Abstract

FMRP is the protein product of the human FMR1 locus. Mutations at this locus which prevent expression of active protein cause Fragile X Mental Retardation. This protein binds to RNA and is found associated with polyribosomes. FMRP is alternately splices and closely related homologs are coded on autosomal chromosomes. An understanding of the role of FMRP requires structural information, as well as information about the expression, localization, and half-life of this family of proteins. This project will examine the structure and stability of FMRP and other family members.
Specific aims are: 1) to produce and characterize biochemically useful amount of recombinant FMRP family members, splice variant, and mutants; 2) to determine the structure of FMRP and an FMRP-RNA complex; 3) to produce a panel of isozyme specific antibodies in order to unambiguously determine the identity and localization of expressed FMRP isoforms; 4) to determine the mechanism and rate of intracellular FMRP degradation.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD035576-02
Application #
6108906
Study Section
Project Start
1998-08-01
Project End
1999-07-31
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
2
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Emory University
Department
Type
DUNS #
042250712
City
Atlanta
State
GA
Country
United States
Zip Code
30322

  Publications

Spath, Marian A; Feuth, Ton B; Smits, Arie P T et al. (2011) Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med 13:643-50
Spath, M A; Feuth, T B; Allen, E G et al. (2011) Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers. Hum Reprod 26:2185-91
Wang, Houping; Dictenberg, Jason B; Ku, Li et al. (2008) Dynamic association of the fragile X mental retardation protein as a messenger ribonucleoprotein between microtubules and polyribosomes. Mol Biol Cell 19:105-14
Allen, E G; Sullivan, A K; Marcus, M et al. (2007) Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 22:2142-52
Anido, Aimee; Carlson, Lisa M; Sherman, Stephanie L (2007) Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. J Genet Couns 16:97-104
Li, Wen; Xia, Jin-tang; Feng, Yue (2006) Microtubule stability and MAP1B upregulation control neuritogenesis in CAD cells. Acta Pharmacol Sin 27:1119-26
Smith, Karen T; Nicholls, Robert D; Reines, Daniel (2006) The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors. Nucleic Acids Res 34:1205-15
Garber, Kathryn; Smith, Karen T; Reines, Danny et al. (2006) Transcription, translation and fragile X syndrome. Curr Opin Genet Dev 16:270-5
Anido, Aimee; Carlson, Lisa M; Taft, Lisa et al. (2005) Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 14:295-306
Nakamoto, Mika; Jin, Peng; O'Donnell, William T et al. (2005) Physiological identification of human transcripts translationally regulated by a specific microRNA. Hum Mol Genet 14:3813-21

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