A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish Travellers

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 984-991

  Ahmad, Wasim ^a   Irvine, Alan D ^b   Lam, HaMut ^a   Buckley, Colin ^c   Ann Bingham, E ^b   Panteleyev, Andrei A ^a   Ahmad, Mahmud ^d   McGrath, John A ^e   Christiano, Angela M ^a,f  

^a Columbia University ^*  (United States)

^b ROYAL VICTORIA HOSPITAL   (United Kingdom)

^c WATERFORD REGIONAL HOSPITAL   (Ireland)

^d QUAID I AZAM UNIVERSITY   (Pakistan)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f The New York Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ZINC FINGER PROTEIN;

ALOPECIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC CONSERVATION; HAIR FOLLICLE; HUMAN; IRELAND; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; TRAVEL;

EID: 0032231885     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302069     Document Type: Article

References (29)

1. Ahmad M, Abbas H, ul Haque S (1993) Alopecia universalis as a single abnormality in an inbred Pakistani kindred. Am J Med Genet 46:369-371
2. Ahmad W, Panteleyev AA, Henson-Apollonio V, Sundberg JP, Christiano AM. Molecular basis for a novel rhino phenotype: a nonsense mutation in the mouse hairless gene (in press-a)
3. Ahmad W, Panteleyev A, Sundberg JP, Christiano AM. Molecular basis for the rhino-8J phenotype: a nonsense mutation in the mouse hairless gene (in press-b)
4. Ahmad W, Ul Haque MF, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, et al (1998) Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720-724
5. Cachon-Gonzalez MB, Fenner S, Coffin JM, Moran C, Best S, Stoye JP (1994) Structure and expression of the hairless gene of mice. Proc Natl Acad Sci USA 91:7717-7721
6. Cantu JM, Sanchez-Corona J, Gonzalez-Mendoza A, Martinez Y, Martinez R, Garcia-Cruz D (1980) Autosomal recessive inheritance of atrichia congenita. Clin Genet 17:209-212
7. Cotsarelis G, Sun T-T, Lavker RM (1990) Label retaining cells reside in the bulge area of pilosebaceous unit: implications for follicular stem cells, hair cycle, and skin carcinogenesis. Cell 61:1329-1337
8. Damste J, Prakken JR (1954) Atrichia with papular lesions: a variant of congenital ectodermal dysplasias. Dermatologica 108:114-117
9. Del Castillo V, Ruiz-Maldonado R, Carnevale A (1974) Atrichia with papular lesions and mental retardation in two sisters. Int J Dermatol 13:261-265
10. Fiynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM (1989) Type II hyperprolinaemia in a pedigree of Irish Travellers (nomads). Arch Dis Child 64:1699-1707
11. Fredrich HC (1950) Zur Kenntnis der kongenitale Hypotrichosis. Dermatol Wochenschr 121:408-410
12. Gmelch G, Gmdch SB (1977) Ireland's travelling people: a comprehensive bibliography. J Gypsy Lore Soc (4th ser)1: 159-169
13. Hardy M (1992) The secret life of the hair follicle. Trends Genet 8:55-61
14. Holknberg SM, Giguere V, Segui P, Evans RM (1987) Colocalization of DNA-binding and transcriptional activation functions in the human glucocorticoid receptor. Cell 49:39-46
15. Johnston M, Dover J (1987) Mutations that inactivate a yeast transcriprional regulatory protein cluster in an evolutioflarily conserved DNA binding domain. Proc Natl Acad Sci USA 84:2401-2405
16. Kanzler MH, Rasmussen JE (1986) Atrichia with papular lesions. Arch Dermatol 122:565-567
17. Landes E, Langer I (1956) Ein Beitrag zur Hypotrichosis congenita. Hautzart 7:413-415
18. Lowenthal LJA, Prakken JR (1961) Atrichia with papular lesions. Dermatologica 122:85-87
19. Misciali C, Tosti A, Fanti PA, Borrello P, Piraccini BM (1992) Atrichia and papular lesions: report of a case. Dermatologica 185:284-288
20. Nöthen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Höller T, et al (1998) A gene for autosomal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 62:386-390
21. rhY) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene (in press-a)
22. Panteleyev AA, Paus R, Ahmad W, Sundberg JP, Christiano AM. Molecular and functional aspects of the hairless gene in laboratory rodents and humans (in press-6)
23. Panteleyev AA, van der Veen C, Rosenbach T, Muller-Rover S, Sokolov VE, Paus R (1998) Towards defining the pathogenesis of the hairless phenotype. J Invest Dermatol 110:902-907
24. Rochat A, Kobayashi K, Barrandon Y (1994) Location of stem cells in human hair follicles by clonal analysis. Cell 76:1063-1073
25. Rook A, Dawber R (1991) Diseases of the hair and scalp, 2d ed. Blackwell, Oxford, pp 187-197
26. Sambrook J, Fritsch EG, Maniatis T (1989) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
27. Sundberg JP, Dunstan RW, Compton JG (1989) Hairless mouse, HRS/J hr/hr. In: Jones TC, Mohr U, Hunt RD (eds) Monographs on pathology of laboratory animals: integument and mammary glands. Springer-Verlag, Heidelberg, pp 192-197
28. Thompson CC (1996) Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog. J Neurosci 16:7832-7840
29. Thompson CC, Bottcher MC (1997) The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors. Proc Natl Acad Sci USA 94:8527-8532