al (1991b) Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349:82-84
9. Brown CJ, Willard HF (1989) Non-inactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet 45:592-598
10. _ (1993) Molecular and genetics studies of human X chromosome inactivation. In: Wasserman PM (ed) Advances in developmental biology, vol 2, JAI Press, Inc., Greenwich, CT, pp 37-72
11. Buzin CH, Mann JR, Singer-Sam J (1994) Quantitative RT-PCR assays show Xist RNA levels are low in mouse female adult tissue, embryos, and embryoid bodies. Development 120:3529-3536
12. Carrel L, Clemson CM, Dunn JM, Miller AP, Hunt PA, Lawrence JB, Willard HF (1996) X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet 5:391-402
13. Cattanach BM (1974) Position effect variegation in the mouse. Genet Res 23:291-306
14. Couturier J, Dutrillaux B, Garber R, Raoul O, Croquette MF, Fourlinnie JC, 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
15. Disteche CM (1995) Escape from X inactivation in human and mouse. Trends Genet 11:17-22
16. _ (1997) The great escape. Am J Hum Genet 60:1312-1315
17. Disteche CM, Eicher EM, Latt SA (1979) Late replication in an X-autosome translocation in the mouse: correlation with genetic inactivation and evidence for selective effects during embryogenesis. Proc Natl Acad Sci USA 76:5234-5238
18. Disteche CM, Swisshelm K, Forbes S, Pagon RA (1984) X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet 66:71-76
19. Dutrillaux B, Couturier J, Richter C-L, Veigas-Pequignot E (1976) Sequence of DNA replication in 277 R-and Q-bands of human chromosomes using BrdU treatment. Chromosoma 58:51-61
20. Eicher EM (1970) X-autosome translocations in the mouse: total inactivation versus partial inactivation of the X chromosome. Adv Genet 15:175-259
21. Ellis N, Yen P, Neiswanger K, Shapiro LJ, Goodfellow PN (1990) Evolution of the pseudoautosomal boundary in old world monkeys and great apes. Cell 63:977-986
22. Fraser N, Ballabio A, Zollo M, Persico G, Craig I (1987) Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? Development Suppl 101:127-132
23. Gardiner-Garden M, Frommer M (1987) CpG islands in vertebrate genomes. J Mol Biol 196:261-282
24. Gartler SM, Goldman MA (1994) Reactivation of inactive X-linked genes. Dev Genet 15:504-514
25. Gartler SM, Riggs AD (1983) Mammalian X-chromosome inactivation. Annu Rev Genet 17:155-190
26. Graves JAM, Watson (1991) Mammalian sex chromosomes: evolution of organization and function. Chromosoma 101:63-68
27. Herzing LBK, Romer JT, Horn JM, Ashworth A (1997) Xist has properties of the X-inactivation centre. Nature 386:272-275
28. Jeppesen P, Turner BM (1993) The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell 74:281-289
29. Keitges EA, Palmer CG (1986) Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum Genet 72:231-236
30. Latt SA (1973) Microfluoreometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc Natl Acad Sci USA 70:3395-3399
31. Ledbetter DH, Engel E (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764
32. Lee JT, Jaenisch R (1997) Long range effects of ectopic X inactivation centres on a mouse autosome. Nature 386:275-279
33. 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
34. Lindenbaum RH, Woods CG, Norbury CG, Povey S, Ryslecki G (1991) Am J Hum Genet Suppl 49:A285
35. Lyon MF (1961) Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 190:372-373
36. Mattei MG, Mattei JF, Ayme S, Giraud F (1982) X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 61:295-309
37. Mattei MG, Mattei JF, Vidal I, Giraud F (1981) Structural anomalies of the X chromosome and inactivation center. Hum Genet 56:401-408
38. McCarrey JR, Dilworth DD (1992) Expression of Xist in mouse germ cells correlates with X-chromosome inactivation. Nat Genet 2:200-203
39. Miller AP, Gustashaw K, Wolff DJ, Rider SH, Monaco AP, Eble B, Schlessinger D, et al (1995) Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22. Hum Mol Genet 4:731-739
40. Mohandas T, Crandall BF, Sparkes RS, Passage MB, Sparkes MC (1981a) Late replication studies in a human X/13 translocation: correlation with autosomal gene expression. Cytogenet Cell Genet 29:215-220
41. Mohandas T, Sparkes RS, Shapiro LJ (1981b) Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science 211:393-396
42. _ (1982) Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. Am J Hum Genet 34:811-817
43. Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326
44. Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorff N (1996) Requirement for Xist in X chromosome inactivation. Nature 379:131-137
45. Richler C, Soreq H, Wahrman J (1992) X inactivation in mammalian testis is correlated with inactive X-specific transcription. Nat Genet 2:192-195
46. Schanz S, Steinbach P (1989) Investigation of the "variable spreading" of X inactivation into translocated autosome. Hum Genet 82:244-248
47. Schinzel A (ed) (1984) Catalogue of unbalanced chromosome aberrations in man. Walter de Gruyter, Berlin, New York
48. Schwemmle S, Mehnert K, Vogel W (1989) How does inactivation change timing of replication in the human X chromosome? Hum Genet 83:26-32
49. Therman E, Sarto GE (1983) Inactivation center on the human X chromosome. In: Sandberg A (ed) Cytogenetics of the mammalian X chromosome. Part A: Basic mechanisms of X chromosome behavior. Alan R Liss, New York, pp 315-325
50. Tilghman SM, Willard HF (1995) Epigenetic regulation in mammals. In: Elgin S (ed) Chromatin structure and genetic expression. Oxford University Press, Oxford, New York, Toyko, pp 201-239
51. van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, et al (1996) Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5:581-590
52. Van Dyke DL, Worsham MJ, Weiss L (1987) The human inactivated X chromosome folds in early metaphase, prometaphase and prophase. Hum Genet 77:57-59
53. Watson JM, Spencer JA, Riggs AD, Graves JAM (1990) The X chromosome of monotremes shares a highly conserved region with the eutherian and marsupial X despite the absence of X inactivation. Proc Natl Acad Sci USA 87:7125-7129
54. Willard HF (1983) Replication of human X chromosome in fibroblasts and somatic cell hybrids: cytogenetic analyses and a molecular perspective. In: Sandberg A (ed) Cytogenetics of the mammalian X chromosome. Part A: Basic mechanisms of X chromosome behavior. Alan R Liss, New York, pp 427-447
55. _ (1996) X chromosome inactivation, XIST, and pursuit of the X-inactivation center. Cell 86:5-7
56. Willard HF, Brown CJ, Carrel L, Hendrich B, Miller AP (1993) Epigenetic and chromosomal control of gene expression: molecular and genetic analysis of X chromosome inactivation. Cold Spring Harb Symp Quant Biol 58:315-322
57. Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, Neiswanger K, et al (1988) The human X-linked steroid sulfastase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55:1123-1135
58. Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268-1270