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Publication : Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice.

First Author  Adachi M Year  1993
Journal  Proc Natl Acad Sci U S A Volume  90
Issue  5 Pages  1756-60
PubMed ID  7680478 Mgi Jnum  J:4342
Mgi Id  MGI:52837 Doi  10.1073/pnas.90.5.1756
Citation  Adachi M, et al. (1993) Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice. Proc Natl Acad Sci U S A 90(5):1756-60
abstractText  The mouse lpr (lymphoproliferation) mutation carries a rearrangement in the chromosomal gene for the Fas antigen, which mediates apoptosis. Isolation and characterization of mouse Fas antigen chromosomal gene from wild-type and lpr mice indicated an insertion of an early transposable element (ETn) in intron 2 of the Fas antigen gene of lpr mice. Hybrid transcripts carrying the Fas antigen and ETn sequences were expressed in the thymus and liver of the mutant. This indicated that premature termination and aberrant splicing of the Fas antigen transcript caused by the insertion of the ETn in the intron are responsible for the lymphoproliferation and autoimmune phenotype of the mutant mouse. On the other hand, an insertion of the ETn into an intron of a mammalian expression vector dramatically but not completely reduced the expression efficiency. These findings suggest that lpr mice are able to express a very low level of the Fas antigen.
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