title: Low-frequency common fragile sites: link to neuropsychiatric disorders?
abstract: Common fragile sites are unstable chromosomal regions that predispose chromosomes to breakage and rearrangements. Recombinogenic DNA sequences encompassing these sites may contribute to both germinal and somatic genomic mutations, and the genomic instability at these regions might cause severe inherited disorders or predispose to cancer. In this review, we discuss the characterization of common fragile site FRA13A within the neurobeachin gene, which is involved in development and function of the central nervous system. We raise the possibility of an implication of common fragile sites in neuropsychiatric disorders and overview previous and recent reports concerning individual variability of expression of common fragile sites in human populations.
authors.affiliation: Division of Tumor Genetics, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany. l.savelyeva@dkfz.de
authors.forename: Larissa
authors.initials: L
authors.lastname: Savelyeva
authors.forename: Evgeny
authors.initials: E
authors.lastname: Sagulenko
authors.forename: Jens Guido
authors.initials: JG
authors.lastname: Schmitt
authors.forename: Manfred
authors.initials: M
authors.lastname: Schwab
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D043283:Chromosome Fragile Sites / Q000235:genetics*; D002873:Chromosome Fragility / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; C498595:NBEA protein, human; D009419:Nerve Tissue Proteins