title: Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome.
abstract: Isolated lissencephaly sequence and Miller-Dieker syndrome are related neurodevelopmental disorders caused by defects of the LIS1 gene encoding the alpha subunit of intracellular platelet-activating factor acetylhydrolase. In addition to the ortholog of the human LIS1 gene (Pafaha/Lis1), the mouse genome contains two more homologs. In order to characterize the new members of this gene family, we isolated both Pafaha/Lis1-related genes (Pafaha-ps1 and Pafaha-ps2) from a mouse genomic library. Pafaha-ps1 and Pafaha-ps2 are processed pseudogenes formed by the retroinsertion of 5'-truncated Pafaha/Lis1 cDNAs. Sequence analysis revealed a striking accumulation of retroelements at both loci, identifying two retroinsertion hotspots in the mouse genome. The recognition of tRNA genes flanking Pafaha-ps1 provides an example for the potential association of RNA polymerase III transcription and retroinsertion in mammals. Linkage mapping placed Pafaha-ps1 and Pafaha-ps2 to distal chromosome (Chr) 3 and proximal Chr 7, respectively. Our results indicate that only one of the three LIS1-related mouse loci (Pafaha/Lis1) is functional, in contrast with two closely related functional genes (LIS1 and LIS2) reported in humans. 1998 Elsevier Science B.V.
authors.affiliation: Department of Biomedical Science, Amgen Inc., Thousand Oaks, CA 91320-1789, USA. mpeterfy@ucla.edu
authors.forename: M
authors.initials: M
authors.lastname: Péterfy
authors.forename: T
authors.initials: T
authors.lastname: Gyuris
authors.forename: L
authors.initials: L
authors.lastname: Antonio
authors.forename: L
authors.initials: L
authors.lastname: Takács
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003433:Crosses, Genetic; D004251:DNA Transposable Elements / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D007426:Genes, Intracisternal A-Particle / Q000235:genetics*; D016678:Genome; D051379:Mice; D008869:Microtubule-Associated Proteins; D009154:Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D011544:Pseudogenes / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D004251:DNA Transposable Elements; D018076:DNA, Complementary; D008869:Microtubule-Associated Proteins; D011506:Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C513190:Pafah1b1 protein, mouse