DOI: 10.1038/ng0696-219. A murine model of Menkes disease reveals a physiological function of metallothionein

A murine model of Menkes disease reveals a physiological function of metallothionein

10.1038/ng0696-219

Crossref journal-article

Springer Science and Business Media LLC

Nature Genetics (297)

Bibliography

Kelly, E. J., & Palmiter, R. D. (1996). A murine model of Menkes disease reveals a physiological function of metallothionein. Nature Genetics, 13(2), 219â222.

Authors 2

Edward J. Kelly (first)
Richard D. Palmiter (additional)

References 26 Referenced 113

Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7–13 (1993). (10.1038/ng0193-7) / Nature Genet. by C Vulpe (1993)
Chelly, J. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3, 14–19 (1993). (10.1038/ng0193-14) / Nature Genet. by J Chelly (1993)
Mercer, J.F. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20–25 (1993). (10.1038/ng0193-20) / Nature Genet. by JF Mercer (1993)
Levinson, B. et al. The mottled gene is the mouse homologue of the Menkes disease gene. Nature Genet. 6, 369–373 (1994). (10.1038/ng0494-369) / Nature Genet. by B Levinson (1994)
Mercer, J.F.B. et al. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nature Genet. 6, 374–378 (1994). (10.1038/ng0494-374) / Nature Genet. by JFB Mercer (1994)
Hunt, D.M. & Port, A.E. Trace element binding in the copper deficient mottled mutants in the mouse. Life Sci. 24, 1453–1466 (1979). (10.1016/0024-3205(79)90028-6) / Life Sci. by DM Hunt (1979)
Masters, B.A., Kelly, E.J., Quaife, C.J., Brinster, R.L. & Palmiter, R.D. Targeted disruption of metallothionein I and II genes increases sensitivity to cadmium. Proc. Natl. Acad. Sci. USA 91, 584–588 (1994). (10.1073/pnas.91.2.584) / Proc. Natl. Acad. Sci. USA by BA Masters (1994)
West, J.D., Frels, W.I., Chapman, V.M. & Papaioannou, V.E. Preferential expression of the maternally derived X chromosome in the mouse yolk sac. Cell 12, 873–882 (1977). (10.1016/0092-8674(77)90151-9) / Cell by JD West (1977)
Kägi, J.H.R., Evolution, structure and chemical activity of class I metallothioneins: an overview, in Metallothionein III: Biological Roles and Medical Implications (eds. Suzuki, K.T., Imura, N. & Kimura, M.) 29–55 (Birkhäuser Verlag, Bäsel, Switzerland, 1993). / Metallothionein III: Biological Roles and Medical Implications by JHR Kägi (1993)
Iszard, M.B. et al. Characterization of metallothionein-l-transgenic mice. ToxicolAppl. Pharmacol. 133, 305–312 (1995). / ToxicolAppl. Pharmacol. by MB Iszard (1995)
Michalska, A.E. & Choo, A.K.H. Taigeted and germ-line transmission of a null mutation at the metallothionein I and II loci in mouse. Proc. Natl. Acad. Sci. USA 90, 8088–8092 (1993). (10.1073/pnas.90.17.8088) / Proc. Natl. Acad. Sci. USA by AE Michalska (1993)
Kelly, E.J. & Palmiter, R.D. Metallothionein-I and -II protect against zinc deficiency and zinc toxicrty. J. Nutr. (in the press).
Cuthbert, J.A. Wilson's disease: a new gene and an animal model for an old disease. J. Investig. Med. 43, 323–326 (1995). / J. Investig. Med. by JA Cuthbert (1995)
Palmiter, R.D. & Findley, S.D. Cloning and functional characterization of a mammalian zinc transporter that confers resistance to zinc. EMBO J. 14, 639–649 (1995). (10.1002/j.1460-2075.1995.tb07042.x) / EMBO J. by RD Palmiter (1995)
Hunt, D.M. Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249, 852–854 (1974). (10.1038/249852a0) / Nature by DM Hunt (1974)
Database (MGD), Mouse Genome Informatics Project, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (URL: http://www.informatics.jax.org) (July, 1995).
Philips, M., Camakaris, J. & Danks, D.M. Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Biochem. J. 238, 177–183 (1986). (10.1042/bj2380177) / Biochem. J. by M Philips (1986)
Andrews, G.K., Adamson, E.D. & Gedamu, L. The ontogeny of murine metallothionein: comparison with the α-fetoprotein gene. Dev. Biol. 103, 294–303 (1984). (10.1016/0012-1606(84)90317-8) / Dev. Biol. by GK Andrews (1984)
Shao, C. & Takagi, N. An extra maternally derived X chromosome is deleterious to early mouse development. Development 110, 969–975 (1990). (10.1242/dev.110.3.969) / Development by C Shao (1990)
Harrison, K.B. X-chromosome inactivation in the human cytotrophoblast. Cytogenet Cell. Genet. 52, 37–41 (1989). (10.1159/000132835) / Cytogenet Cell. Genet. by KB Harrison (1989)
Migeon, B.R., Wolf, S.F., Axelman, J., Kaslow, D.C. & Schmidt, M. Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc. Natl. Acad. Sci. USA 82, 3390–3394 (1985). (10.1073/pnas.82.10.3390) / Proc. Natl. Acad. Sci. USA by BR Migeon (1985)
McArdle, H.J. & Eriich, R. Copper uptake and transfer to the mouse fetus during pregnancy. J. Nutr. 121, 208–214 (1991). (10.1093/jn/121.2.208) / J. Nutr. by HJ McArdle (1991)
Palmiter, R.D., Sandgren, E.R., Koeller, D.M. & Brinster, R.L. Distal regulatory elements from the mouse metallothionein locus stimulate gene expression in transgenic mice. Mol. Cell. Biol. 13, 5266–5275 (1993). (10.1128/MCB.13.9.5266) / Mol. Cell. Biol. by RD Palmiter (1993)
Palmiter, R.D., Findley, S.D., Whitmore, T.E. & Durnam, D.M. MT-III, a brain-specific member of the metallothionein gene family. Proc. Natl. Acad. Sci. USA 89, 6333–6337 (1992). (10.1073/pnas.89.14.6333) / Proc. Natl. Acad. Sci. USA by RD Palmiter (1992)
Freshney, R.I., in Culture of Animal Cells: A Manual of Basic Technique, 2ndEdn. 107–126 (Alan R. Liss, Inc., New York, 1987). / Culture of Animal Cells: A Manual of Basic Technique by RI Freshney (1987)
Mossman, T. Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. J. Immunol. Methods 65, 55–63 (1983). (10.1016/0022-1759(83)90303-4) / J. Immunol. Methods by T Mossman (1983)

Dates

Type	When
Created	21 years ago (Aug. 18, 2004, 4:18 p.m.)
Deposited	2 years, 3 months ago (May 18, 2023, 4:41 p.m.)
Indexed	2 months, 1 week ago (June 10, 2025, 1:27 p.m.)
Issued	29 years, 2 months ago (June 1, 1996)
Published	29 years, 2 months ago (June 1, 1996)
Published Print	29 years, 2 months ago (June 1, 1996)

Funders 0

None

BibTeX

@article{Kelly_1996, title={A murine model of Menkes disease reveals a physiological function of metallothionein}, volume={13}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng0696-219}, DOI={10.1038/ng0696-219}, number={2}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Kelly, Edward J. and Palmiter, Richard D.}, year={1996}, month=jun, pages={219–222} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        6,
        10
      ]
    ],
    "date-time": "2025-06-10T17:27:13Z",
    "timestamp": 1749576433016
  },
  "reference-count": 26,
  "publisher": "Springer Science and Business Media LLC",
  "issue": "2",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1996,
            6,
            1
          ]
        ],
        "date-time": "1996-06-01T00:00:00Z",
        "timestamp": 833587200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "http://www.springer.com/tdm"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1996,
        6
      ]
    ]
  },
  "DOI": "10.1038/ng0696-219",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2004,
        8,
        18
      ]
    ],
    "date-time": "2004-08-18T20:18:55Z",
    "timestamp": 1092860335000
  },
  "page": "219-222",
  "source": "Crossref",
  "is-referenced-by-count": 113,
  "title": "A murine model of Menkes disease reveals a physiological function of metallothionein",
  "prefix": "10.1038",
  "volume": "13",
  "author": [
    {
      "given": "Edward J.",
      "family": "Kelly",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Richard D.",
      "family": "Palmiter",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "297",
  "reference": [
    {
      "key": "BFng0696219_CR1",
      "doi-asserted-by": "publisher",
      "first-page": "7",
      "DOI": "10.1038/ng0193-7",
      "volume": "3",
      "author": "C Vulpe",
      "year": "1993",
      "unstructured": "Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7\u201313 (1993).",
      "journal-title": "Nature Genet."
    },
    {
      "key": "BFng0696219_CR2",
      "doi-asserted-by": "publisher",
      "first-page": "14",
      "DOI": "10.1038/ng0193-14",
      "volume": "3",
      "author": "J Chelly",
      "year": "1993",
      "unstructured": "Chelly, J. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3, 14\u201319 (1993).",
      "journal-title": "Nature Genet."
    },
    {
      "key": "BFng0696219_CR3",
      "doi-asserted-by": "publisher",
      "first-page": "20",
      "DOI": "10.1038/ng0193-20",
      "volume": "3",
      "author": "JF Mercer",
      "year": "1993",
      "unstructured": "Mercer, J.F. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20\u201325 (1993).",
      "journal-title": "Nature Genet."
    },
    {
      "key": "BFng0696219_CR4",
      "doi-asserted-by": "publisher",
      "first-page": "369",
      "DOI": "10.1038/ng0494-369",
      "volume": "6",
      "author": "B Levinson",
      "year": "1994",
      "unstructured": "Levinson, B. et al. The mottled gene is the mouse homologue of the Menkes disease gene. Nature Genet. 6, 369\u2013373 (1994).",
      "journal-title": "Nature Genet."
    },
    {
      "key": "BFng0696219_CR5",
      "doi-asserted-by": "publisher",
      "first-page": "374",
      "DOI": "10.1038/ng0494-374",
      "volume": "6",
      "author": "JFB Mercer",
      "year": "1994",
      "unstructured": "Mercer, J.F.B. et al. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nature Genet. 6, 374\u2013378 (1994).",
      "journal-title": "Nature Genet."
    },
    {
      "key": "BFng0696219_CR6",
      "doi-asserted-by": "publisher",
      "first-page": "1453",
      "DOI": "10.1016/0024-3205(79)90028-6",
      "volume": "24",
      "author": "DM Hunt",
      "year": "1979",
      "unstructured": "Hunt, D.M. & Port, A.E. Trace element binding in the copper deficient mottled mutants in the mouse. Life Sci. 24, 1453\u20131466 (1979).",
      "journal-title": "Life Sci."
    },
    {
      "key": "BFng0696219_CR7",
      "doi-asserted-by": "publisher",
      "first-page": "584",
      "DOI": "10.1073/pnas.91.2.584",
      "volume": "91",
      "author": "BA Masters",
      "year": "1994",
      "unstructured": "Masters, B.A., Kelly, E.J., Quaife, C.J., Brinster, R.L. & Palmiter, R.D. Targeted disruption of metallothionein I and II genes increases sensitivity to cadmium. Proc. Natl. Acad. Sci. USA 91, 584\u2013588 (1994).",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "BFng0696219_CR8",
      "doi-asserted-by": "publisher",
      "first-page": "873",
      "DOI": "10.1016/0092-8674(77)90151-9",
      "volume": "12",
      "author": "JD West",
      "year": "1977",
      "unstructured": "West, J.D., Frels, W.I., Chapman, V.M. & Papaioannou, V.E. Preferential expression of the maternally derived X chromosome in the mouse yolk sac. Cell 12, 873\u2013882 (1977).",
      "journal-title": "Cell"
    },
    {
      "key": "BFng0696219_CR9",
      "first-page": "29",
      "volume-title": "Metallothionein III: Biological Roles and Medical Implications",
      "author": "JHR K\u00e4gi",
      "year": "1993",
      "unstructured": "K\u00e4gi, J.H.R., Evolution, structure and chemical activity of class I metallothioneins: an overview, in Metallothionein III: Biological Roles and Medical Implications (eds. Suzuki, K.T., Imura, N. & Kimura, M.) 29\u201355 (Birkh\u00e4user Verlag, B\u00e4sel, Switzerland, 1993)."
    },
    {
      "key": "BFng0696219_CR10",
      "first-page": "305",
      "volume": "133",
      "author": "MB Iszard",
      "year": "1995",
      "unstructured": "Iszard, M.B. et al. Characterization of metallothionein-l-transgenic mice. ToxicolAppl. Pharmacol. 133, 305\u2013312 (1995).",
      "journal-title": "ToxicolAppl. Pharmacol."
    },
    {
      "key": "BFng0696219_CR11",
      "doi-asserted-by": "publisher",
      "first-page": "8088",
      "DOI": "10.1073/pnas.90.17.8088",
      "volume": "90",
      "author": "AE Michalska",
      "year": "1993",
      "unstructured": "Michalska, A.E. & Choo, A.K.H. Taigeted and germ-line transmission of a null mutation at the metallothionein I and II loci in mouse. Proc. Natl. Acad. Sci. USA 90, 8088\u20138092 (1993).",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "BFng0696219_CR12",
      "unstructured": "Kelly, E.J. & Palmiter, R.D. Metallothionein-I and -II protect against zinc deficiency and zinc toxicrty. J. Nutr. (in the press)."
    },
    {
      "key": "BFng0696219_CR13",
      "first-page": "323",
      "volume": "43",
      "author": "JA Cuthbert",
      "year": "1995",
      "unstructured": "Cuthbert, J.A. Wilson's disease: a new gene and an animal model for an old disease. J. Investig. Med. 43, 323\u2013326 (1995).",
      "journal-title": "J. Investig. Med."
    },
    {
      "key": "BFng0696219_CR14",
      "doi-asserted-by": "publisher",
      "first-page": "639",
      "DOI": "10.1002/j.1460-2075.1995.tb07042.x",
      "volume": "14",
      "author": "RD Palmiter",
      "year": "1995",
      "unstructured": "Palmiter, R.D. & Findley, S.D. Cloning and functional characterization of a mammalian zinc transporter that confers resistance to zinc. EMBO J. 14, 639\u2013649 (1995).",
      "journal-title": "EMBO J."
    },
    {
      "key": "BFng0696219_CR15",
      "doi-asserted-by": "publisher",
      "first-page": "852",
      "DOI": "10.1038/249852a0",
      "volume": "249",
      "author": "DM Hunt",
      "year": "1974",
      "unstructured": "Hunt, D.M. Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249, 852\u2013854 (1974).",
      "journal-title": "Nature"
    },
    {
      "key": "BFng0696219_CR16",
      "unstructured": "Database (MGD), Mouse Genome Informatics Project, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (URL: http://www.informatics.jax.org) (July, 1995)."
    },
    {
      "key": "BFng0696219_CR17",
      "doi-asserted-by": "publisher",
      "first-page": "177",
      "DOI": "10.1042/bj2380177",
      "volume": "238",
      "author": "M Philips",
      "year": "1986",
      "unstructured": "Philips, M., Camakaris, J. & Danks, D.M. Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Biochem. J. 238, 177\u2013183 (1986).",
      "journal-title": "Biochem. J."
    },
    {
      "key": "BFng0696219_CR18",
      "doi-asserted-by": "publisher",
      "first-page": "294",
      "DOI": "10.1016/0012-1606(84)90317-8",
      "volume": "103",
      "author": "GK Andrews",
      "year": "1984",
      "unstructured": "Andrews, G.K., Adamson, E.D. & Gedamu, L. The ontogeny of murine metallothionein: comparison with the \u03b1-fetoprotein gene. Dev. Biol. 103, 294\u2013303 (1984).",
      "journal-title": "Dev. Biol."
    },
    {
      "key": "BFng0696219_CR19",
      "doi-asserted-by": "crossref",
      "first-page": "969",
      "DOI": "10.1242/dev.110.3.969",
      "volume": "110",
      "author": "C Shao",
      "year": "1990",
      "unstructured": "Shao, C. & Takagi, N. An extra maternally derived X chromosome is deleterious to early mouse development. Development 110, 969\u2013975 (1990).",
      "journal-title": "Development"
    },
    {
      "key": "BFng0696219_CR20",
      "doi-asserted-by": "publisher",
      "first-page": "37",
      "DOI": "10.1159/000132835",
      "volume": "52",
      "author": "KB Harrison",
      "year": "1989",
      "unstructured": "Harrison, K.B. X-chromosome inactivation in the human cytotrophoblast. Cytogenet Cell. Genet. 52, 37\u201341 (1989).",
      "journal-title": "Cytogenet Cell. Genet."
    },
    {
      "key": "BFng0696219_CR21",
      "doi-asserted-by": "publisher",
      "first-page": "3390",
      "DOI": "10.1073/pnas.82.10.3390",
      "volume": "82",
      "author": "BR Migeon",
      "year": "1985",
      "unstructured": "Migeon, B.R., Wolf, S.F., Axelman, J., Kaslow, D.C. & Schmidt, M. Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc. Natl. Acad. Sci. USA 82, 3390\u20133394 (1985).",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "BFng0696219_CR22",
      "doi-asserted-by": "publisher",
      "first-page": "208",
      "DOI": "10.1093/jn/121.2.208",
      "volume": "121",
      "author": "HJ McArdle",
      "year": "1991",
      "unstructured": "McArdle, H.J. & Eriich, R. Copper uptake and transfer to the mouse fetus during pregnancy. J. Nutr. 121, 208\u2013214 (1991).",
      "journal-title": "J. Nutr."
    },
    {
      "key": "BFng0696219_CR23",
      "doi-asserted-by": "publisher",
      "first-page": "5266",
      "DOI": "10.1128/MCB.13.9.5266",
      "volume": "13",
      "author": "RD Palmiter",
      "year": "1993",
      "unstructured": "Palmiter, R.D., Sandgren, E.R., Koeller, D.M. & Brinster, R.L. Distal regulatory elements from the mouse metallothionein locus stimulate gene expression in transgenic mice. Mol. Cell. Biol. 13, 5266\u20135275 (1993).",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "BFng0696219_CR24",
      "doi-asserted-by": "publisher",
      "first-page": "6333",
      "DOI": "10.1073/pnas.89.14.6333",
      "volume": "89",
      "author": "RD Palmiter",
      "year": "1992",
      "unstructured": "Palmiter, R.D., Findley, S.D., Whitmore, T.E. & Durnam, D.M. MT-III, a brain-specific member of the metallothionein gene family. Proc. Natl. Acad. Sci. USA 89, 6333\u20136337 (1992).",
      "journal-title": "Proc. Natl. Acad. Sci. USA"
    },
    {
      "key": "BFng0696219_CR25",
      "first-page": "107",
      "volume-title": "Culture of Animal Cells: A Manual of Basic Technique",
      "author": "RI Freshney",
      "year": "1987",
      "unstructured": "Freshney, R.I., in Culture of Animal Cells: A Manual of Basic Technique, 2ndEdn. 107\u2013126 (Alan R. Liss, Inc., New York, 1987)."
    },
    {
      "key": "BFng0696219_CR26",
      "doi-asserted-by": "publisher",
      "first-page": "55",
      "DOI": "10.1016/0022-1759(83)90303-4",
      "volume": "65",
      "author": "T Mossman",
      "year": "1983",
      "unstructured": "Mossman, T. Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. J. Immunol. Methods 65, 55\u201363 (1983).",
      "journal-title": "J. Immunol. Methods"
    }
  ],
  "container-title": "Nature Genetics",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "http://www.nature.com/articles/ng0696-219",
      "content-type": "text/html",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/ng0696-219.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/ng0696-219.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2023,
        5,
        18
      ]
    ],
    "date-time": "2023-05-18T20:41:27Z",
    "timestamp": 1684442487000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.nature.com/articles/ng0696-219"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1996,
        6
      ]
    ]
  },
  "references-count": 26,
  "journal-issue": {
    "issue": "2",
    "published-print": {
      "date-parts": [
        [
          1996,
          6
        ]
      ]
    }
  },
  "alternative-id": [
    "BFng0696219"
  ],
  "URL": "http://dx.doi.org/10.1038/ng0696-219",
  "relation": {},
  "ISSN": [
    "1061-4036",
    "1546-1718"
  ],
  "subject": [],
  "container-title-short": "Nat Genet",
  "published": {
    "date-parts": [
      [
        1996,
        6
      ]
    ]
  }
}