title: Characterization of the breakpoints of a polymorphic inversion complex detects strict and broad breakpoint reuse at the molecular level.
abstract: Inversions are an integral part of structural variation within species, and they play a leading role in genome reorganization across species. Work at both the cytological and genome sequence levels has revealed heterogeneity in the distribution of inversion breakpoints, with some regions being recurrently used. Breakpoint reuse at the molecular level has mostly been assessed for fixed inversions through genome sequence comparison, and therefore rather broadly. Here, we have identified and sequenced the breakpoints of two polymorphic inversions-E1 and E2 that share a breakpoint-in the extant Est and E1 + 2 chromosomal arrangements of Drosophila subobscura. The breakpoints are two medium-sized repeated motifs that mediated the inversions by two different mechanisms: E1 via staggered breaks and subsequent repair and E2 via repeat-mediated ectopic recombination. The fine delimitation of the shared breakpoint revealed its strict reuse at the molecular level regardless of which was the intermediate arrangement. The occurrence of other rearrangements in the most proximal and distal extended breakpoint regions reveals the broad reuse of these regions. This differential degree of fragility might be related to their sharing the presence outside the inverted region of snoRNA-encoding genes.
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Puerma
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain.
authors.forename: Dorcas J
authors.initials: DJ
authors.lastname: Orengo
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Salguero
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Papaceit
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Segarra
authors.affiliation: Departament de Genètica, Facultat de Biologia, i Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona, Spain maguade@ub.edu.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Aguadé
mesh_terms: D000818:Animals; D056905:Chromosome Breakpoints; D007446:Chromosome Inversion; D016386:Chromosome Walking / Q000379:methods*; D059006:Chromosomes, Insect / Q000235:genetics*; D004330:Drosophila / Q000145:classification / Q000235:genetics*; D019143:Evolution, Molecular; D010802:Phylogeny; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA
keywords: Drosophila; breakpoint reuse; chromosomal inversion; inversion breakpoints