Transcription factors in disease

doi:10.1016/S0959-437X(96)80011-6

Current Opinion in Genetics & Development

Volume 6, Issue 3, June 1996, Pages 334-342

https://doi.org/10.1016/S0959-437X(96)80011-6 Get rights and content

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 GLI3.

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Transcription factors in disease

Abstract

Curr Opin Genet Dev

Curr Opin Genet Dev

Curr Opin Genet Dev

Cell

Curr Biol

Curr Biol

Curr Biol

Curr Biol

Nature

J Biol Chem

Genes Dev

Science

Cell

Development

Curr Biol

Trends Genet

Cell

Thyroid

Nat Genet

Am J Med Genet

Nat Genet

Cell

Cell

Proc Natl Acad Sci USA

Science

The ames dwarf gene is required for Pit-1 gene activation

Dev Biol

A duplication/ paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Hum Mol Genet

PAX genes: what's new in developmental biology and cancer?

Hum Mol Genet

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

Cell

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

Nat Genet

Mutation of PAX2 in two siblings with renal-coloboma syndrome

Hum Mol Genet

PAX-2 controls multiple steps of urogenital development

Development

Midline signalling is required for Pax gene regulation and patterning of the eyes

Development

Pax6: more than meets the eye

Trends Genet

Mutation of the PAX6 gene in patients with autosomal dominant keratitis

Am J Hum Genet

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

Science

Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3

Nature

Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue

Nature

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

Science