Tissue-specific methylation differences in a fragile X premutation carrier

Citation
F. Tassone et al., Tissue-specific methylation differences in a fragile X premutation carrier, CLIN GENET, 55(5), 1999, pp. 346-351
Citations number
44
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
55
Issue
5
Year of publication
1999
Pages
346 - 351
Database
ISI
SICI code
0009-9163(199905)55:5<346:TMDIAF>2.0.ZU;2-H
Abstract
Methylation of a premutation was found in a small percentage of blood cells in a male premutation carrier for the FMR1 mutation. To investigate the in ter-tissue heterogeneity and possible clinical implications of this finding , fibroblast cells from the subject were also studied. Although the premuta tion size was found to be the same in leukocytes and fibroblasts, the methy lation pattern was different. In cultured fibroblasts, the premutation was completely unmethylated, as is typical of premutations, whereas methylation of the premutation was detected in a small percentage of lymphocytes. Howe ver, the change in methylation did not affect the FMR1 protein (FMRP) expre ssion, as immunocytochemical analysis of FMRP performed on cultured skin fi broblasts and a blood smear revealed normal levels of expression in both ti ssues.