Examination of FMR1 transcript and protein levels among 74 premutation carriers

Journal of Human Genetics

Volumn 55, Issue 1, 2010, Pages 66-68

  Peprah, Emmanuel ^a   He, Weiya ^a   Allen, Emily ^a   Oliver, Tiffany ^a   Boyne, Alex ^a   Sherman, Stephanie L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

FMR1; FMRP; Fragile X syndrome; Males; Premutation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ANALYSIS OF COVARIANCE; ARTICLE; CONTROLLED STUDY; FRAGILE X SYNDROME; GENETIC TRANSCRIPTION; HUMAN; MAJOR CLINICAL STUDY; MALE; PROTEIN METHYLATION; TRINUCLEOTIDE REPEAT;

FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MUTATION; PROTEIN BIOSYNTHESIS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 76149090495     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.121     Document Type: Article

References (20)

1. Sherman, S., Pletcher, B. & Driscoll, D. Fragile X syndrome: diagnositc and carrier testing. Genet. Med. 7, 584-587 (2005).
2. Gheldof, N., Tabuchi, T. & Dekker, J. The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modification. Proc. Natl Acad. Sci. USA 103, 12463-12468 (2006).
3. Tassone, F., Hagerman, R. J., Taylor, A. K., Mills, J. B., Harris, S. W., Gane, L. W. et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am. J. Med. Genet. 91, 144-152 (2000).
4. Kenneson, A., Zhang, F., Hagedorn, C. & Warren, S. Reduced FMRP and increased FMR1 transcript is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet. 10, 1449-1454 (2001).
5. Tassone, F., Hagerman, R., Taylor, A., Gane, L., Godfrey, T. & Hagerman, P. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile- X Syndrome. Am. J. Hum. Genet. 66, 6-15 (2000).
6. Primerano, B., Tassone, F., Hagerman, R., Hagerman, P., Amaldi, F. & Bagni, C. Reduced FMR1 mRNA translation efficiency in Fragile X patients with premutations. RNA 8, 1482-1488 (2002).
7. Feng, Y., Zhang, F., Lokey, L. K., Chastain, J. L., Lakkis, L., Eberhart, D. et al. Translational supperssion by trinucleotide repeat expansion at FMR1. Science 268, 731-734 (1995).
8. Laggerbauer, B., Ostareck, D., Keidel, E. M., Ostareck-Lederer, A. & Fischer, U. Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum. Mol.Genet. 10, 329-338 (2001).
9. Fu, Y., Kuhl, D., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox 1991. Cell 1047-1058.
10. Allen, E., He, W., Yadav-Shah, M. & Sherman, S. A study of the distribution characteristics of FMR1 transcript levels in 238 individuals. Hum. Genet. 114, 439-447 (2004).
11. Meadows, K., Pettay, D., Newman, J., Hersey, J., Ashley, A., Sherman, S. Survey of the fragile X syndrome and the fragile X E syndrome in a special needs population. Am. J. Med. Genet. 64, 428-433 (1996).
12. Crawford, D., Meadows, K., Newman, J. L., Taft, L. F., Pettay, D. L., Gold, L. B. et al. Prevalence and phenotype consquence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am. J. Hum. Genet. 64, 495-507 (1999).
13. Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C. & Li, L. et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13, 555-562 (2007).
14. Gracia-Alegria, E., Ibanez, B., Minguez, M., Poch, M., Valiente, A. & Sanz-Parra, A. et al. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA 13, 756-762 (2007).
15. Zumwalt, M., Ludwig, A., Hagerman, P. & Dieckmann, T. Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene. RNA. Biol. 4, 93-100 (2007).
16. Beilina, A., Tassone, F., Schwartz, P. H., Sahota, P. & Hagerman, P. J. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum. Mol. Genet. 13, 543-549 (2004).
17. Singh, K. & Prasad, S. Differential expression of Fmr-1 mRNA and FMRP in female mice brain during aging. Mol. Biol. Rep. 35, 677-684 (2008).
18. Entezam, A. & Usdin, K. ATR protects the genome against CGG CGG-repeat expansion in Fragile X premutation mice. Nucleic. Acids. Res. 36, 1050-1056 (2008).
19. Handa, V., Goldwater, D., Stiles, D., Cam, M., Poy, G., Kumari, D. et al. Long CCGrepeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett. 579, 2702-2708 (2005).
20. Iwahashi, C., Tassone, F., Hagerman, R. J., Yasui, D., Parrott, G., Nguyen, D. et al. A quantitative ELISA assay for the fragile X mental retardation 1 protein. J. Mol. Diagn. 11, 281-289 (2009).