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HGNC Approved Gene Symbol: DDX10
Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,665,069-108,940,927 (from NCBI)
Members of the DEAD-box RNA helicase family, such as DDX10, have a characteristic asp-glu-ala-asp (DEAD) box as 1 of 8 highly conserved sequence motifs. By altering RNA secondary structure these proteins can influence translation initiation, splicing, and ribosome and spliceosome assembly (summary by Savitsky et al., 1996).
By positional cloning within the 11q22-q23 candidate region for ataxia-telangiectasia (AT; 208900), Savitsky et al. (1996) identified a putative RNA helicase, DDX10, encoding a deduced 875-amino acid protein with DEAD box protein sequence motifs. Comparison of its sequence with other DEAD box proteins showed greatest similarity to those implicated in ribosomal assembly. Northern blot analysis of several human tissues detected ubiquitous expression of a 3.2-kb transcript, with highest expression in testis.
Savitsky et al. (1996) confirmed the localization of DDX10 to chromosome 11q22-q23 by analysis of a somatic and radiation hybrid mapping panel representing all of chromosome 11 and the 11q22-q23 region. They also identified a DDX10 pseudogene on chromosome 9q21-q22.
Arai et al. (1997) showed that the recurrent chromosome abnormality inv(11)(p15q22), which is associated with de novo and therapy-related myeloid malignancies, results in fusion of the nucleoporin gene NUP98 (601021) with DDX10. In DDX10 and NUP98, the inv(11) breakpoints occurred within 2 introns of each gene, and the 2 genes merged in-frame to produce the chimeric transcripts characteristic of this translocation. Although 2 reciprocal chimeric products, NUP98-DDX10 and DDX10-NUP98, were predicted, only NUP98-DDX10 appeared to be implicated in tumorigenesis. DDX10 is involved in ribosome assembly, and NUP98 is a nuclear pore complex protein and a target of other chromosomal translocations found in acute myeloid leukemia (see 601626). Arai et al. (1997) predicted the NUP98-DDX10 fusion protein may promote leukemogenesis through aberrant nucleoplasmic transport of mRNA or alterations in ribosome assembly.
Savitsky et al. (1996) found no mutations in the DDX10 gene in patients with AT. However, analysis of 312 AT and non-AT chromosomes revealed a rare trinucleotide repeat length polymorphism. The allele contained 10 instead of the normal 8 GAT (aspartic acid) repeats and had a frequency of about 1 in 60 chromosomes.
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 89: 3936-3944, 1997. [PubMed: 9166830]
Savitsky, K., Ziv, Y., Bar-Shira, A., Gilad, S., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., Nahmias, J., Sartiel, A., Eddy, R. L., Shows, T. B., Collins, F. S., Shiloh, Y., Rotman, G. A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23. Genomics 33: 199-206, 1996. [PubMed: 8660968] [Full Text: https://doi.org/10.1006/geno.1996.0184]