title: Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse.
abstract: B1 elements are an abundant class of short interspersed elements (SINEs) in the mouse genome and mobilize by a process known as retrotransposition. Here, we report the characterization of a mutagenic B1 insertion into exon 4 of the Atcay gene, which was previously shown to be responsible for the jittery mouse. Mutations in the human ortholog of this gene, ATCAY, are responsible for Cayman ataxia. The B1 insertion is approximately 150-bp long, ends in a 45-50-bp polyadenylic acid (poly A) tail, is flanked by a perfect 13-bp target-site duplication, and is inserted into a sequence that resembles a LINE-1 endonuclease consensus cleavage site. Computational analysis indicates that the mutagenic insertion is most closely related to elements of the B1-C subfamily, and we have identified two possible progenitor B1 sequences on mouse chromosome 19. Together, these data demonstrate that B1 retrotransposition is ongoing in the mouse genome and is consistent with the hypothesis that the reverse transcriptase and endonuclease encoded by LINE-1 elements mediate B1 mobility.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. Nicolas.Gilbert@igh.cnrs.fr
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gilbert
authors.forename: Jamee M
authors.initials: JM
authors.lastname: Bomar
authors.forename: Margit
authors.initials: M
authors.lastname: Burmeister
authors.forename: John V
authors.initials: JV
authors.lastname: Moran
mesh_terms: D000818:Animals; D001483:Base Sequence / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics; D005796:Genes; D006801:Humans; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009690:Nucleic Acid Conformation; D012313:RNA / Q000235:genetics; D018626:Retroelements / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics
chemical_list: D018626:Retroelements; D012313:RNA