Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

BMC Medical Genetics

Volumn 3, Issue , 2002, Pages

  Traynor, Jeff ^a   Agarwal, Priyanka ^a   Lazzeroni, Laura ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; DNA; METHYL CPG BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2;

ARTICLE; CELL CLONE; CELL CULTURE; CELL TYPE; CLINICAL ARTICLE; CLONAL VARIATION; CORRELATION ANALYSIS; DNA MICROARRAY; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VIVO STUDY; LYMPHOBLASTOID CELL LINE; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PROTEIN METHYLATION; RETT SYNDROME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSCRIPTION REGULATION; UNINDEXED SEQUENCE; WILD TYPE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

EID: 2542433290     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-3-12     Document Type: Article

References (33)

1. Hagberg B, Hagberg G: Rett syndrome: epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997, 6(Suppl 1):5-7
2. Rett A: Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Med Wochenschr 1966, 116:723-738
3. Trevathan E, Moser HW, Opitz JM, Percy AK, Naidu S, Holm VA, Boring CC, RSJ, Yeargrin-Allsopp M, Adams MJ: Diagnostic criteria for Rett syndrome. Ann Neurol 1988, 23:425-428
4. Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U: A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 1997, 61:634-641
5. Schanen NC, 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 1998, 63:267-269
6. Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP: Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998, 63:1552-1558
7. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188
8. Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J: MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000, 9:1377-1384
9. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F: Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000, 9:1369-1375
10. Lee SS, Wan M, Francke U: Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 2001, 23(Suppl 1):S138-143
11. Nan X, Meehan RR, Bird A: Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res 1993, 21:4886-4892
12. Nan X, Campoy FJ, Bird A: MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997, 88:471-481
13. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A: Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 1998, 393:386-389
14. Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP: Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet 1998, 19:187-191
15. Coy JF, 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 1999, 8:1253-1262
16. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY: Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 2002, 11:115-124
17. Holm VA: Physical growth and development in patients with Rett syndrome. Am J Med Genet Suppl 1986, 1:119-126
18. Ellis KJ, Shypailo RJ, Hardin DS, Perez MD, Motil KJ, Wong WW, Abrams SA: Z score prediction model for assessment of bone mineral content in pediatric diseases. J Bone Miner Res 2001, 16:1658-1664
19. Hendrich B, Guy J, Ramsahoye B, Wilson VA, Bird A: Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development. Genes Dev 2001, 15:710-723
20. Prokhortchouk A, Hendrich B, Jorgensen H, Ruzov A, Wilm M, Georgiev G, Bird A, Prokhortchouk E: The p120 catenin partner Kaiso is a DNA methylation-dependent transcriptional repressor. Genes Dev 2001, 15:1613-1618
21. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: 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 1992, 51:1229-1239
22. Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg MR, Carroll JE, Taber JW, Wessel HB, et al: Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994, 54:989-1003
23. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U: Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotpots. Am J Hum Genet 1999, 65:1520-1529
24. Frischmeyer PA, Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999, 8:1893-1900
25. Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J: Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. 2001, 8:847-865
26. Maeda T, Honda Y, Hanawa M, Yamada E, Ono Y, Shikata T, Shimizu YK: Production of antibodies directed against microtubular aggregates in hepatocytes of chimpanzees with non-A, non-B hepatitis. J Gen Virol 1989, 70(Pt 6):1401-1407
27. Kitamura A, Takahashi K, Okajima A, Kitamura N: Induction of the human gene for p44, a hepatitis-C-associated microtubular aggregate protein, by interferon-alpha/beta. Eur J Biochem 1994, 224:877-883
28. Novak JP, Sladek R, Hudson TJ: Characterization of variability in large-scale gene expression data: implications for study design. Genomics 2002, 79:104-113
29. Griffin JE, Allman DR, Durrant JL, Wilson JD: Variation in steroid 5 alpha-reductase activity in cloned human skin fibroblasts. Shift in phenotypic expression from high to low activity upon subcloning. J Biol Chem 1981, 256:3662-3666
30. Tudor M, Chen RZH, Akbarian S, Jaenisch R: Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci (USA) 2002
31. Wan M, Zhao K, Lee SS, Song HR, Francke U: MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum Mol Genet 2001, 10:1085-1092
32. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H: Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002, 35:243-254
33. Kiss T: Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions. Cell 2002, 109:145-148