A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3

被引：35

作者：

Betz, RC

Lee, YA

Bygum, A

Brandrup, F

Bernal, AI

Toribio, J

Alvarez, JI

Kukuk, GM

Ibsen, HHW

Rasmussen, HB

Wienker, TF

Reis, A

Propping, P

Kruse, R

Cichon, S

Nöthen, MM

机构：

[1] Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany

[2] Univ Bonn, Inst Med Biometry Informat & Epidemiol, D-53111 Bonn, Germany

[3] Max Delbruck Ctr Mol Med, Gene Mapping Ctr, Berlin, Germany

[4] Humboldt Univ, Dept Pediat Pneumol & Immunol, Berlin, Germany

[5] Humboldt Univ, Inst Human Genet, Berlin, Germany

[6] Odense Univ Hosp, Dept Dermatol, DK-5000 Odense, Denmark

[7] Univ Santiago de Compostela, Dept Dermatol, Santiago De Compostela, Spain

[8] Cruz Roja Valladolid, Valladolid, Spain

[9] Univ Dusseldorf, Dept Dermatol, D-4000 Dusseldorf, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 66卷 / 06期

关键词：

D O I：

10.1086/302934

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3, This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker DGS1701 in all families, The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.

引用

页码：1979 / 1983

页数：5

共 17 条

[1] Alopecia universalis associated with a mutation in the human hairless gene [J].

Ahmad, W ;

Haque, WFU ;

Brancolini, V ;

Tsou, HC ;

Haque, SU ;

Lam, H ;

Aita, VM ;

Owen, J ;

deBlaquiere, M ;

Frank, J ;

Cserhalmi-Friedman, PB ;

Leask, A ;

McGrath, JA ;

Peacocke, M ;

Ahmad, M ;

Ott, J ;

Christiano, AM .

SCIENCE, 1998, 279 (5351) :720-724

[2] Complete sequence and gene map of a human major histocompatibility complex [J].

Beck, S ;

Geraghty, D ;

Inoko, H ;

Rowen, L ;

Aguado, B ;

Bahram, S ;

Campbell, RD ;

Forbes, SA ;

Guillaudeux, T ;

Hood, L ;

Horton, R ;

Janer, M ;

Jasoni, C ;

Madan, A ;

Milne, S ;

Neville, M ;

Oka, A ;

Qin, S ;

Ribas-Despuig, G ;

Rogers, J ;

Shiina, T ;

Spies, T ;

Tamiya, G ;

Tashiro, H ;

Trowsdale, J ;

Vu, Q ;

Williams, L ;

Yamazaki, M .

NATURE, 1999, 401 (6756) :921-923

[3] Comprehensive human genetic maps: Individual and sex-specific variation in recombination [J].

Broman, KW ;

Murray, JC ;

Sheffield, VC ;

White, RL ;

Weber, JL .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :861-869

[4] Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia [J].

Cichon, S ;

Anker, M ;

Vogt, IR ;

Rohleder, H ;

Pützstück, M ;

Hillmer, A ;

Farooq, SA ;

Al-Dhafri, KS ;

Ahmad, M ;

Haque, S ;

Rietschel, M ;

Propping, P ;

Kruse, R ;

Nöthen, MM .

HUMAN MOLECULAR GENETICS, 1998, 7 (11) :1671-1679

[5] The genetic basis of alopecia areata:: HLA associations with patchy alopecia areata versus alopecia totalis and alopecia universalis [J].

Colombe, BW ;

Lou, CD ;

Price, VH .

JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS, 1999, 4 (03) :216-219

[6] Alopecia areata in families: Association with the HLA locus [J].

de Andrade, M ;

Jackow, CM ;

Dahm, N ;

Hordinsky, M ;

Reveille, JD ;

Duvic, M .

JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS, 1999, 4 (03) :220-223

[7]

DIAZ ER, 1995, DERMATOLOGY, V191, P139

[8] Exposing the human nude phenotype [J].

Frank, J ;

Pignata, C ;

Panteleyev, AA ;

Prowse, DM ;

Baden, H ;

Weiner, L ;

Gaetaniello, L ;

Ahmad, W ;

Pozzi, N ;

Cserhalmi-Friedman, PB ;

Aita, VM ;

Uyttendaele, H ;

Gordon, D ;

Ott, J ;

Brissette, JL ;

Christiano, AM .

NATURE, 1999, 398 (6727) :473-474

[9] TUMOR-NECROSIS-FACTOR LIGAND SUPERFAMILY - INVOLVEMENT IN THE PATHOLOGY OF MALIGNANT-LYMPHOMAS [J].

GRUSS, HJ ;

DOWER, SK .

BLOOD, 1995, 85 (12) :3378-3404

[10] Involvement of a novel Tnf receptor homologue in hair follicle induction [J].

Headon, DJ ;

Overbeek, PA .

NATURE GENETICS, 1999, 22 (04) :370-374

← 1 2 →