Hairless gene
Synonym(s)
DefinitionThis section has been translated automatically.
The "hairless gene" was first described in 1923 by Bridges and Morgan in the Drosophila fly. In heterozygous flies, the mutation of this gene leads to hair loss on the head and thorax. The encoded mutation protein does not contain the amino acid threonine at the affected section, but the amino acid "alanine".
The human "hairless gene" located in the region 8p12 functions as histone demethylase. The mutation of this demthylase causes a drastic loss of histone methylation in human cells. This defect leads to a disruption of terminal hair development, with miniaturization and malformation of the hair follicle. The defective clinical end product is small follicular cysts with a trichilemmal cornification mode (trichilemmal cyst) and a "goose-skin-like" aspect of the skin (see below Atrichia congenita papulosa).
LiteratureThis section has been translated automatically.
- Chouhan C et al (2015) Atrichia congenita. Indian Dermatol Online J 6:352-353
- Mehmood S et al (2015) Disease causing homozygous variants in the human hairless gene. Int J Dermatol doi: 10.1111/ijd.13109.
- Praxenthaler H et al (2015) Generation of New Hairless Alleles by Genomic Engineering at the Hairless Locus in Drosophila melanogaster. PLoS One 10:e0140007.