A tissue dependent processing and function of the FMR-1 gene product
- Erasmus Univ., Rotterdam (Netherlands); and others
We recently characterized the FMR-1 gene product (FMRP) associated with the fragile X syndrome. Immunoprecipitation studies were performed on lymphoblastic cells. Four different protein products revealing alternative splicing were found. All these proteins were absent in cells from patients with the fragile X syndrome. Immunolocalization studies on different tissues showed that FMRP was mainly localized in the cytoplasm of the cells. To investigate the possible role and function of the different splice forms, FMRP was isolated from different tissues from human and mouse, using antibodies directed against different parts of the FMRP. RNA binding studies were performed on the isolated forms. For the studies in mouse, tissues from a mouse knockout for FMR-1 were used as a negative control. FMRP isolated from brain, testis, kidney and liver were compared and the results indicate that FMRP is expressed in different forms and ratio in these tissues. The results found in human and mouse were comparable. Further we demonstrated that the different forms of FMRP found for example in brain and kidney have a different affinity for RNA binding.
- OSTI ID:
- 133331
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0058
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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