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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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

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.[1]

References

  1. Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Heitz, D., Rousseau, F., Devys, D., Saccone, S., Abderrahim, H., Le Paslier, D., Cohen, D., Vincent, A., Toniolo, D., Della Valle, G. Science (1991) [Pubmed]
 
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