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Natural mutations in the  LIPH  gene were shown to be responsible for hair growth defects in humans and for the rex short hair phenotype in rabbits. In this species, we identified a single nucleotide deletion in  LIPH  (1362delA) introducing a stop codon in the C-terminal region of the protein. We investigated the expression of  LIPH  between normal coat and rex rabbits during critical fetal stages of hair follicle genesis, in adults and during hair follicle cycles. Transcripts were three times less expressed in both fetal and adult stages of the rex rabbits than in normal rabbits. In addition, the hair growth cycle phases affected the regulation of the transcription level in the normal and mutant phenotypes differently.  LIPH  mRNA and protein levels were higher in the outer root sheath (ORS) than in the inner root sheath (IRS), with a very weak signal in the IRS of rex rabbits.  In vitro  transfection shows that the mutant protein has a reduced lipase activity compared to the wild type form. Our results contribute to the characterization of the  LIPH  mode of action and confirm the crucial role of  LIPH  in hair production.

LIPH Expression in Skin and Hair Follicles of Normal Coat and Rex Rabbits