XB-ART-18118
Curr Opin Genet Dev
June 1, 1996;
6
(3):
334-42.
Transcription factors in disease.
Abstract
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