| First Author | Concepcion D | Year | 2011 |
| Journal | Genetics | Volume | 187 |
| Issue | 4 | Pages | 1185-91 |
| PubMed ID | 21321132 | Mgi Jnum | J:170900 |
| Mgi Id | MGI:4947876 | Doi | 10.1534/genetics.110.125906 |
| Citation | Concepcion D, et al. (2011) Modifier Genes for Mouse Phosphatidylinositol Transfer Protein {alpha} (vibrator) That Bypass Juvenile Lethality. Genetics 187(4):1185-91 |
| abstractText | Phosphatidylinositol transfer proteins (PITPs) mediate lipid signaling and membrane trafficking in eukaryotic cells. Loss-of-function mutations of the gene encoding PITPalpha in mice result in a range of dosage-sensitive phenotypes, including neurological dysfunction, neurodegeneration, and premature death. We have previously reported genetic suppression of a strong hypomorphic allele, vibrator, by a wild-derived variant of Nxf1, which increases the level of PITPalpha made from vibrator alleles and suppresses each of the neurological and survival phenotypes. Here we report discovery and genetic mapping of additional vibrator modifiers, Mvb2 and Mvb3, from a different strain background that suppresses juvenile lethality without suppressing visible phenotypes or gene expression. Genotype-specific survival analysis predicts molecular heterosis at Mvb3. These results indicate a mechanism of suppression that bypasses a quantitative requirement for PITPalpha function. |
