The gene mutated in bare patches and striated mice encodes a novel 3β- hydroxysteroid dehydrogenase

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 182-187

  Liu, Xiao Yu ^a   Dangel, Andrew W ^a   Kelley, Richard I ^b   Zhao, Wei ^a   Denny, Paul ^c   Botcherby, Marc ^d   Cattanach, Bruce ^c   Peters, Jo ^c   Hunsicker, Patricia R ^e   Mallon, Ann Marie ^c   Strivens, Mark A ^c   Bate, Rachael ^c   Miller, Webb ^f   Rhodes, Michael ^d   Brown, Stephen D M ^c   Herman, Gail E ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MRC Mouse Genome Centre   (United Kingdom)

^d UK Human Genome Mapping Project Resource Centre   (United Kingdom)

^e OAK RIDGE NATIONAL LABORATORY   (United States)

^f Pennsylvania State University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CHOLESTEROL;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CHROMOSOME 22Q; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STEROL ANALYSIS; X CHROMOSOME LINKAGE;

3-HYDROXYSTEROID DEHYDROGENASES; ALLELES; AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CROSSES, GENETIC; EXONS; EYE ABNORMALITIES; FEMALE; FIBROBLASTS; HUMANS; MALE; MICE; MICE, INBRED C3H; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SEX CHROMOSOME ABERRATIONS; SKIN; SKIN ABNORMALITIES; X CHROMOSOME;

EID: 0001121860     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9700     Document Type: Article

References (30)

1. Davisson, M.T. Review: X-linked genetic homologies between mouse and man. Genomics 1, 213-227 (1987).
2. Phillips, R.J.S. Striated, a new sex-linked gene in the house mouse. Genet. Res. 4, 151-153 (1963).
3. Phillips, R.J.S., Hawker, S.G. & Moseley H.J. Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. Genet. Res. 22, 91-99 (1973).
4. Angel, T. et al. Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28. Mamm. Genome 4, 171-176 (1993).
5. Levin M. L. et al. A comparative transcription map of the murine bare patches [Bpa] and striated [Str] critical regions and human Xq28. Genome Res. 6, 465-477 (1996).
6. Happle, R., Phillips, R.J.S., Roessner, A. & Junemann G. Homologous genes for X-linked chondrodysplasia punctata in man and mouse. Hum. Genet. 63, 24-27 (1983).
7. Chatterjee, A., Tanaka, T., Parrish, J.E. & Herman, G.E. Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X chromosome places the gene within the bare patches (Bpa) and striated (Str) critical regions. Mamm. Genome 6, 802-804 (1995).
8. Heiss, N.S., Rogner, U.C., Kioschis, P., Korn, B. & Poustka, A. Transcriptional mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform [hPMCA5]. Genome Res. 6, 478-491 (1996).
9. Penning, T.M. Molecular endocrinology of hydroxysteroid dehydrogenases. Endocrine Rev. 18, 281-305 (1997).
10. Payne, A.H., Abbaszade, I.G., Clarke, T.R., Bain, P.A. & Park, C.J. The multiple murine 3β-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression. Steroids 62, 169-175 (1997).
11. Kelley, R.I. et al. Abnormal sterol metabolism in patients with ConradiHunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am. J. Med. Genet. 83, 213-219 (1999).
12. Gachotte, D., Barbuch, R., Gaylor, J., Nickel, E. & Bard, M. Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis. Proc. Natl Acad. Sci. USA 95, 13794-13799 (1998).
13. Schroepfer, G.J. Sterol biosynthesis. Annu. Rev. Biochem. 51, 555-585 (1982).
14. Clayton, P.T. Disorders of cholesterol biosynthesis Arch. Dis. Child. 78, 185-189 (1998).
15. Farese, R.V. & Herz, J. Cholesterol metabolism and embryogenesis. Trends Genet. 14, 115-120 (1998).
16. Tint G.S. et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med. 330, 107-113 (1994).
17. Cunniff, C., Kratz, L.E., Moser, A., Natowicz, M.R. & Kelley, R.I. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am. J. Med. Genet. 68, 263-269 (1997).
18. Kelley, R.I. RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am. J. Hum. Genet. 63, 322-326 (1998).
19. 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl Acad. Sci. USA 95, 8181-8186 (1998).
20. 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 63, 55-62 (1998).
21. Waterham, H.R. et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am. J. Hum. Genet. 63, 329-338 (1998).
22. Johnson, R.L. & Scott, M.P. New players and puzzles in the hedgehog signaling pathway. Curr. Opin. Genet. Dev. 8, 450-456 (1998).
23. Reed, V. & Boyd, Y. RFLVs in mottled dappled alleles. Nature Genet. 8, 11-12 (1994).
24. Puck, J.M., Mussbaum, R.L., Smead, D.L. & Conley, M.E. X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am. J. Hum. Genet 44, 724-730 (1989).
25. Hardison, R.C., Oeltjen, J. & Miller, W. Long/human-mouse sequence alignments reveal novel regulatory elements: a reason to sequence the mouse genome. Genome Res. 7, 959-966 (1997).
26. Ansari-Lari, M.A., Jones, S.N., Timms, K.M. & Gibbs, R.A. Improved ligation-anchored PCR strategy for identification of 5′ ends of transcripts. BioTechniques 21, 34-38 (1996).
27. Kelley, R.I. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin. Chim. Acta 236, 45-58 (1995).
28. Gibson, K.M. et al. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. J. Lipid Res. 31, 515-521 (1990).
29. Antonarakis, S.E. et al. Update on nomenclature for human gene mutations. Hum. Muta 8, 1-6 (1996).
30. Bjorkhem, I. et al. Correlation between serum levels of some cholesterol precursors and activity of HMG-CoA reductase in human liver J. Lipid Res. 28, 1137-1143 (1987).