Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene

Human Genetics

Volumn 103, Issue 4, 1998, Pages 400-404

  Zlotogorski, Abraham ^a   Ahmad, Wasim ^b   Christiano, Angela M ^b,c  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 8P; CLINICAL ARTICLE; DELETION MUTANT; EXON; FEMALE; FRAMESHIFT MUTATION; GENETIC LINKAGE; HAIR LOSS; HUMAN; INFANT; MALE; MISSENSE MUTATION; NORMAL HUMAN; PALESTINE; PRIORITY JOURNAL;

ALOPECIA; ANIMALS; ARABS; FEMALE; HUMANS; MALE; MICE; PEDIGREE; PROTEINS; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0031723522     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050840     Document Type: Article

References (30)

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, Ul Haque MF, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, Owen J, Blaquiere M de, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiane AM (1998a) Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720-724
3. Ahmad W, Irvine A, Lam HM, Ahmad M, McGrath JA, Christiano AM (1998b) A missense mutation in the zinc-finger domain of the human hairless gene underlies generalized atrichia in a family of Irish travellers. Am J Hum Genet (in press)
4. Ahmad W, Panteleyev A, Sundberg JP, Christiano AM (1998c) Molecular basis for the rhino-8 J phenotype: a nonsense mutation in the mouse hairless gene. Genomics (in press)
5. Ahmad W, Panteleyev AA, Henson-Apollonio V, Sundberg JP, Christiano, AM (1998d) Molecular basis for a novel rhino phenotype: a nonsense mutation in the mouse hairless gene. Exp Dermatol (in press)
6. Birke G (1954) Über Atrichia congenita und ihren Erbgang. Arch Dermatol Syphil 197:322-343
7. 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
8. 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
9. Costarelis 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
10. Damste J, Prakken JR (1954) Atrichia with papular lesions: a variant of congenital ectodermal dysplasias. Dermatologica 108:114-117
11. Del Castillo V, Ruiz-Maldonado R, Carnevale A (1974) Atrichia with papular lesions and mental retardation in two sisters. Int J Dermatoll 3:261-265
12. Fredrich HC (1950) Zur Kenntnis der kongenitale Hypotrichosis. Dermatol Wochenschr 121:408-410
13. Hardy M (1992) The secret life of the hair follicle. Trends Genet 8:55-61
14. Kanzler MH, Rasmussen JE (1986) Atrichia with papular lesions. Arch Dermatol 122:565-567
15. Landes E, Langer I (1956) Ein Beitrag zur Hypotrichosis congenita. Hautarzt 7:413-415
16. Lowenthal LJA, Prakken JR (1961) Atrichia with papular lesions. Dermatologica 122:85-87
17. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
18. Misciali C, Tosti A, Fanti PA, Borrello P, Piraccini BM (1992) Atrichia and papular lesions: report of a case. Dermatologica 185:284-288
19. Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Holler T, Ul Haque MF, Ul Haque S, Propping P, Ahmad M, Rietschel M (1998) A gene for autosomal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 62:386-390
20. Panteleyev AA, Veen C van der, Rosenbach T, Muller-Rover S, Sokolov VE, Paus R (1998a) Towards defining the pathogenesis of the hairless phenotype. J Invest Dermatol 110:903-907
21. Panteleyev AA, Botchkareva NV, Veen C van der, Christiane AM, Paus R (1998b) Pathobiology of the the hairless phenotype: dysregulation of hair follicle apoptosis and topobiology during the initiation of follicle cycling. J Invest Dermatol 110:577
22. rhY) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene. Exp Dermatol (in press)
23. Porter PS (1973) Genetic disorders of hair growth. J Invest Dermatol 60:493-502
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, 2nd edn. Blackwell, Oxford, pp 187-197
26. Sambrook J, Fritsch EG, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. 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, Berlin Heidelberg New York, 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
30. Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA (1989) Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880