Abstract
One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter impair transcription by disrupting the binding site for the liver-enriched transcription factor LF-A1/HNF4. The -26 but not the -20 mutation also disrupts an androgen-responsive element, which overlaps the LF-A1/HNF4 site. This explains the improvement seen in patients with the -20 mutation and the failure of the -26 patient to recover.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Binding Sites / genetics
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Binding, Competitive
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Cloning, Molecular
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Electrophoresis, Polyacrylamide Gel
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Factor IX / physiology*
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Hemophilia B / genetics*
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Humans
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Molecular Sequence Data
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Mutation
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Promoter Regions, Genetic / physiology*
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Receptors, Androgen / metabolism
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Sequence Homology, Nucleic Acid
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Transcription Factors / genetics
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Transcription Factors / metabolism
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Transcription, Genetic
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Transfection
Substances
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LF-A1 protein, human
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Receptors, Androgen
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Transcription Factors
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factor IX Leyden
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Factor IX