Titre
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Lefevre, P.
Auteure/Auteur
Rochat, A.
Auteure/Auteur
Bodemer, C.
Auteure/Auteur
Vabres, P.
Auteure/Auteur
Barrandon, Y.
Auteure/Auteur
de Prost, Y.
Auteure/Auteur
Garner, C.
Auteure/Auteur
Hovnanian, A.
Auteure/Auteur
Liens vers les personnes
Barrandon, Yann
arochat6
Liens vers les unités
Recherche chirurgicale
ISSN
1018-4813
Statut éditorial
Date de publication
2000-04
Volume
8
Numéro
4
Première page
273
Dernière page/numéro d’article
9
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Résumé
Marie-Unna hypotrichosis (MU) is a rare autosomal dominant congenital alopecia characterised by progressive hair loss starting in early childhood, often aggravated at puberty and leading to scarring alopecia of variable severity. We have studied three multigeneration families of Belgian, British and French descent. The human genome was screened with microsatellite markers spaced at 10-cM intervals and significant evidence for linkage to the disease was observed on chromosome 8p21, with a maximum two-point lod score of 8.26 for D8S1786 at a recombination fraction of 0. Recombinants narrowed the region of interest to a genetic interval of about 12 cM flanked by markers D8S280 and D8S1839. This interval contains the hairless gene which is mutated in autosomal recessive congenital atrichia. Sequencing of the entire coding region and intronic splice sites of the hairless gene in these three families and in two unrelated familial cases revealed several polymorphic changes but failed to identify causative mutations. Nine other genes located within this region and expressed in skin were also excluded by mutation analysis. Together with a recent linkage study performed in a Dutch and a British family by van Steensel et al these results provide evidence for the presence of a gene distinct from hairless in chromosomal region 8p21 playing an important role in hair follicle biology.
Sujets
PID Serval
serval:BIB_990531451C1A
PMID
Open Access
Date de création
2008-01-28T07:41:45.748Z
Date de création dans IRIS
2025-05-20T23:09:30Z