Table 1 |
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Functional characterization of non-coding elements significantly conserved only in primates |
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In vitro (HepG2) |
In vivo (mice) |
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Primate specific element |
DNase I HS |
Reporter transfection |
Gene transfer |
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|
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LDLR_PS1 |
No |
No activity |
No activity |
|
LDLR_PS2 |
Yes |
Enhancer* (~5.1-fold) |
Enhancer (~5.5-fold) |
|
LDLR_PS3 |
No |
No activity |
No activity |
|
LDLR_PS4 |
Yes |
Enhancer (~3.7-fold) |
Enhancer (~4.2-fold) |
|
SREBF1_PS |
No |
Silencer (~2.4-fold) |
Silencer (~1.8-fold) |
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CYP7A1_PS |
No |
No activity |
No activity |
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*In 293T cells. Human elements with primate-specific conservation were tested for their ability to drive reporter gene expression in vitro in HepG2 cells and in vivo in mouse liver. The genomic regions containing primate-conserved elements were also examined for the presence of DNase I hypersensitive sites (DNase I HS) in HepG2 cells. Enhancer or silencer strength is shown as fold increase or decrease relative to the promoter alone in luciferase assays. |
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Wang et al. Genome Biology 2007 8:R1 doi:10.1186/gb-2007-8-1-r1 |
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