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| THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION |
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| Author(s): DEVYS D, LUTZ Y, ROUYER N, BELLOCQ JP, MANDEL JL |
| Source: NATURE GENETICS Volume: 4 Issue: 4 Pages: 335-340 Published: AUG 1993 |
| Times Cited: 370 References: 36 |
| Abstract: Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclonal antibodies specific for the FMR-1 protein. They detect 4-5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR-1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR-1 were higher in dividing layers. In adult testis, FMR-1 was detected only in spermatogonia. FMR-1 was not detected in dermis and cardiac muscle except under pathological conditions. |
| Document Type: Article |
| Language: English |
Addresses:
1. FAC MED STRASBOURG, CNRS, INSERM, UNITE 184, GENET MOLEC EUCARYOTES LAB, 11 RUE HUMANN, F-67085 STRASBOURG, FRANCE
2. CHRU, F-67085 STRASBOURG, FRANCE
3. CHU, HOSP HAUTEPIERRE, SERV ANAT PATHOL GEN, F-67089 STRASBOURG, FRANCE |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: LQ178 |
| ISSN: 1061-4036 |
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