Rare structural variants of human and murine uroporphyrinogen I synthase

Meisler, M H; Carter, M L.C.

doi:10.1073/pnas.77.5.2848

Title: Rare structural variants of human and murine uroporphyrinogen I synthase

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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.

Authors:: Meisler, M H; Carter, M L.C.

Publication Date:: Thu May 01 00:00:00 EDT 1980

Research Org.:: Univ. of Michigan Medical School, Ann Arbor

OSTI Identifier:: 6639655

DOE Contract Number:: E(11-1) (2828)

Resource Type:: Journal Article

Journal Name:: Proc. Natl. Acad. Sci. U.S.A.; (United States)

Additional Journal Information:: Journal Volume: 77:5

Country of Publication:: United States

Language:: English

Subject:: 59 BASIC BIOLOGICAL SCIENCES; ISOENZYMES; GENETIC VARIABILITY; LYASES; CATALYSIS; ERYTHROCYTES; GENES; MAN; METABOLISM; MICE; ANIMALS; BIOLOGICAL MATERIALS; BIOLOGICAL VARIABILITY; BLOOD; BLOOD CELLS; BODY FLUIDS; ENZYMES; MAMMALS; MATERIALS; PRIMATES; RODENTS; VERTEBRATES; 550200* - Biochemistry; 550400 - Genetics

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                    Meisler, M H, and Carter, M L.C. Rare structural variants of human and murine uroporphyrinogen I synthase.  United States: N. p., 1980. 
        Web.  doi:10.1073/pnas.77.5.2848.

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                    Meisler, M H, & Carter, M L.C. Rare structural variants of human and murine uroporphyrinogen I synthase.  United States.  https://doi.org/10.1073/pnas.77.5.2848

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                    Meisler, M H, and Carter, M L.C. 1980.  
        "Rare structural variants of human and murine uroporphyrinogen I synthase".  United States.  https://doi.org/10.1073/pnas.77.5.2848.

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@article{osti_6639655,

  title        = {Rare structural variants of human and murine uroporphyrinogen I synthase},

  author       = {Meisler, M H and Carter, M L.C.},

  abstractNote = {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.},

  doi          = {10.1073/pnas.77.5.2848},

  url          = {https://www.osti.gov/biblio/6639655},
  journal      = {Proc. Natl. Acad. Sci. U.S.A.; (United States)},
number       = ,

  volume       = 77:5,

  place        = {United States},

  year         = {Thu May 01 00:00:00 EDT 1980},

  month        = {Thu May 01 00:00:00 EDT 1980}

}

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