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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Transcription factors in disease.

Mutations affecting several predominantly tissue-specific transcriptional regulators have recently been associated with disease phenotypes. Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations-such as Waardenburg syndrome type 1, aniridia and Rubinstein-Taybi syndrome-suggesting that the genetic mechanism involved in disease is haplo-insufficiency. The high degree of dosage sensitivity often appears to affect only a subset of the tissues that express the gene. Position effects with cytogenetic rearrangements well outside the coding region have been implicated for four of the genes discussed: POU3F4, SOX9, PAX6, and GL13.[1]


  1. Transcription factors in disease. Engelkamp, D., van Heyningen, V. Curr. Opin. Genet. Dev. (1996) [Pubmed]
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