Rare Structural Variants of Human and Murine Uroporphyrinogen I Synthase

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1980 May 1

PMID 6930671

Citations 5

Authors

M H Meisler

M L Carter

Affiliations

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Abstract

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.

Citing Articles

Genetic variation of iron-induced uroporphyria in mice.

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Porphobilinogen deaminase gene structure and molecular defects.

Deybach J, Puy H J Bioenerg Biomembr. 1995; 27(2):197-205.

PMID: 7592566 DOI: 10.1007/BF02110034.

Linkage of the structural gene for uroporphyrinogen I synthase to markers on mouse chromosome 9 in a cross between feral and inbred mice.

Antonucci T, Chapman V, Meisler M Biochem Genet. 1982; 20(7-8):703-10.

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Rate of spontaneous mutation at human loci encoding protein structure.

Neel J, Mohrenweiser H, Meisler M Proc Natl Acad Sci U S A. 1980; 77(10):6037-41.

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Conserved linkage within a 4-cM region of mouse chromosome 9 and human chromosome 11.

Antonucci T, von Deimling O, Rosenblum B, Skow L, Meisler M Genetics. 1984; 107(3):463-75.

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