PMID- 10369263
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20200318
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Jun
TI  - The gene mutated in bare patches and striated mice encodes a novel
      3beta-hydroxysteroid dehydrogenase.
PG  - 182-7
AB  - X-linked dominant disorders that are exclusively lethal prenatally in hemizygous 
      males have been described in human and mouse. None of the genes responsible has
      been isolated in either species. The bare patches (Bpa) and striated (Str) mouse 
      mutations were originally identified in female offspring of X-irradiated males.
      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. 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 Str 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.
FAU - Liu, X Y
AU  - Liu XY
AD  - Children's Hospital Research Foundation and Department of Pediatrics, The Ohio
      State University, Columbus 43205, USA.
FAU - Dangel, A W
AU  - Dangel AW
FAU - Kelley, R I
AU  - Kelley RI
FAU - Zhao, W
AU  - Zhao W
FAU - Denny, P
AU  - Denny P
FAU - Botcherby, M
AU  - Botcherby M
FAU - Cattanach, B
AU  - Cattanach B
FAU - Peters, J
AU  - Peters J
FAU - Hunsicker, P R
AU  - Hunsicker PR
FAU - Mallon, A M
AU  - Mallon AM
FAU - Strivens, M A
AU  - Strivens MA
FAU - Bate, R
AU  - Bate R
FAU - Miller, W
AU  - Miller W
FAU - Rhodes, M
AU  - Rhodes M
FAU - Brown, S D
AU  - Brown SD
FAU - Herman, G E
AU  - Herman GE
LA  - eng
SI  - GENBANK/AF100198
GR  - MC_U142684171/MRC_/Medical Research Council/United Kingdom
GR  - R01 LM05110/LM/NLM NIH HHS/United States
GR  - R01 NS34953/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - EC 1.1.- (3-Hydroxysteroid Dehydrogenases)
RN  - EC 1.1.- (Nsdhl protein, mouse)
SB  - IM
MH  - 3-Hydroxysteroid Dehydrogenases/chemistry/*genetics
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Animals
MH  - Chromosome Mapping
MH  - Crosses, Genetic
MH  - Exons
MH  - Eye Abnormalities/enzymology/genetics
MH  - Female
MH  - Fibroblasts/metabolism
MH  - Humans
MH  - Male
MH  - Mice
MH  - Mice, Inbred C3H
MH  - Mice, Mutant Strains
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Point Mutation
MH  - Sequence Alignment
MH  - Sequence Deletion
MH  - Sequence Homology, Amino Acid
MH  - *Sex Chromosome Aberrations
MH  - Skin/metabolism
MH  - Skin Abnormalities/enzymology/genetics
MH  - *X Chromosome
EDAT- 1999/06/16 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/06/16 10:00
PHST- 1999/06/16 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/06/16 10:00 [entrez]
AID - 10.1038/9700 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jun;22(2):182-7. doi: 10.1038/9700.