title: LIPH expression in skin and hair follicles of normal coat and Rex rabbits.
abstract: 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.
authors.affiliation: INRA, UMR1313, Unité de Génétique Animale et Biologie Intégrative, Jouy-en-Josas, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Diribarne
authors.forename: Xavier
authors.initials: X
authors.lastname: Mata
authors.forename: Julie
authors.initials: J
authors.lastname: Rivière
authors.forename: Stéphan
authors.initials: S
authors.lastname: Bouet
authors.forename: Anne
authors.initials: A
authors.lastname: Vaiman
authors.forename: Jérôme
authors.initials: J
authors.lastname: Chapuis
authors.forename: Fabienne
authors.initials: F
authors.lastname: Reine
authors.forename: Renaud
authors.initials: R
authors.lastname: Fleurot
authors.forename: Gérard
authors.initials: G
authors.lastname: Auvinet
authors.forename: Séverine
authors.initials: S
authors.lastname: Deretz
authors.forename: Daniel
authors.initials: D
authors.lastname: Allain
authors.forename: Laurent
authors.initials: L
authors.lastname: Schibler
authors.forename: Edmond-Paul
authors.initials: EP
authors.lastname: Cribiu
authors.forename: Gérard
authors.initials: G
authors.lastname: Guérin
mesh_terms: D000818:Animals; D016466:CHO Cells; D006224:Cricetinae; D003412:Cricetulus; D005260:Female; D018507:Gene Expression Regulation, Developmental; D015971:Gene Expression Regulation, Enzymologic; D005838:Genotype; D006197:Hair / Q000201:enzymology / Q000378:metabolism; D018859:Hair Follicle / Q000201:enzymology / Q000254:growth & development / Q000378:metabolism*; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D008049:Lipase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D050505:Mutant Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D054466:Phospholipases A1 / Q000235:genetics / Q000378:metabolism; D011817:Rabbits; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D012867:Skin / Q000201:enzymology / Q000378:metabolism*; D014162:Transfection
chemical_list: D050505:Mutant Proteins; D008049:Lipase; D054466:Phospholipases A1