title: Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.
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.
authors.affiliation: Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Institut de Chimie Biologique, Faculté de Médecine, Strasbourg, France.
authors.forename: D
authors.initials: D
authors.lastname: Heitz
authors.forename: F
authors.initials: F
authors.lastname: Rousseau
authors.forename: D
authors.initials: D
authors.lastname: Devys
authors.forename: S
authors.initials: S
authors.lastname: Saccone
authors.forename: H
authors.initials: H
authors.lastname: Abderrahim
authors.forename: D
authors.initials: D
authors.lastname: Le Paslier
authors.forename: D
authors.initials: D
authors.lastname: Cohen
authors.forename: A
authors.initials: A
authors.lastname: Vincent
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
authors.forename: G
authors.initials: G
authors.lastname: Della Valle
mesh_terms: D001483:Base Sequence; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D015342:DNA Probes; D015226:Dinucleoside Phosphates; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D012016:Reference Values; D015183:Restriction Mapping; D012441:Saccharomyces cerevisiae / Q000235:genetics; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D015226:Dinucleoside Phosphates; D015345:Oligonucleotide Probes; C015772:CpG dinucleotide