DOI: 10.1126/science.2006411. Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island

Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island

10.1126/science.2006411

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

Yeast artificial chromosomes (YACs) were obtained from a 550-kilobase region that contains three probes previously mapped as very close 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.

Bibliography

Heitz, D., Rousseau, F., Devys, D., Saccone, S., Abderrahim, H., Le Paslier, D., Cohen, D., Vincent, A., Toniolo, D., Della Valle, G., Johnson, S., Schlessinger, D., OberlÃ©, 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), 1236â1239.

Authors 14

D. Heitz (first)
F. Rousseau (additional)
D. Devys (additional)
S. Saccone (additional)
H. Abderrahim (additional)
D. Le Paslier (additional)
D. Cohen (additional)
A. Vincent (additional)
D. Toniolo (additional)
G. Della Valle (additional)
S. Johnson (additional)
D. Schlessinger (additional)
I. Oberlé (additional)
J. L. Mandel (additional)

References 33 Referenced 135

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Dates

Type	When
Created	18 years, 10 months ago (Oct. 5, 2006, 6:10 p.m.)
Deposited	1 year, 7 months ago (Jan. 11, 2024, 10 p.m.)
Indexed	2 months ago (July 1, 2025, 5:12 p.m.)
Issued	34 years, 5 months ago (March 8, 1991)
Published	34 years, 5 months ago (March 8, 1991)
Published Print	34 years, 5 months ago (March 8, 1991)

Funders 0

None

BibTeX

@article{Heitz_1991, title={Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island}, volume={251}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.2006411}, DOI={10.1126/science.2006411}, number={4998}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Heitz, D. and Rousseau, F. and Devys, D. and Saccone, S. and Abderrahim, H. and Le Paslier, D. and Cohen, D. and Vincent, A. and Toniolo, D. and Della Valle, G. and Johnson, S. and Schlessinger, D. and Oberlé, I. and Mandel, J. L.}, year={1991}, month=mar, pages={1236–1239} }

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