Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene

Area of Science:

• Genetics
• Dermatology
• Primate Research

Background:

• Atrichia with papular lesions (APL) is a rare, inherited hair loss disorder.
• Mutations in the hairless (hr) gene are associated with APL in humans and mice.
• The hairless gene encodes a transcription factor crucial for skin and brain development.

Purpose of the Study:

• To sequence the complete hairless (hr) cDNA from rhesus macaques.
• To identify genetic mutations responsible for APL in a rhesus macaque model.
• To compare the phenotype of affected macaques with known APL cases.

Main Methods:

• Complete hr cDNA sequencing in rhesus macaques.
• Genetic analysis to identify mutations in an affected macaque.
• Histopathological examination of cutaneous biopsy samples.

Main Results:

• The complete hr cDNA sequence from the rhesus macaque was determined.
• A compound heterozygous mutation in the hr gene was identified in a hairless macaque.
• Biopsy samples showed abnormal hair follicle development, including dermal cysts and comedones.

Conclusions:

• The identified hr gene mutation in rhesus macaques provides a new model for studying APL.
• This finding reinforces the role of the hairless gene in hair follicle development.
• Further research can utilize this macaque model to understand APL pathogenesis and explore therapeutic strategies.