Molecular consequences of chromosomal rearrangements that modify the AML1/CBFβ transcription factor complex, the most frequent target of reciprocal translocations.

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Molecular consequences of chromosomal rearrangements that modify the AML1/CBFβ transcription factor complex, the most frequent target of reciprocal translocations in the human leukemias. In the majority of cases, the structural alteration disrupts the AML1 DNA-binding partner of this complex but not CBFβ, whereas in cases with the inv(16), only the latter protein is affected. The lack of lineage specificity for genetic lesions involving AML1 can be appreciated from the very early site of action of this gene in normal hematopoiesis (see Fig. 19-1), but the molecular basis for the phenotype specificity of each fusion gene in the transformation of myeloid or lymphoid progenitors remains unknown. CML, chronic myeloid leukemia; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; ALL, acute lymphoblastic leukemia. (Adapted from Shurtleff et al.199 Used with permission). Source: Basic Concepts in Cancer Genetics, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: http://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch19fg7.png&sec=62653782&BookID=971&ChapterSecID=62632394&imagename= Accessed: October 29, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved