Abstract
We have identified the gene responsible for the inherited zinc deficiency in the lethal milk (lm) mouse. The gene, here designated Znt4, encodes a 430-amino-acid protein that is homologous to two proteins, ZnT2 and ZnT3, responsible for sequestration of zinc into endosomal/lysosomal compartments and synaptic vesicles, respectively. We show that the Znt4 gene confers zinc resistance to a zinc-sensitive yeast strain and that it is abundantly expressed in the mammary epithelia and brain. The lethal milk mutant has a nonsense mutation at arginine codon 297 in the Znt4 gene.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Blood Proteins / genetics
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Carrier Proteins / genetics*
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Carrier Proteins / metabolism*
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Cation Transport Proteins*
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Chromosome Mapping
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Cloning, Molecular
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Cytoskeletal Proteins
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Female
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Humans
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Mammary Glands, Animal / metabolism
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Membrane Proteins
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Mice
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Mice, Inbred C57BL
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Mice, Mutant Strains / genetics*
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Molecular Sequence Data
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Mutation
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Recombinant Proteins / genetics
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Recombinant Proteins / metabolism
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Tissue Distribution
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Yeasts / genetics
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Zinc / deficiency*
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Zinc / metabolism
Substances
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Blood Proteins
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Carrier Proteins
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Cation Transport Proteins
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Cytoskeletal Proteins
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Membrane Proteins
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Recombinant Proteins
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SLC30A4 protein, human
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Slc30a4 protein, mouse
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erythrocyte membrane band 4.2 protein
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Zinc
Associated data
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GENBANK/AF003747
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GENBANK/AF004097
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GENBANK/AF004098
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GENBANK/AF004099
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GENBANK/AF004100
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GENBANK/AF025409