A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

Nature Genetics

Volumn 17, Issue 3, 1997, Pages 353-356

  Plenge, Robert M ^a   Hendrich, Brian D ^a   Schwartz, Charles ^b   Arena, J Fernando ^c   Naumova, Anna ^d   Sapienza, Carmen ^d   Winter, Robin M ^e   Willard, Huntington F ^a  

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

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; PROMOTER REGION; X CHROMOSOME INACTIVATION;

DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DOSAGE COMPENSATION, GENETIC; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PROMOTER REGIONS (GENETICS); RECEPTORS, ANDROGEN; RNA, UNTRANSLATED; TRANSCRIPTION FACTORS;

EID: 0030723262     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1197-353     Document Type: Article

References (33)

1. Lyon, M.F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190, 372-373 (1961).
2. Cattanach, B.M., Pollard, C.E. & Perez, J.N. Controlling elements in the mouse X-chromosome: I. Interaction with the X-linked genes. Genet Res. 14, 223-235 (1969).
3. Nance, W.E. Genetic tests with a sex-linked marker: glucose-6-phosphate dehydrogenase. Cold Spring Harbor Symp. Quant. Biol. 29, 415-424 (1964).
4. Gale, R.E., Wheadon, H., Boulos, P. & Linch, D. Tissue specificity of X-chromosome inactivation patterns. Blood 83, 2899-2905 (1994).
5. Willard, H. Sex chromosomes and X chromosome inactivation. in The Metabolic and Molecular Basis of Inherited Disease, 7th ed. (eds Scriver, C.R. et al.) 719-737 (McGraw-Hill, New York, 1995).
6. Naumova, A.K. et al. Heritability of X chromosome-inactivation phenotype in a large family. Am. J. Hum. Genet. 58, 1111-1119 (1996).
7. Taylor, S.A.M., Deugau, K.V. & Lillicrap, D.P. Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Proc. Natl. Acad. Sci. USA 88, 39-42 (1991).
8. Brown, C.J. et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349, 38-44 (1991).
9. Borsani, G. et al. Characterisation of a murine gene expressed from the inactive X chromosome. Nature 351, 325-329 (1991).
10. Brockdorff, N. et al. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 351, 329-331 (1991).
11. Kay, G.F. et al. Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 72, 171-182 (1993).
12. Penny, G.D., Kay, G.F., Sheardown, S.A., Rastan, S. & Brockdorff, N. The Xist gene is required in cis for X chromosome inactivation. Nature 379, 131-137 (1996).
13. Lyon, M. Pinpointing the centre. Nature 379, 116-117 (1996).
14. 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).
15. Herzing, L.B., Romer, J.T., Horn, J.M. & Ashworth, A. Xist has properties of the X-chromosome inactivation centre. Nature 386, 272-275 (1997).
16. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. & Belmont, J.W. Methylation of Hpall and Hhal 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).
17. Belmont, J.W. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am. J. Hum. Genet 58, 1101-1108 (1996).
18. Buzin, C.H., Mann, J.R. & Singer-Sam, J. Quantitative RT-PCR assays show Xist RNA levels are low in mouse female adult tissue, embryos and embryoid bodies. Development 120, 3529-3536 (1994).
19. Heard, E. & Avner, P. Role play in X-inactivation. Hum. Mol. Genet. 3, 1481-1485 (1994).
20. Rupert, J.L., Brown, C.J. & Willard, H.F. Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene. Eur. J. Hum. Genet. 3, 333-343 (1995).
21. Yen, P.H. et al. Frequent deletions of the human X-chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61, 603-610 (1990).
22. Ballabio, A. & Andria, G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum. Mol. Genet. 1, 221-226 (1992).
23. Carrel, L. & Willard, H. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. Am. J. Med. Genet. 64, 27-30 (1996).
24. Hendrich, B., Brown, C. & Willard, H. Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum. Mol. Genet. 2, 663-672 (1993).
25. Hendrich, B.D., Plenge, R.M. & Willard, H.F. Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation. Nucleic Acids Res. 25, 2661-2671 (1997).
26. Arena, J.F. et al. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. Am. J. Med. Genet. 64, 50-58 (1996).
27. Orstavik, K.H., Orstavik, R.E., Eiklid, K. & Tranebjaerg, L. 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).
28. Rousseau, F., Heitz, D., Oberle, I. & Mandel, J.L. Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J. Med. Genet. 28, 830-836 (1991).
29. Gibbons, R.J., Suthers, G.K., Wilkie, A.O.M., Buckle, V.J. & Higgs, D.R. X-linked α-thalessemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am. J. Hum. Genet. 51, 1136-1149 (1992).
30. Willard, H.F. X chromosome inactivation, XIST, and pursuit of the X inactivation center. Cell 86, 5-7 (1996).
31. Lee, J.T. & Jaenisch, R. Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nature 386, 275-279 (1997).
32. Lee, J.T., Strauss, W.M., Dausman, J.A. & Jaenisch, R. A 450 kb transgene displays properties of the mammalian X-inactivation center. Cell 86, 83-94 (1996).
33. Brusque, L. et al. An expression based clonality assay at the human androgen receptor locus (HUMARA) on chromosome X. Nucleic Acids Res. 22, 697-698 (1994).