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Curr Opin Genet Dev June 1, 1996; 6 (3): 334-42.

Transcription factors in disease.

Engelkamp D , van Heyningen V .

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.

PubMed ID: 8791518
Article link: Curr Opin Genet Dev
Grant support: [+]

Species referenced: Xenopus
Genes referenced: pax6 pou3f4 sox9