Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans (original) (raw)

References

  1. Smith, A.I. Funder, J.W. Proopiomelanocortin processing in the pituitary, central nervous system and peripheral tissues. Endocr. Rev. 9, 159–179 ( 1988).
    Article CAS Google Scholar
  2. Nussey, S.S. et al. Isolated congenital ACTH deficiency: A cleavage enzyme defect? Clin. Endocr. 39, 381–385 (1993).
    Article CAS Google Scholar
  3. Lu, D. et al. Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371, 799–802 ( 1994).
    Article CAS Google Scholar
  4. Huszar, D. et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 88, 131–141 (1997).
    Article CAS Google Scholar
  5. Fan, W., Boston, B.A., Kesterson, R.A., Hruby, V.J. Cone, R.D. Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 385, 165–168 (1997).
    Article CAS Google Scholar
  6. Comuzzie, A.G. et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nature Genet. 15, 273–275 (1997).
    Article CAS Google Scholar
  7. Seeley, R.J. et al. Melanocortin receptors in leptin effects. Nature 390 , 349 (1997).
    Article CAS Google Scholar
  8. Takahashi, H. et al. Complete nucleotide sequence of the human corticotropin-lipoprotein precursor gene. Nucleic Acids Res. 11, 6847–6858 (1983).
    Article CAS Google Scholar
  9. Takahashi, H., Teranishi, Y., Nakanishi, S. Huma, S. Isolation and structural organization of the human corticotropin-lipotropin precursor gene. FEBS Lett. 135, 97–102 ( 1981).
    Article CAS Google Scholar
  10. Kozak, M. The scanning model for translation: an update. J. Cell Biol. 108, 229–241 (1989).
    Article CAS Google Scholar
  11. Kozak, M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eucaryotic ribosomes. Cell 44, 283–292 (1986).
    Article CAS Google Scholar
  12. Morle, F., Lopez, B., Henni, T. Godet, J. α-thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon. EMBO J. 4, 1245–1250 (1985).
    Article CAS Google Scholar
  13. Rutishauser, J. et al. A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegragtion with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus. J. Clin. Endcrinol. Metab. 81, 192–198 (1996).
    CAS Google Scholar
  14. Bergenheim, N.C.H., Venta, P.J., Hopkins, P.J., Kim, H.J. Tashian, R.E. Mutation creates an open reading frame within the 5`untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation. Proc. Natl. Acad. Sci. USA 89, 8798–8802 (1992).
    Article Google Scholar
  15. Siracusa, L.D. The agouti gene: turned on to yellow. Trends Genet. 10, 423–428 (1994).
    Article CAS Google Scholar
  16. Klungland, H., Vage, D.I., Gomez-Raya, L., Adalsteinsson, S. Lien, S. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm. Genome 6, 636–639 (1995).
    Article CAS Google Scholar
  17. Joerg, H., Fries, H.R., Meijernik, E. Stranzinger, G.F. Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mamm. Genome 7, 317–318 ( 1996).
    Article CAS Google Scholar
  18. Valverde, P., Healy, E., Jackson, I., Rees, J.L. Thody, A.J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11, 328–330 (1995).
    Article CAS Google Scholar
  19. Box, N.F., Wyeth, J.R., O'Gorman, L.E., Martin, N.G. Sturm, R.A. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 6, 1891–1897 ( 1997).
    Article CAS Google Scholar
  20. Cone, R.D. et al. The melanocortin receptors: agonists, antagonists and the hormonal control of pigmentation. Rec. Prog. Horm. Res. 51, 287–318 (1996).
    CAS PubMed Google Scholar
  21. Jackson, R.S. et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nature Genet. 16 , 303–306 (1997).
    Article CAS Google Scholar
  22. Chen, W. et al. Exocrine gland dysfunction in MC5-R deficient mice: evidence for coordinated regulation of exocrine gland function by melanocorin peptides. Cell 91, 789–798 ( 1997).
    Article CAS Google Scholar
  23. Montague, C.T. et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 387, 903–908 (1997).
    Article CAS Google Scholar
  24. Strobel, A., Issad, T., Camoin, L., Ozata, M. Strosberg, A.D. A leptin missense mutation associated with hypogonadism and morbid obesity. Nature Genet. 18, 213 –215 (1998).
    Article CAS Google Scholar
  25. Clement, K. et al. A mutation in the human leptin receptor gene caused obesity and pituitary dysfunction. Nature 392, 398–401 (1998).
    Article CAS Google Scholar
  26. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766–2770 (1989).
    Article CAS Google Scholar

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