Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

D. Heitz, F. Rousseau, D. Devys, S. Saccone, H. Abderrahim, D. Le Paslier, D. Cohen, A. Vincent, D. Toniolo, G. Delia Valle, S. Johnson, D. Schlessinger, I. Oberlé, J. L. Mandel

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Abstract

Yeast artificial chromosomes (YACs) were obtained from a 550-kilobase region that contains three probes previously mapped as very dose to the locus of the fragile X syndrome. These YACs spanned the fragile site in Xq27.3 as shown by fluorescent in situ hybridization. An internal 200-kilobase segment contained four chromosomal breakpoints generated by induction of fragile X expression. A single CpG island was identified in the cloned region between markers DXS463 and DXS465 that appears methylated in mentally retarded fragile X males, but not in nonexpressing male carriers of the mutation nor in normal males. This CpG island may indicate the presence of a gene involved in the clinical phenotype of the syndrome.

Original languageEnglish
Pages (from-to)1236-1239
Number of pages4
JournalScience
Volume251
Issue number4998
Publication statusPublished - 8 Mar 1991
Externally publishedYes

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ASJC Scopus subject areas

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Cite this

Heitz, D., Rousseau, F., Devys, D., Saccone, S., Abderrahim, H., Le Paslier, D., Cohen, D., Vincent, A., Toniolo, D., Delia Valle, G., Johnson, S., Schlessinger, D., Oberlé, I., & Mandel, J. L. (1991). Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science, 251(4998), 1236-1239.