BACKGROUND: Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft. OBJECTIVES: We aimed to evaluate a number of chromosomal loci as possible candidate regions for HMU. METHODS: A linkage analysis was performed in a large German family using microsatellite markers spanning candidate regions on chromosomes 8, 12 and 17. RESULTS: We found that the HMU locus maps to chromosomal region 8p21 in a 13.01-cM interval between markers D8S1145 and D8S1771. This interval harbours the hairless gene (HR). Mutational analysis of HR on the genomic and transcript levels revealed no pathogenic mutation. CONCLUSIONS: Our findings, together with a recent report of two unrelated families of Dutch and British origin, provide evidence for a hair growth regulatory gene distinct from HR in chromosomal region 8p21.
BACKGROUND:Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft. OBJECTIVES: We aimed to evaluate a number of chromosomal loci as possible candidate regions for HMU. METHODS: A linkage analysis was performed in a large German family using microsatellite markers spanning candidate regions on chromosomes 8, 12 and 17. RESULTS: We found that the HMU locus maps to chromosomal region 8p21 in a 13.01-cM interval between markers D8S1145 and D8S1771. This interval harbours the hairless gene (HR). Mutational analysis of HR on the genomic and transcript levels revealed no pathogenic mutation. CONCLUSIONS: Our findings, together with a recent report of two unrelated families of Dutch and British origin, provide evidence for a hair growth regulatory gene distinct from HR in chromosomal region 8p21.
Authors: Yaran Wen; Yang Liu; Yiming Xu; Yiwei Zhao; Rui Hua; Kaibo Wang; Miao Sun; Yuanhong Li; Sen Yang; Xue-Jun Zhang; Roland Kruse; Sven Cichon; Regina C Betz; Markus M Nöthen; Maurice A M van Steensel; Michel van Geel; Peter M Steijlen; Daniel Hohl; Marcel Huber; Giles S Dunnill; Cameron Kennedy; Andrew Messenger; Colin S Munro; Alessandro Terrinoni; Alain Hovnanian; Christine Bodemer; Yves de Prost; Amy S Paller; Alan D Irvine; Rod Sinclair; Jack Green; Dandan Shang; Qing Liu; Yang Luo; Li Jiang; Hong-Duo Chen; Wilson H-Y Lo; W H Irwin McLean; Chun-Di He; Xue Zhang Journal: Nat Genet Date: 2009-01-04 Impact factor: 38.330