Article
Identification of functional DNA variants in the constitutive promoter region of MDM2.
Human genomics - 1 Sept 2012
Lalonde Marie-Eve, Ouimet Manon, Larivière Mathieu, Kritikou Ekaterini A, Sinnett Daniel
Abstract excerpt
Although mutations in the oncoprotein murine double minute 2 (MDM2) are rare, MDM2 gene overexpression has been observed in several human tumors. Given that even modest changes in MDM2 levels might influence the p53 tumor suppressor signaling pathway, we postulated that sequence variation in the promoter region of MDM2 could lead to disregulated expression and variation in gene dosage. Two promoters have been...
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