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001-es BibID:BIBFORM069270
Első szerző:Péterfy Miklós
Cím:Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene : retrointegration hotspots in the mouse genome / Miklós Péterfy, Tibor Gyuris, Laarni Antonio, László Takács
Dátum:1998
ISSN:0378-1119
Megjegyzések:Isolated lissencephaly sequence and Miller?Dieker syndrome are related neurodevelopmental disorders caused by defects of the LIS1 gene encoding the ? 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.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Platelet-activating factor acetylhydrolase
Lissencephaly
Miller-Dieker syndrome
Retrotransposition
Megjelenés:Gene 216 : 2 (1998), p. 225-231. -
További szerzők:Gyuris Tibor Laarni, Antonio Takács László (1955-)
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