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.
Heitz
D
D
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Institut de Chimie Biologique, Faculté de Médecine, Strasbourg, France.
Rousseau
F
F
Devys
D
D
Saccone
S
S
Abderrahim
H
H
Le Paslier
D
D
Cohen
D
D
Vincent
A
A
Toniolo
D
D
Della Valle
G
G
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
D015342:DNA Probes; D015226:Dinucleoside Phosphates; D015345:Oligonucleotide Probes; C015772:CpG dinucleotide