| First Author | Whitney JB 3rd | Year | 1981 |
| Journal | Proc Natl Acad Sci U S A | Volume | 78 |
| Issue | 12 | Pages | 7644-7 |
| PubMed ID | 6950407 | Mgi Jnum | J:32654 |
| Mgi Id | MGI:80144 | Doi | 10.1073/pnas.78.12.7644 |
| Citation | Whitney JB 3rd, et al. (1981) Deletions in the alpha-globin gene complex in alpha-thalassemic mice. Proc Natl Acad Sci U S A 78(12):7644-7 |
| abstractText | Three induced, heritable mutations in the mouse cause alpha-thalassemias. The adult alpha-globin genes on each mutant chromosome are no longer expressed. Embryos heterozygous for one normal and any of the three mutant chromosomes also seem to be deficient in embryonic alpha-globin-like x-globin, suggesting that the x-globin gene is nearby and also inactivated. A normal genetic polymorphism for a specific EcoRI site in or around the mouse alpha-globin gene complex has been used here to show that each of the three mutated chromosomes has a deletion that includes the segment of a 12-kilobase EcoRI band which normally carries one of the two adult alpha-globin genes. The deletion of the comparable part of the second alpha-globin gene site is also inferred. Nonetheless, a 4.7-kilobase EcoRI segment which carries a characterized alpha-globin-like pseudogene is still present in each mutant. These mutations were recovered after triethylenemelamine or x-ray treatments. |
