title: The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?
abstract: The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X chromosome in maintaining genomic stability, and particularly, the first clues of Bloom syndrome development by mechanisms other than the BLM, we suggest herein that the X chromosome should be investigated in Bloom syndrome.
authors.affiliation: Division of Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey. daslan@gazi.edu.tr.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
mesh_terms: D001816:Bloom Syndrome / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D042822:Genomic Instability / Q000502:physiology*; D006801:Humans; D009154:Mutation; D053484:RecQ Helicases / Q000235:genetics
chemical_list: D053484:RecQ Helicases