Transcription-Factor Mutations and Disease

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Abstract
Correct regulation of gene expression, so that specific proteins are made by the appropriate organs at the appropriate times or in response to specific signals, is essential both to normal development and to the correct functioning of the adult organism. Such regulation is usually achieved at the level of DNA transcription, a process that controls which genes are transcribed into RNA by the enzyme RNA polymerase, although regulation also occurs after transcription.1 The transcription of specific genes is controlled by regulatory proteins known as transcription factors.2,3 These factors therefore have a vital function in both embryonic development and the . . .