Rare structural variants of human and murine uroporphyrinogen I synthase
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.
- Research Organization:
- Univ. of Michigan Medical School, Ann Arbor
- DOE Contract Number:
- E(11-1) (2828)
- OSTI ID:
- 6639655
- Journal Information:
- Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 77:5
- Country of Publication:
- United States
- Language:
- English
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