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Publication : Point-activated ESR1<sup>Y541S</sup> has a dramatic effect on the development of sexually dimorphic organs.

First Author  Simond AM Year  2020
Journal  Genes Dev Volume  34
Issue  19-20 Pages  1304-1309
PubMed ID  32912899 Mgi Jnum  J:303707
Mgi Id  MGI:6515849 Doi  10.1101/gad.339424.120
Citation  Simond AM, et al. (2020) Point-activated ESR1(Y541S) has a dramatic effect on the development of sexually dimorphic organs. Genes Dev 34(19-20):1304-1309
abstractText  Mutations in the estrogen receptor alpha (ERalpha) occur in endocrine-resistant metastatic breast cancer. However, a major gap persists with the lack of genetically tractable immune competent mouse models to study disease. Hence, we developed a Cre-inducible murine model expressing a point-activated ESR1(Y541S) (ESR1(Y537S) in humans) driven by its endogenous promoter. Germline expression of mutant ESR1(Y541S) reveals dramatic developmental defects in the reproductive organs, mammary glands, and bones of the mice. These observations provide critical insights into the tissue-specific roles of ERalpha during development and highlights the potential use of our model in further developmental and cancer studies.
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