Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
10.1038/13810
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23(2), 185–188.

Authors 6
  1. Ruthie E. Amir (first)
  2. Ignatia B. Van den Veyver (additional)
  3. Mimi Wan (additional)
  4. Charles Q. Tran (additional)
  5. Uta Francke (additional)
  6. Huda Y. Zoghbi (additional)
References 25 Referenced 4,100
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  3. Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14, 471–479 (1983). (10.1002/ana.410140412) / Ann. Neurol. by B Hagberg (1983)
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  6. Ellison, K.A. et al. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am. J. Hum. Genet. 50, 278–287 (1992). / Am. J. Hum. Genet. by KA Ellison (1992)
  7. Schanen, N.C. et al. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am. J. Hum. Genet. 61, 634–641 (1997). (10.1086/515525) / Am. J. Hum. Genet. by NC Schanen (1997)
  8. Schanen, C. & Francke, U. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am. J. Hum. Genet. 63, 267–269 (1998). (10.1086/301932) / Am. J. Hum. Genet. by C Schanen (1998)
  9. Archidiacono, N. et al. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum. Genet. 86, 604–606 (1991). (10.1007/BF00201549) / Hum. Genet. by N Archidiacono (1991)
  10. Curtis, A.R. et al. X chromosome linkage studies in familial Rett syndrome. Hum. Genet. 90, 551–555 (1993). (10.1007/BF00217457) / Hum. Genet. by AR Curtis (1993)
  11. Sirianni, N., Naidu, S., Pereira, J., Pillotto, R.F. & Hoffman, E.P. Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am. J. Hum. Genet. 63, 1552–1558 (1998). (10.1086/302105) / Am. J. Hum. Genet. by N Sirianni (1998)
  12. Nan, X. et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386–389 (1998). (10.1038/30764) / Nature by X Nan (1998)
  13. Jones, P.L. et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet. 19, 187– 191 (1998). (10.1038/561) / Nature Genet. by PL Jones (1998)
  14. Amir, R., Roth Dahle, E., Toniolo, D. & Zoghbi, H.Y. Candidate gene analysis in Rett syndrome and the identification of twenty-one SNPs in Xq. Am. J. Med. Genet. (in press).
  15. Wan, M. & Francke, U. Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1). Am. J. Med. Genet. 78, 169–172 ( 1998). (10.1002/(SICI)1096-8628(19980630)78:2<169::AID-AJMG14>3.0.CO;2-L) / Am. J. Med. Genet. by M Wan (1998)
  16. D'Esposito, M. et al. Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm. Genome 7, 533–535 (1996). (10.1007/s003359900157) / Mamm. Genome by M D'Esposito (1996)
  17. Lewis, J.D. et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69, 905–914 (1992). (10.1016/0092-8674(92)90610-O) / Cell by JD Lewis (1992)
  18. Nan, X., Meehan, R.R. & Bird, A. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res. 21, 4886–4892 (1993). (10.1093/nar/21.21.4886) / Nucleic Acids Res. by X Nan (1993)
  19. Nan, X., Campoy, F.J. & Bird, A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88, 471 –481 (1997). (10.1016/S0092-8674(00)81887-5) / Cell by X Nan (1997)
  20. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. & Belmont, J.W. 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. by RC Allen (1992)
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  22. Coy, J.F., Sedlacek, Z., Bachner, D., Delius, H. & Poustka, A. A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. Hum. Mol. Genet. 8, 1253–1262 (1999). (10.1093/hmg/8.7.1253) / Hum. Mol. Genet. by JF Coy (1999)
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Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 4:34 a.m.)
Deposited 3 years, 8 months ago (Dec. 1, 2021, 3:33 p.m.)
Indexed 7 hours, 58 minutes ago (Aug. 31, 2025, 6:17 a.m.)
Issued 25 years, 10 months ago (Oct. 1, 1999)
Published 25 years, 10 months ago (Oct. 1, 1999)
Published Print 25 years, 10 months ago (Oct. 1, 1999)
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@article{Amir_1999, title={Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2}, volume={23}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/13810}, DOI={10.1038/13810}, number={2}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Amir, Ruthie E. and Van den Veyver, Ignatia B. and Wan, Mimi and Tran, Charles Q. and Francke, Uta and Zoghbi, Huda Y.}, year={1999}, month=oct, pages={185–188} }