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Atrichia with papular lesions (APL) is a rare form of hair loss with an autosomal
recessive mode of inheritance that is characterized by the absence of normal hair
follicles, and formation of intradermal cystic structures. Mutations in the
hairless (hr) gene in mice and humans have been
implicated in the development of this phenotype. Hairless is a
putative transcription factor containing a single zinc-finger DNA binding domain,
with restricted expression in brain and skin. Here, we describe the complete
hr cDNA sequence from the rhesus macaque (Macaca
mulatta) and report the identification of a compound heterozygous
mutation in a hairless rhesus macaque born from unrelated parents. Cutaneous biopsy
samples from the affected macaque revealed abnormalities, including the replacement
of normal hair follicles with dermal cysts and comedones, reminiscent of the skin
phenotype observed in hairless mice and humans with APL.