FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, R Frank Kooy

Research output: Contribution to journalArticlepeer-review

Abstract

Fragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a patient with Beckwith-Wiedemann syndrome and a pure truncation of 18q22-qter, a new aphidicolin-sensitive fragile site on chromosome 18q22.2 (FRA18C) is described. The region in 18q22 appears highly enriched in flexibility islands previously found to be the characteristic of common fragile site regions. The breakpoint was cloned in this patient. The break disrupts the DOK6 gene and was immediately followed by a repetitive telomere motif, (TTAGGG)(n). Using fluorescent in situ hybridisation, the breakpoint in the daughter was found to coincide with the fragile site in the father. The breakpoint region was highly enriched in AT-rich sequences. It is the first report of an aphidicolin-sensitive fragile site that coincides with an in vivo chromosome truncation in the progeny.
Original languageEnglish
Pages (from-to)347-52
Number of pages6
JournalJournal of Medical Genetics
Volume44
Issue number5
DOIs
Publication statusPublished - May 2007

Keywords

  • Aphidicolin
  • Base Sequence
  • Child
  • Chromosome Breakage
  • Chromosome Deletion
  • Chromosome Fragile Sites
  • Chromosomes, Human, Pair 18
  • Cloning, Molecular
  • DNA Mutational Analysis
  • Fathers
  • Female
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Repetitive Sequences, Nucleic Acid

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