Enhancer Elements, Genetic

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BACKGROUND: Human atherosclerotic lesions contain elevated levels of urokinase plasminogen activator (uPA), expressed predominantly by macrophages. METHODS AND RESULTS: To test the hypothesis that macrophage-expressed uPA contributes to the progression and complications of atherosclerosis, we generated transgenic mice with macrophage-targeted overexpression of uPA. The uPA transgene was bred into the apolipoprotein E-null background, and transgenic mice and nontransgenic littermate controls were fed an atherogenic diet.

Cozen, Aaron E.
Moriwaki, Hideaki
Kremen, Michal
DeYoung, Mary Beth
Dichek, HelÈn L.
Slezicki, Katherine I.
Young, Stephen G.
VÈniant, Murielle
Dichek, David A.
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A novel genetic scheme was used to isolate mutants altered in the formation or maintenance of amplified rDNA in the Tetrahymena macronucleus. One such mutant had a cis-acting rDNA mutation that affected the ability of mutant rDNA molecules to replicate in macronuclei in the presence of a wild-type (B strain) rDNA. The mutant rDNA was lost from these heterozygous macronuclei during vegetative cell divisions, although it was maintained normally in the homozygous or hemizygous state.

Larson, D. D.
Blackburn, E. H.
Yaeger, P. C.
Orias, E.
Publication Title: 
Journal of Human Genetics

Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present study, we identified two HERV loci that are expected to retain the transcriptional activity in the brain. One was located on chromosome 1q21-q22 and the other on 22q12.

Nakamura, Akifumi
Okazaki, Yuji
Sugimoto, Jun
Oda, Takaya
Jinno, Yoshihiro
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Aging is arguably the most familiar yet least-well understood aspect of human biology. The role of epigenetics in aging and age-related diseases has gained interest given recent advances in the understanding of how epigenetic mechanisms mediate the interactions between the environment and the genetic blueprint. While current concepts generally view global deteriorations of epigenetic marks to insidiously impair cellular and molecular functions, an active role for epigenetic changes in aging has so far received little attention.

Murgatroyd, Chris
Wu, Yonghe
Bockm¸hl, Yvonne
Spengler, Dietmar
Publication Title: 
Molecular Endocrinology (Baltimore, Md.)

The estrogen receptor α (ERα) is a master regulator of gene expression and works along with cooperating transcription factors in mediating the actions of the hormone estradiol (E2) in ER-positive tissues and breast tumors. Here, we report that expression of paired-like homeodomain transcription factor (PITX1), a tumor suppressor and member of the homeobox family of transcription factors, is robustly up-regulated by E2 in several ERα-positive breast cancer cell lines via ERα-dependent interaction between the proximal promoter and an enhancer region 5' upstream of the PITX1 gene.

Stender, Joshua D.
Stossi, Fabio
Funk, Cory C.
Charn, Tze Howe
Barnett, Daniel H.
Katzenellenbogen, Benita S.
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