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. 2014 Oct;99(10):e176-8.
doi: 10.3324/haematol.2014.104406. Epub 2014 Jul 4.

ETV6 mutation in a cohort of 970 patients with hematologic malignancies

Qinrong Wang  1 , Shasha Dong  1 , Hong Yao  1 , Lijun Wen  1 , Huiying Qiu  1 , Llili Qin  1 , Liang Ma  1 , Suning Chen  2
Affiliations

ETV6 mutation in a cohort of 970 patients with hematologic malignancies

Qinrong Wang et al. Haematologica. 2014 Oct.
No abstract available

Keywords: ETV6; hematologic malignancies; mutations.

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Figures

Figure 1.
Figure 1.
(A). Distribution of somatic sequence mutations in ETV6. Two conserved domains in ETV6 are shown: the PNT domain at its amino terminus which mediates homotypic oligomerization of ETV6 molecules and also heterotypic interaction with other protein and the DNA-binding ETS domain at amino terminus which mediates protein-protein interactions. In red color mutations were somatic mutation and all the mutations have not been reported previously. (B) ETV6 mutations in SAM domain. The structure of a heterodimer with an interface is illustrated by native interface of the SAM domain polymer of TEL. The main residuals from salt-bridges are shown in yellow. The mutation loci discovered in the SAM domain and its relation with the interface of heterodimer are labeled in red. (C). ETV6 mutations in ETS domain. ETS domain (334–437) 3D model of Tel dimmer DNA complex and the mutation residuals also were labeled.
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References

    1. Golub TR, Barker GF, Stegmaier K, Gilliland DG. The TEL gene contributes to the pathogenesis of myeloid and lymphoid leukemias by diverse molecular genetic mechanisms. Curr Top Microbiol Immunol. 1997;220:67–79 - PubMed
    1. Lopez RG, Carron C, Oury C, Gardellin P, Bernard O, Ghysdael J. TEL is a sequence-specific transcriptional repressor. J Biol Chem. 1999;274(42):30132–8 - PubMed
    1. Bohlander SK. ETV6: a versatile player in leukemogenesis. Semin Cancer Biol. 2005;15(3):162–74 - PubMed
    1. Hock H, Meade E, Medeiros S, Schindler JW, Valk PJ, Fujiwara Y, et al. Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. Genes Dev. 2004;18(19):2336–41 - PMC - PubMed
    1. Attarbaschi A, Mann G, Strehl S, Konig M, Steiner M, Jeitler V, et al. Deletion of 11q23 is a highly specific nonrandom secondary genetic abnormality of ETV6/RUNX1-rearranged childhood acute lymphoblastic leukemia. Leukemia. 2007;21(3):584–6 - PubMed

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