| First Author | Meisler MH | Year | 1980 |
| Journal | Proc Natl Acad Sci U S A | Volume | 77 |
| Issue | 5 | Pages | 2848-52 |
| PubMed ID | 6930671 | Mgi Jnum | J:6346 |
| Mgi Id | MGI:54822 | Doi | 10.1073/pnas.77.5.2848 |
| Citation | Meisler MH, et al. (1980) Rare structural variants of human and murine uroporphyrinogen I synthase. Proc Natl Acad Sci U S A 77(5):2848-52 |
| abstractText | An isoelectric focusing method for detection of structural variants of the enzyme uroporphyrinogen I synthase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in mammalian tissues has been developed. Mouse and human erythrocytes contain one or two major isozymes of uroporphyrinogen I synthase, respectively. Other tissues contain a set of more acidic isozymes that are encoded by the same structural gene as the erythrocyte isozymes. Mouse populations studied with this method were monomorphic for uroporphyrinogen I synthase, with the exception of one feral mouse population. The pedigree of a human family with a rare structural variant is consistent with autosomal linkage of the structural gene. This system provides a convenient isozyme marker for genetic studies and will facilitate determination of the chromosomal location of the uroporphyrinogen I synthase locus. |
