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Publication : Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice.

First Author  Harbers K Year  1984
Journal  Proc Natl Acad Sci U S A Volume  81
Issue  5 Pages  1504-8
PubMed ID  6324198 Mgi Jnum  J:7398
Mgi Id  MGI:55868 Doi  10.1073/pnas.81.5.1504
Citation  Harbers K, et al. (1984) Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice. Proc Natl Acad Sci U S A 81(5):1504-8
abstractText  Integration of the Moloney murine leukemia virus (M-MuLV) into the germ line of Mov-13 mice blocked formation of stable alpha 1(I) collagen mRNA and led to an embryonic lethal mutation. A 14-kilobase fragment representing the integration site of the virus was molecularly cloned and identified as the alpha 1(I) collagen gene. Sequence and nuclease S1 mapping analyses were performed to characterize the position of the proviral genome in relation to the transcriptional map of the mutated gene. The results indicated that the virus has inserted into the first intron 19 base pairs downstream of the intron/exon boundary. Sequence comparison showed a striking homology of exon sequences and sequences up to 215 base pairs upstream of the mRNA start between the mouse and the human alpha 1(I) collagen gene. This indicates that the sequences upstream of the mRNA start are highly conserved during evolution, suggesting that this region has an important role in the control of tissue-specific collagen expression.
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