The fragile X gene and its function.
作者： BA Oostra , P Chiurazzi
DOI: 10.1034/J.1399-0004.2001.600601.X
关键词:
摘要: The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch CGG repeats within gene, which increases in length as it transmitted from generation to generation. Once repeat exceeds threshold length, no protein produced resulting phenotype. Ten years after discovery much has been learned about function protein. Knowledge collected mutation mechanism, although still not all players that allow destabilization are known.
sci-hub.se 参考文章(98)
M.C. Siomi, H. Siomi, W.H. Sauer, S. Srinivasan, R.L. Nussbaum, G. Dreyfuss, FXR1, an autosomal homolog of the fragile X mental retardation gene The EMBO Journal. ,vol. 14, pp. 2401- 2408 ,(1995) , 10.1002/J.1460-2075.1995.TB07237.X
Elizabeth E. Cameron, Kurtis E. Bachman, Sanna Myöhänen, James G. Herman, Stephen B. Baylin, Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer Nature Genetics. ,vol. 21, pp. 103- 107 ,(1999) , 10.1038/5047
Kevin Manley, Thomas L. Shirley, Lorraine Flaherty, Anne Messer, Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nature Genetics. ,vol. 23, pp. 471- 473 ,(1999) , 10.1038/70598
Lauren E. Carpenter, Paul J. Hagerman, Pei Wen Chiang, The 5′-Untranslated Region of the FMR1 Message Facilitates Translation by Internal Ribosome Entry Journal of Biological Chemistry. ,vol. 276, pp. 37916- 37921 ,(2001) , 10.1074/JBC.M105584200
Bradford Coffee, Fuping Zhang, Stephen T. Warren, Daniel Reines, Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells Nature Genetics. ,vol. 22, pp. 98- 101 ,(1999) , 10.1038/8807
Irina V. Kovtun, Cynthia T. McMurray, Trinucleotide expansion in haploid germ cells by gap repair Nature Genetics. ,vol. 27, pp. 407- 411 ,(2001) , 10.1038/86906
G. A. Spiridigliozzi, A. M. Lachiewicz, A. Mcconkie-Rosell, W. T. Brown, Xiaohua Ding, M. C. Phelan, Ponmani Goonewardena, J. Tarleton, S. Schoenwald, Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. American Journal of Human Genetics. ,vol. 53, pp. 800- 809 ,(1993)
Evan Eichler, Chris Zerylnick, Maryse Chalifoux, Catherine B. Kunst, Jeanette J A Holden, Stephen T. Warren, Laurie Karickhoff, Jennifer Bullard, David L. Nelson, Antonio Torroni, FMR1 in global populations American Journal of Human Genetics. ,vol. 58, pp. 513- 522 ,(1996)
The Dutch-Belgian Fragile X Consorthium, Cathy E Bakker, Coleta Verheij, Rob Willemsen, Robert van der Helm, Frank Oerlemans, Marcel Vermey, Anne Bygrave, AndréT Hoogeveen, Ben A Oostra, Edwin Reyniers, Kristel De Boule, Rudi D'Hooge, Patrick Cras, Désiré van Velzen, Guy Nagels, Jean-Jacques Martin, Peter P De Deyn, John K Darby, Patrick J Willems, Fmr1 knockout mice: A model to study fragile X mental retardation Cell. ,vol. 78, pp. 23- 33 ,(1994) , 10.1016/0092-8674(94)90569-X
R. A. Fridell, R. E. Benson, J. Hua, H. P. Bogerd, B. R. Cullen, A nuclear role for the Fragile X mental retardation protein. The EMBO Journal. ,vol. 15, pp. 5408- 5414 ,(1996) , 10.1002/J.1460-2075.1996.TB00924.X