Forkhead genes and human disease

• Authors: R.P. Erickson
• Languages of publication: EN

Abstracts

EN

Forkhead, or Fox-box genes, code for winged helix transcription factors that make up a multi-gene family. Two human genetic diseases have recently been associated with loss of function of one allele of different Fox-box genes: Axenfeld-Rieger anomaly of the anterior eye chamber associated with haploinsufficiency of FOXC1 and lymphedema-distichiasis associated with haploinsufficiency of FOXC2. Earlier, both genes had been studied intensively for their transcription patterns and for the phenotypes of knockouts. These studies are reviewed and related to the phenotypes found in the two human disorders.

Keywords

EN

AXENFELD-RIEGER ANOMALY; FORKHEAD GENE; LYMPHEDEMA-DISTICHIASIS; MESODERMAL DEVELOPMENT; WINGED HELIX DOMAIN

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2001
• Volume: 42
• Issue: 2
• Pages: 211-221

Contributors

author

R.P. Erickson

• Document Type: REVIEW
• Publication order reference: R.P. Erickson, Department of Pediatrics/4341A, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, Arizona 85724-5073, USA, e-mail: [e-mail]