1  (APOB), and cholesterol 7alpha-hydroxylase (CYP7).

2 d polymorphisms in the 5' flanking region of CYP7.

3                An anomalous oily coat in the Cyp7-/- animals is due to the presence of excess monogly

4  are detected in the bile and stool of adult Cyp7-/- animals.

5                          Homozygous animals (Cyp7-/-) appeared normal at birth, but died within the f

6 kage between plasma LDL-C concentrations and CYP7, but not LDLR or APOB.

7 these findings indicate that polymorphism in CYP7 contributes to heritable variation in plasma LDL-C

8 or high level promoter activity of the human CYP7 gene in HepG2 cells.

9 onsible for basal transcription of the human CYP7 gene in HepG2 cells.

10 c DNA sequences in the promoter of the human CYP7 gene, we first examined the DNase I hypersensitivit

11 re constructed by targeted disruption of the Cyp7 gene.

12 oncentrations as probands indicated that the CYP7 locus was linked to high plasma LDL-C, but not to l

13 content is significantly elevated in newborn Cyp7-/- mice and gradually declines to wild-type levels

14           Aspects of lipid metabolism in the Cyp7-/- mice are characterized here to deduce the physio

15                                      Newborn Cyp7-/- mice whose mothers were maintained on unsuppleme

16 deficient in cholesterol 7alpha-hydroxylase (Cyp7-/- mice) exhibit a complex phenotype consisting of

17  are indistinguishable between wild-type and Cyp7-/- mice.

18 o the segment from -148 to -127 of the human CYP7 promoter.

19 Heterozygous carriers of the disrupted gene (Cyp7+/-) were phenotypically normal.