Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 11344311.
- Also identified by PMC identifier 33289.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
The recurrent t(1;22)(p13;q13) translocation is exclusively associated with infant acute megakaryoblastic leukemia. We have identified the two genes involved in this translocation. Both genes possess related sequences in the Drosophila genome. The chromosome 22 gene (megakaryocytic acute leukemia, MAL) product is predicted to be involved in chromatin organization, and the chromosome 1 gene (one twenty-two, OTT) product is related to the Drosophila split-end (spen) family of proteins. Drosophila genetic experiments identified spen as involved in connecting the Raf and Hox pathways. Because almost all of the sequences and all of the identified domains of both OTT and MAL proteins are included in the predicted fusion protein, the OTT-MAL fusion could aberrantly modulate chromatin organization, Hox differentiation pathways, or extracellular signaling.
Medical subject headings
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 22
- Drosophila
- Drosophila Proteins
- Homeodomain Proteins
- Leukemia, Megakaryoblastic, Acute
- Nuclear Proteins
- Proteins
- RNA-Binding Proteins
- Translocation, Genetic