Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia
- 8 May 2001
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 98 (10), 5776-5779
- https://doi.org/10.1073/pnas.101001498
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.Keywords
This publication has 34 references indexed in Scilit:
- Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study groupLeukemia, 2000
- The RRM Domain of MINT, a Novel Msx2 Binding Protein, Recognizes and Regulates the Rat Osteocalcin PromoterBiochemistry, 1999
- THE CRITICAL ROLE OF CHROMOSOME TRANSLOCATIONS IN HUMAN LEUKEMIASAnnual Review of Genetics, 1998
- Extra specificity from extradenticle: the partnership between HOX and PBX/EXD homeodomain proteinsTrends in Genetics, 1996
- Altered Hox expression and segmental identity in Mll-mutant miceNature, 1995
- Chromosomal translocations in human cancerNature, 1994
- Conserved Structures and Diversity of Functions of RNA-Binding ProteinsScience, 1994
- In situ hybridization to interphase nuclei in acute leukemiaGenes, Chromosomes and Cancer, 1993
- A gene trap approach in mouse embryonic stem cells: the lacZ reported is activated by splicing, reflects endogenous gene expression, and is mutagenic in mice.Genes & Development, 1992
- Nonrandom t(1;22)(p12–p13;q13) in acute megakaryocytic malignant proliferationCancer Genetics and Cytogenetics, 1991