TY - JOUR
T1 - Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia
AU - Mercher, Thomas
AU - Coniat, Maryvonne Busson Le
AU - Monni, Richard
AU - Mauchauffé, Martine
AU - Khac, Florence Nguyen
AU - Gressin, Lætitia
AU - Mugneret, Francine
AU - Leblanc, Thierry
AU - Dastugue, Nicole
AU - Berger, Roland
AU - Bernard, Olivier A.
PY - 2001/5/8
Y1 - 2001/5/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=14344280044&partnerID=8YFLogxK
U2 - 10.1073/pnas.101001498
DO - 10.1073/pnas.101001498
M3 - Article
C2 - 11344311
AN - SCOPUS:14344280044
SN - 0027-8424
VL - 98
SP - 5776
EP - 5779
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 10
ER -