| First Author | Connor ME | Year | 2016 |
| Journal | Cogent Biology | Volume | 2 |
| Issue | 1 | Mgi Jnum | J:237186 |
| Mgi Id | MGI:5811572 | Doi | 10.1080/23312025.2016.1264691 |
| Citation | Connor ME, et al. (2016) The spontaneous juvenile alopecia (jal) mutation in mice is associated with the insertion of an IAP element in the Gata3 gene. Cogent Biology 2(1) |
| abstractText | Abstract: Background: A combination of genetic fine-mapping and complementation testing was used previously to assign the juvenile alopecia mutation (abbreviated jal) to the GATA binding protein 3 (Gata3) gene on Chromosome 2 in mice. However, sequence analysis of Gata3 exons (including coding and noncoding regions) revealed no differences between wild type C3H/HeJ and co-isogenic C3H/HeJjal/ J mutant mice. Results: Using a PCR-based scanning method, here we have tested the hypothesis that jal might result from insertion of a transposable element in or near the Gata3 gene. We show that the jal mutation is specifically associated with an intracisternal A particle (IAP) element of the I1 subtype that has transposed to Intron 3-4 in the Gata3 gene, and use the same panel of recombinants used previously to fine-map jal to show that this IAP element and jal are located within the same small genetic interval. Conclusion: Transposition of an IAP element of the I1 subtype into Intron 3-4 of the mutant Gata3jal allele is the likely cause of the juvenile alopecia phenotype in mutant mice. Subjects: Genetics, Developmental Biology, Molecular Biology Keywords: retrotransposition, germ-line mutation, insertional mutagenesis, focal alopecia, mouse model |
