Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

M. V. Bell, M. C. Hirst, Y. Nakahori, R. N. MacKinnon, A. Roche, T. J. Flint, P. A. Jacobs, N. Tommerup, L. Tranebjaerg, U. Froster-Iskenius, B. Kerr, G. Turner, R. H. Lindenbaum, R. Winter, M. Prembrey, S. Thibodeau, K. E. Davies

Research output: Contribution to journalArticle

258 Scopus citations

Abstract

The most common genetic cause of mental retardation after Down's syndrome, the fragile X syndrome, is associated with the occurrence of a fragile site at Xq27.3. This X-linked disease is intriguing because transmission can occur through phenotypically normal males. Theories to explain this unusual phenomenon include genomic rearrangements and methylation changes associated with a local block of reactivation of the X chromosome. Using microdisected markers close to the fragile site, we have been able to test these hypotheses. We present evidence for the association of methylation with the expression of the disease. However, there is no simple relationship between the degree of methylation and either the level of expression of the fragile site or the severity of the clinical phenotype.

Original languageEnglish (US)
Pages (from-to)861-866
Number of pages6
JournalCell
Volume64
Issue number4
DOIs
StatePublished - Feb 22 1991

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Bell, M. V., Hirst, M. C., Nakahori, Y., MacKinnon, R. N., Roche, A., Flint, T. J., Jacobs, P. A., Tommerup, N., Tranebjaerg, L., Froster-Iskenius, U., Kerr, B., Turner, G., Lindenbaum, R. H., Winter, R., Prembrey, M., Thibodeau, S., & Davies, K. E. (1991). Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell, 64(4), 861-866. https://doi.org/10.1016/0092-8674(91)90514-Y