PMID- 10391218
OWN - NLM
STAT- MEDLINE
DCOM- 19990719
LR  - 20101118
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 3
DP  - 1999 Jul
TI  - Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and
      X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
PG  - 286-90
AB  - Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with
      prenatal male lethality. Heterozygous females are small and at 4-5 days of age
      develop patches of hyperkeratotic skin where no hair grows, resulting in a
      striping of the coat in adults. Craniofacial anomalies and twisted toes have also
      been observed in some affected females. A potential second allele of Td has also 
      been described. The phenotype of Td is similar to that seen in heterozygous
      females with human X-linked dominant chondrodysplasia punctata (CDPX2,
      alternatively known as X-linked dominant Conradi-Hunermann-Happle syndrome) as
      well as another X-linked, semi-dominant mouse mutation, bare patches (Bpa). The
      Bpa gene has recently been identified and encodes a protein with homology to
      3beta-hydroxysteroid dehydrogenases that functions in one of the later steps of
      cholesterol biosynthesis. CDPX2 patients display skin defects including linear or
      whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse
      lusterless hair and alopecia, cataracts and skeletal abnormalities including
      short stature, rhizomelic shortening of the limbs, epiphyseal stippling and
      craniofacial defects (MIM 302960). We have now identified the defect in Td mice
      as a single amino acid substitution in the delta8-delta7 sterol isomerase
      emopamil binding protein (Ebp; encoded by Ebp in mouse) and identified
      alterations in human EBP in seven unrelated CDPX2 patients.
FAU - Derry, J M
AU  - Derry JM
AD  - Immunex Corporation, Seattle, Washington 98101-2936, USA. jderry@immunex.com
FAU - Gormally, E
AU  - Gormally E
FAU - Means, G D
AU  - Means GD
FAU - Zhao, W
AU  - Zhao W
FAU - Meindl, A
AU  - Meindl A
FAU - Kelley, R I
AU  - Kelley RI
FAU - Boyd, Y
AU  - Boyd Y
FAU - Herman, G E
AU  - Herman GE
LA  - eng
SI  - GENBANK/X97755
SI  - GENBANK/Z37986
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  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - EC 5.3.3.- (Ebp protein, mouse)
RN  - EC 5.3.3.- (Steroid Isomerases)
RN  - EC 5.3.3.- (delta(8)-delta(7)-sterol isomerase)
RN  - EC 5.3.3.5 (EBP protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Carrier Proteins/chemistry/genetics
MH  - Chondrodysplasia Punctata/*enzymology/*genetics
MH  - DNA Primers/genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Linkage
MH  - Guinea Pigs
MH  - Humans
MH  - Male
MH  - Mice
MH  - Mice, Mutant Strains
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Phenotype
MH  - Pregnancy
MH  - Sequence Homology, Amino Acid
MH  - Steroid Isomerases/chemistry/*genetics
MH  - X Chromosome/*genetics
EDAT- 1999/07/03 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/07/03 10:00
PHST- 1999/07/03 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/07/03 10:00 [entrez]
AID - 10.1038/10350 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jul;22(3):286-90. doi: 10.1038/10350.