Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia.

Abstract

BACKGROUND:

Mouse models of human diseases help identify gene defects.

OBJECTIVE:

The methods of homozygosity mapping and mouse/human homology to identify genes are reviewed. The genotype/phenotype correlation in two clinical entities with mutations in the human hairless gene are discussed.

METHODS:

The example of the hairless mouse's contribution to our knowledge of hereditary alopecia is used, and the utility of consanguineous families for genetic studies is highlighted.

RESULTS:

Mutations in the human homolog of the mouse hairless gene lead to congenital alopecia universalis and atrichia with papules.

CONCLUSION:

A mouse model of congenital alopecia has led to understanding the molecular basis of at least one type of severe human alopecia.

• Authors: S J Bale
• Journal: Journal of cutaneous medicine and surgery (J Cutan Med Surg) Vol. 3 Issue 6 Pg. 309-11 (Oct 1999) ISSN: 1203-4754 [Print] United States
• PMID: 10575161 (Publication Type: Journal Article)

Topics

• Alopecia (congenital, genetics)
• Animals
• Chromosome Mapping
• Consanguinity
• Disease Models, Animal
• Genotype
• Homozygote
• Humans
• Male
• Mice
• Mice, Hairless (genetics)
• Phenotype