Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia

被引：181

作者：

Mercher, T

Busson-Le Coniat, M

Monni, R

Mauchauffé, M

Khac, FN

Gressin, L

Mugneret, F

Leblanc, T

Dastugue, N

Berger, R

Bernard, OA

机构：

[1] INSERM, Ctr Edude Polymorphisme Humaine Paris, U434, F-75010 Paris, France

[2] CEPH, F-75010 Paris, France

[3] Lab Cytogenet, F-21034 Dijon, France

[4] Hop Purpan, Hematol Lab, F-31059 Toulouse, France

[5] Hop St Louis, Unite Hematol Pediat, F-75475 Paris 10, France

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2001年 / 98卷 / 10期

关键词：

D O I：

10.1073/pnas.101001498

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：5776 / 5779

页数：4

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