LIPH expression in skin and hair follicles of normal coat and Rex rabbits

Autor: Stephan Bouet, Mathieu Diribarne, Xavier Mata, Séverine Deretz, Fabienne Reine, Laurent Schibler, Gérard Auvinet, Edmond-Paul Cribiu, Jérôme Chapuis, Julie Rivière, Gérard Guérin, Daniel Allain, Renaud Fleurot, Anne Vaiman
Přispěvatelé: Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Unité de recherche Virologie et Immunologie Moléculaires (VIM (UR 0892)), Institut National de la Recherche Agronomique (INRA), Génétique Expérimentale en Productions Animales (GEPA), Station d'Amélioration Génétique des Animaux (SAGA), laboratoire de Virologie Immunologie Moléculaire, INRA, Jouy, AgroParisTech-Institut National de la Recherche Agronomique (INRA), Guérin, Gerard
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Male
Anatomy and Physiology
Mutant
lcsh:Medicine
MESH: Rabbits
MESH: Cricetinae
Outer root sheath
Inner root sheath
MESH: Lipase
MESH: Genotype
MESH: Mutant Proteins
0302 clinical medicine
MESH: Cricetulus
Mutant protein
Cricetinae
MESH: Reverse Transcriptase Polymerase Chain Reaction
Gene expression
MESH: Gene Expression Regulation
Developmental

mutation
rex
rabbit
liph gene
skin
hair follicle
MESH: Animals
lcsh:Science
MESH: Phospholipases A1
In Situ Hybridization
Sequence Deletion
Animal Management
0303 health sciences
Multidisciplinary
integumentary system
Reverse Transcriptase Polymerase Chain Reaction
MESH: Gene Expression Regulation
Enzymologic

Gene Expression Regulation
Developmental

Agriculture
Genomics
MESH: Sequence Deletion
Immunohistochemistry
medicine.anatomical_structure
Phenotype
030220 oncology & carcinogenesis
Medicine
Female
MESH: Hair Follicle
Rabbits
MESH: Hair
Research Article
MESH: Mutation
Genotype
CHO Cells
Dermatology
Biology
Transfection
MESH: Phenotype
Gene Expression Regulation
Enzymologic

Molecular Genetics
03 medical and health sciences
Cricetulus
MESH: In Situ Hybridization
MESH: Skin
MESH: CHO Cells
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry
Molecular Biology/Genomics [q-bio.GN]

medicine
Genetics
Animals
030304 developmental biology
Messenger RNA
MESH: Transfection
lcsh:R
Wild type
MESH: Immunohistochemistry
Lipase
Hair follicle
Molecular biology
Phospholipases A1
MESH: Male
Mutant Proteins
lcsh:Q
MESH: Female
Hair
Zdroj: PLoS ONE
PLoS ONE, Public Library of Science, 2012, 7 (1), pp.e30073. ⟨10.1371/journal.pone.0030073⟩
PLoS ONE, Vol 7, Iss 1, p e30073 (2012)
Plos One 1 (7, online), Non paginé. (2012)
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0030073⟩
Popis: Chantier qualité spécifique "Auteurs Externes" département de Génétique animale : uniquement liaison auteur au référentiel HR-Access; International audience; 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.
Databáze: OpenAIRE