title: tef: a mutation that causes telomere fusion and severe genome rearrangements in Drosophila melanogaster.
abstract: Telomeres are the stable ends of linear chromosomes in eukaryotes. These complex protein-nucleic acid structures are essential to maintain genomic stability and the integrity of linear chromosomes. We identified a new mutation in Drosophila that causes a high frequency of end-to-end fusions of chromosomes during mitosis and meiosis. Linear chromosomal ends appear to be essential for fusions to take place. These fusions do not resolve, leading to cycles of chromosomal breakage and rejoining and severe genome rearrangements. The gene is essential for normal cell proliferation and mutant tissue shows significant apoptosis. Our analysis suggests that the function encoded by the mutant gene is required to protect the linear ends of chromosomes.
authors.affiliation: Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, Portugal. cesunkel@ibmc.up.pt
authors.forename: J
authors.initials: J
authors.lastname: Queiroz-Machado
authors.forename: J
authors.initials: J
authors.lastname: Perdigão
authors.forename: P
authors.initials: P
authors.lastname: Simões-Carvalho
authors.forename: S
authors.initials: S
authors.lastname: Herrmann
authors.forename: C E
authors.initials: CE
authors.lastname: Sunkel
mesh_terms: D000818:Animals; D017209:Apoptosis / Q000235:genetics; D002455:Cell Division / Q000235:genetics; D000090266:Chromobox Protein Homolog 5; D002868:Chromosomal Proteins, Non-Histone / Q000378:metabolism; D004249:DNA Damage; D004260:DNA Repair / Q000235:genetics; D004261:DNA Replication / Q000235:genetics; D004331:Drosophila melanogaster / Q000166:cytology / Q000235:genetics* / Q000378:metabolism; D015321:Gene Rearrangement; D017344:Genes, Insect; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008938:Mitosis / Q000235:genetics; D009154:Mutation; D009474:Neurons / Q000166:cytology; D010641:Phenotype; D013091:Spermatogenesis / Q000235:genetics; D016615:Telomere / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D000090266:Chromobox Protein Homolog 5