Lipoma : HMGA2-LPP Fusion
Image Description
Molecular Genetics of Lipomas: Lipomas frequently harbor chromosomal rearrangements of 12q13-15 region that target the high mobility group AT-hook 2 (HMGA2) gene. The most common fusion partner is lipoma preferred partner gene (LPP) on chromosome band 3q27-28, corresponding to the translocation t(3;12)(q27-28;q13-15). The rearrangement results in the formation of a chimeric transcript HMGA2-LPP. At least seven other fusion partners of HMGA2 have been identified.
The fusion protein consists of the AT-hook domains encoded by exons 1-3 of HMGA2 and parts from another gene, a truncated HMGA2 lacking the acidic C-terminus, or a full-length protein. The loss of binding sites for regulatory microRNA molecules from the 3' untranslated region of HMGA2 is considered to be a common denominator. The end result is deregulation of HMGA2.
Image Source: Marleen M Petit; Lipoma Preferred Partner Gene; Atlas Genet Cytogenet Oncol Haematol. 2004-05-01; Image used under: Creative Commons Attribution-NonCommercial No Derivative Works 2.0 France License.
The fusion protein consists of the AT-hook domains encoded by exons 1-3 of HMGA2 and parts from another gene, a truncated HMGA2 lacking the acidic C-terminus, or a full-length protein. The loss of binding sites for regulatory microRNA molecules from the 3' untranslated region of HMGA2 is considered to be a common denominator. The end result is deregulation of HMGA2.
Image Source: Marleen M Petit; Lipoma Preferred Partner Gene; Atlas Genet Cytogenet Oncol Haematol. 2004-05-01; Image used under: Creative Commons Attribution-NonCommercial No Derivative Works 2.0 France License.