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A new mutation c.422C>G (p.S141C) in homoand heterozygous forms of the human leptin gene

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Abstract

Mutation g.15409C>G, n.422C>G (p.S141C) in homo-and heterozygous forms of the human LEP gene was identified among some patients of the high mountain village of Karaul, Ashkhabad oblast, Turkmenistan, some of which suffer from obesity. It causes the substitution S120C in the secreted leptin. The mature leptin molecule (146 aa) has only two Cys residues (96C and 146C) forming an S-S bridge, which is important for the hormone function. A third mutation, 120C, in the molecule might disturb the correct formation of the S-S bond and could alter the leptin activity.

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Authors and Affiliations

  1. Endocrinological Research Center, Rosmedtechnology, Moskvorech’e 1, Moscow, 115478, Russia

    M. K. Chekhranova, S. K. Karpova & J. A. Pankov

  2. Central Research Institute for Epidemiology, Rospotrebnadzor, Novogireevskaya ul. 6-a, Moscow, 111123, Russia

    S. B. Yatsyshina

Authors
  1. M. K. Chekhranova
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  2. S. K. Karpova
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  3. S. B. Yatsyshina
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  4. J. A. Pankov
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Correspondence to J. A. Pankov.

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Original Russian Text © M.K. Chekhranova, S.K. Karpova, S.B. Yatsyshina, J.A. Pankov, 2008, published in Bioorganicheskaya Khimiya, 2008, Vol. 34, No. 6, pp. 854–856.

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Chekhranova, M.K., Karpova, S.K., Yatsyshina, S.B. et al. A new mutation c.422C>G (p.S141C) in homoand heterozygous forms of the human leptin gene. Russ J Bioorg Chem 34, 768–770 (2008). https://doi.org/10.1134/S1068162008060198

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  • DOI: https://doi.org/10.1134/S1068162008060198

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