Myeloid/Lymphoid Leukemia Translocated To 11 (MLLT11), also known as AF1Q, is a gene located on chromosome 1q21.3. It is involved in the regulation of hematopoietic progenitor cells and plays a significant role in leukemogenesis when translocated with the MLL gene on chromosome 11q23 . This gene is classified as a transcription factor cofactor and is implicated in various forms of leukemia, including acute myelomonocytic leukemia .
MLLT11 encodes a protein that is highly expressed in the thymus but not in peripheral lymphoid tissues . It is involved in the regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate . The protein encoded by MLLT11 is also associated with the positive regulation of apoptotic processes, mitochondrial depolarization, and the release of cytochrome c from mitochondria .
The MLLT11 gene product acts as a cofactor for the transcription factor TCF7, which is crucial for the regulation of gene expression during lymphoid development . The translocation of MLLT11 with the MLL gene results in the formation of fusion proteins that disrupt normal gene regulation and contribute to leukemogenesis . These fusion proteins are often associated with poor prognosis in leukemia patients .
The expression of MLLT11 is tightly regulated in normal hematopoietic tissues but is aberrantly expressed in leukemic cell lines . The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23 . The regulatory mechanisms involve complex interactions between the MLLT11 gene product and other transcription factors, which ultimately influence cell fate decisions and apoptotic processes .
The translocation of MLLT11 with the MLL gene is a significant event in the pathogenesis of various leukemias, particularly acute myelomonocytic leukemia . Understanding the molecular mechanisms underlying this translocation can provide insights into potential therapeutic targets for leukemia treatment. The aberrant expression of MLLT11 in leukemic cells makes it a potential biomarker for diagnosis and prognosis .