Characterization of a new splicing mutation in the steroid 21-hydroxylase gene |
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| Authors: | P M Rubtsov E L Igudin M Yu Pichugina P V Spirin V S Prassolov A N Tyul’pakov |
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| Institution: | 1.Engelhardt Institute of Molecular Biology,Russian Academy of Sciences,Moscow,Russia;2.Moscow Institute of Physics and Technology,Moscow,Russia;3.Endocrinological Research Center,Moscow,Russia |
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| Abstract: | We identified a novel mutation in the CYP21A2 gene, a C to G substitution in the 7-position of the intron 2 acceptor splice site (c.290-7C>G), which causes a steroid 21-hydroxylase
deficiency. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in cultured mammalian cells. The mutation impairs the use of the intron 2 acceptor splice site, resulting
in intron retention in mRNA. |
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