Demonstration of all-or-none loss of imprinting in mRNA expression in single cells

Nucleic Acids Research

Volumn 37, Issue 21, 2009, Pages 7039-7046

  Diplas, Andreas I ^a   Hu, Jianzhong ^a   Lee, Men Jean ^a   Ma, Yula Y ^a   Lee, Yin L ^a   Lambertini, Luca ^a   Chen, Jia ^a   Wetmur, James G ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; HISTONE; MESSENGER RNA; PROTEIN PLAGL1; PROTEIN ZNF331; TRICHOSTATIN A; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; AZACITIDINE; CELL CYCLE PROTEIN; DRUG DERIVATIVE; HYDROXAMIC ACID; PLAGL1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN;

ALLELE; ARTICLE; CELL POPULATION; CONTROLLED STUDY; DNA METHYLATION; GENE EXPRESSION; GENE FREQUENCY; GENE LOSS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME IMPRINTING; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN MODIFICATION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSCRIPTION REGULATION; TROPHOBLAST; CELL CULTURE; GENETICS; METABOLISM;

ALLELES; AZACITIDINE; CELL CYCLE PROTEINS; CELLS, CULTURED; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; HYDROXAMIC ACIDS; RNA, MESSENGER; TRANSCRIPTION FACTORS; TROPHOBLASTS; TUMOR SUPPRESSOR PROTEINS;

EID: 75349112531     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkp749     Document Type: Article

References (32)

1. Tilghman, S.M. (1999) The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell, 96, 185-193.
2. Reik, W., Davies, K., Dean, W., Kelsey, G. and Constancia, M. (2001) Imprinted genes and the coordination of fetal and postnatal growth in mammals. Novartis Found Symp, 237, 19-31; discussion 31-42.
3. Badcock, C. and Crespi, B. (2006) Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism. J. Evol. Biol., 19, 1007-1032.
4. Byrne, J., Cama, A., Reilly, M., Vigliarolo, M., Levato, L., Boni, L., Lavia, N. and Andreussi, L. (1996) Multigeneration maternal transmission in Italian families with neural tube defects. Am. J. Med. Genet., 66, 303-310.
5. Jelinic, P. and Shaw, P. (2007) Loss of imprinting and cancer. J. Pathol., 211, 261-268.
6. Jirtle, R.L. and Skinner, M.K. (2007) Environmental epigenomics and disease susceptibility. Nat. Rev. Genet., 8, 253-262.
7. McMinn, J., Wei, M., Schupf, N., Cusmai, J., Johnson, E.B., Smith, A.C., Weksberg, R., Thaker, H.M. and Tycko, B. (2006) Unbalanced placental expression of imprinted genes in human intrauterine growth restriction. Placenta, 27, 540-549.
8. Lambertini, L., Diplas, A.I., Lee, M.J., Sperling, R., Chen, J. and Wetmur, J. (2008) A sensitive functional assay reveals frequent loss of genomic imprinting in human placenta. Epigenetics, 3, 261-269.
9. Bilanges, B., Varrault, A., Mazumdar, A., Pantaloni, C., Hoffmann, A., Bockaert, J., Spengler, D. and Journot, L. (2001) Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. Oncogene, 20, 1246-1253.
10. Bliek, J., Verde, G., Callaway, J., Maas, S.M., De Crescenzo, A., Sparago, A., Cerrato, F., Russo, S., Ferraiuolo, S., Rinaldi, M.M. et al. (2008) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur. J. Hum. Genet, 17, 611-619.
11. Kamiya, M., Judson, H., Okazaki, Y., Kusakabe, M., Muramatsu, M., Takada, S., Takagi, N., Arima, T., Wake, N., Kamimura, K. et al. (2000) The cell cycle control gene ZAC/PLAGL1 is imprinted-a strong candidate gene for transient neonatal diabetes. Hum. Mol. Genet., 9, 453-460.
12. Mackay, D.J., Coupe, A.M., Shield, J.P., Storr, J.N., Temple, I.K. and Robinson, D.O. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum. Genet., 110, 139-144.
13. Temple, I.K. and Shield, J.P. (2002) Transient neonatal diabetes, a disorder of imprinting. J. Med. Genet., 39, 872-875.
14. Abdollahi, A., Pisarcik, D., Roberts, D., Weinstein, J., Cairns, P. and Hamilton, T.C. (2003) LOT1 (PLAGL1/ZAC1), the candidate tumor suppressor gene at chromosome 6q24-25, is epigenetically regulated in cancer. J. Biol. Chem., 278, 6041-6049.
15. Bilanges, B., Varrault, A., Basyuk, E., Rodriguez, C., Mazumdar, A., Pantaloni, C., Bockaert, J., Theillet, C., Spengler, D. and Journot, L. (1999) Loss of expression of the candidate tumor suppressor gene ZAC in breast cancer cell lines and primary tumors. Oncogene, 18, 3979-3988.
16. Valleley, E.M., Cordery, S.F. and Bonthron, D.T. (2007) Tissuespecific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. Hum. Mol. Genet., 16, 972-981.
17. Blake, W.J., KAErn, M., Cantor, C.R. and Collins, J.J. (2003) Noise in eukaryotic gene expression. Nature, 422, 633-637.
18. Elowitz, M.B., Levine, A.J., Siggia, E.D. and Swain, P.S. (2002) Stochastic gene expression in a single cell. Science, 297, 1183-1186.
19. Raj, A., Peskin, C.S., Tranchina, D., Vargas, D.Y. and Tyagi, S. (2006) Stochastic mRNA synthesis in mammalian cells. PLoS Biol., 4, e309.
20. Hu, J., Biswas, S.I., Sealfon, S.C., Wetmur, J.G., Jayaprakash, C. and Hayot, F. (2009) Power-laws in interferon-β mRNA distribution in virus infected dendritic cells. Biophys. J., in press.
21. Hu, J., Sealfon, S.C., Hayot, F., Jayaprakash, C., Kumar, M., Pendleton, A.C., Ganee, A., Fernandez-Sesma, A., Moran, T.M. and Wetmur, J.G. (2007) Chromosome-specific and noisy IFNB1 transcription in individual virus-infected human primary dendritic cells. Nucleic Acids Res., 35, 5232-5241.
22. Blake, W.J., Balazsi, G., Kohanski, M.A., Isaacs, F.J., Murphy, K.F., Kuang, Y., Cantor, C.R., Walt, D.R. and Collins, J.J. (2006) Phenotypic consequences of promoter-mediated transcriptional noise. Mol. Cell, 24, 853-865.
23. Pascal, V., Stulberg, M.J. and Anderson, S.K. (2006) Regulation of class I major histocompatibility complex receptor expression in natural killer cells: one promoter is not enough! Immunol. Rev., 214, 9-21.
24. Rosenfeld, N., Young, J.W., Alon, U., Swain, P.S. and Elowitz, M.B. (2005) Gene regulation at the single-cell level. Science, 307, 1962-1965.
25. Volfson, D., Marciniak, J., Blake, W.J., Ostroff, N., Tsimring, L.S. and Hasty, J. (2006) Origins of extrinsic variability in eukaryotic gene expression. Nature, 439, 861-864.
26. Weinberger, L.S., Burnett, J.C., Toettcher, J.E., Arkin, A.P. and Schaffer, D.V. (2005) Stochastic gene expression in a lentiviral positive-feedback loop: HIV-1 Tat fluctuations drive phenotypic diversity. Cell, 122, 169-182.
27. Varrault, A., Bilanges, B., Mackay, D.J., Basyuk, E., Ahr, B., Fernandez, C., Robinson, D.O., Bockaert, J. and Journot, L. (2001) Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. J. Biol. Chem., 276, 18653-18656.
28. Ma, Y., Kadner, S.S. and Guller, S. (2004) Differential effects of lipopolysaccharide and thrombin on interleukin-8 expression in syncytiotrophoblasts and endothelial cells: implications for fetal survival. Ann. NY Acad. Sci., 1034, 236-244.
29. Graham, C.H., Hawley, T.S., Hawley, R.G., MacDougall, J.R., Kerbel, R.S., Khoo, N. and Lala, P.K. (1993) Establishment and characterization of first trimester human trophoblast cells with extended lifespan. Exp. Cell Res., 206, 204-211.
30. Galgano, P.J. and Schildkraut, C.L. (2006) G1/S phase synchronization using double thymidine synchronization. CSH Protoc, 2006, doi:10.1101/Pdb.prot4487.
31. Diplas, A.I., Lambertini, L., Lee, M.J., Sperling, R., Lee, Y.L., Wetmur, J. and Chen, J. (2009) Differential expression of imprinted genes in normal and IUGR human placentas. Epigenetics, 4, 235-240.
32. Chubb, J.R., Trcek, T., Shenoy, S.M. and Singer, R.H. (2006) Transcriptional pulsing of a developmental gene. Curr. Biol., 16, 1018-1025.