| First Author | Liu XY | Year | 1999 |
| Journal | Nat Genet | Volume | 22 |
| Issue | 2 | Pages | 182-7 |
| PubMed ID | 10369263 | Mgi Jnum | J:55488 |
| Mgi Id | MGI:1338572 | Doi | 10.1038/9700 |
| Citation | Liu XY, et al. (1999) The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet 22(2):182-7 |
| abstractText | X-linked dominant disorders that are exclusively lethal prenatally in hemizygous males have been described in human and (1). None of the genes responsible has been isolated in mouse either species; The bare patches (Bpa):and striated (Str) mouse mutations were originally identified in female offspring of X-irradiated males(2) (3). Subsequently, additional independent alleles were described. We have previously mapped these X-linked dominant, male-lethal mutations to an overlapping region:of 600 kb that is homologous to human Xq28 (ref. 4) and identified several candidate genes in this: interval(5). Here we report mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase- like protein, in two independent Bpa and three independent Str alleles. Quantitative analysis of sterols from tissues of affected Bpa mice support a role for Nsdhl in cholesterol biosynthesis. Our results demonstrate that Bpa and Sfr are allelic mutations and identify the first mammalian locus associated with an X-linked dominant, male- lethal phenotype. They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism. |
