Molecular basis of a novel rhino (hr(rhChr)) phenotype: A nonsense mutation in the mouse hairless gene

Experimental Dermatology

Volumn 7, Issue 5, 1998, Pages 298-301

  Ahmad, W ^a   Panteleyev, A A ^a   Henson Apollonio, V ^b   Sundberg, J P ^c   Christiano, A M ^a  

^a The New York Presbyterian Hospital   (United States)

^b PURDUE UNIVERSITY CALUMET   (United States)

^c JACKSON LABORATORY   (United States)

Author keywords

Alopecia; Atrichia; Congenital; Hair follicle; Hairless mouse; Rhino mouse

Indexed keywords

ALOPECIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 8P; CONTROLLED STUDY; FEMALE; GENE ISOLATION; HAIR FOLLICLE; HISTOPATHOLOGY; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE;

EID: 0031732068     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1998.tb00300.x-i1     Document Type: Article

References (16)

1. Green M C. Catalog of mutant genes and polymorphic loci, In Lyon M F Searle A G, eds. Genetic Variants and Strains of the Laboratory Mouse. Oxford: Oxford University Press, 1989: 2nd edn.
2. rh) mutations, chromosome 14. In Sundberg J P, ed. Handbook of mouse mutations with skin and hair abnormalities: Animal models and biomedical tools. Boca Raton, FL: CRC Press, 1994: 291-312.
3. Panteleyev A A, van der Veen C, Rosenbach T et al. Towards defining the pathogenesis of the hairless phenotype. J Invest Dermatol 1998: 110: 902-907.
4. Panteleyev A A, Botchkareva N V, van der Veen C et al. Pathobiology of the hairless phenotype: Dysregulation of hair follicle apoptosis and topobiology during the intiation of follicle cycling. J Invest Dermatol 1998: 110: 557.
5. Ahmad W, Ul Haque M F, Brancolini V et al. Alopecia universalis associated with a mutation in the human hairless gene. Science 1998: 279: 720-724.
6. Nothen M M, Cichon S, Vogt I R et al. A gene for autosomal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 1998: 62: 386-390.
7. Ahmad W, Irvine A, Lam H M, Ahmad M, McGrath J A, Christiano A M. 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 1998 (in press).
8. Zlotogorski A, Ahmad W, Christiano A M. Congenital atrichia in five Arab Palestinian families resulting in a mutation in the human hairless gene. Hum Genet (in press).
9. Cachon-Gonzalez M B, Fenner S, Coffin J M et al. Structure and expression of the hairless gene of mice. Proc Natl Acad Sci USA 1994: 91: 7717-7721.
10. Thompson C C. Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog. J Neuroscience 1996: 16: 7832-7840.
11. Ahmad W, Panteleyev A, Sundberg J P, Christiano A M. Molecular basis for the rhino-8J phenotype: A nonsense mutation in the mouse hairless gene. Genomics 1998 (in press).
12. rhY) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene. Exp Dermatol 1998: 7: 281-288.
13. Stoye J P, Fenner S, Greenoak G E et al. Role of endogenous retoviruses as mutagens: The hairless mutation of mice. Cell 1988: 54: 383-391.
14. Cooper D N, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990: 85: 55-74.
15. Cui Y, Hagan K W, Zhang S, Peltz S W. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 1995: 9: 423-436.
16. Sambrook J, Fritsch E G, Maniatis T. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Press, 1989: 2nd edn.