Download Genes Section DDX10 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 10) Atlas of Genetics and Cytogenetics

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Transcript
Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Genes Section
Short Communication
DDX10 (DEAD (Asp-Glu-Ala-Asp) box polypeptide
10)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Published in Atlas Database: January 1998
Online version is available at: http://AtlasGeneticsOncology.org/Genes/DDX10.html
DOI: 10.4267/2042/32090
This work is licensed under a Creative Commons Attribution-Non commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
Other names: HRH-J8
Location: 11q22
Local order: telomeric to ATM.
DDX10 (11q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are
welcome: contact [email protected].
Expression
DNA/RNA
Wide.
Description
Localisation
At least 12 exons; spans more than a 200 kb region.
Nucleolus (probable).
Transcription
Function
Alternative splicing; 3.2 and 5.0 kb mRNA.
Putative ATP-dependent DEAD box RNA helicase;
possible role in ribosome assembly through rRNA
processing.
Protein
Description
Homology
Contains 2 nuclear localization signals (NLS), a DEAD
box (DEAD for: ASP-GLU_ALA-ASP).
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
SPB4 and DRS1 (yeast).
3
DDX10 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 10)
Huret JL
Implicated in
References
inv(11)(p15q22)/MDS or ANLL →
NUP98/DDX10
Savitsky K, Ziv Y, Bar-Shira A, Gilad S, Tagle DA, Smith S,
Uziel T, Sfez S, Nahmias J, Sartiel A, Eddy RL, Shows TB,
Collins FS, Shiloh Y, Rotman G. A human gene (DDX10)
encoding a putative DEAD-box RNA helicase at 11q22-q23.
Genomics 1996 Apr 15;33(2):199-206.
Disease
Therapy related MDS and ANLL; de novo ANLL.
Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N,
Kaneko Y, Ohki M. The inv(11)(p15q22) chromosome
translocation of de novo and therapy-related myeloid
malignancies results in fusion of the nucleoporin gene, NUP98,
with the putative RNA helicase gene, DDX10. Blood 1997 Jun
1;89(11):3936-44.
Hybrid/Mutated Gene
5' NUP98 - 3' DDX10.
Abnormal Protein
Fuses the GLFG repeat domains of NUP98 to the
charged amino acids domain of DDX11.
This article should be referenced as such:
Huret JL. DDX10 (DEAD (Asp-Glu-Ala-Asp) box polypeptide
10). Atlas Genet Cytogenet Oncol Haematol.1998;2(1):3-4.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
4