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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.

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Spelling suggestions: "subject:"myelodysplastic syndrome; genetics;"" "subject:"myelodysplastic syndrome; kenetics;""

1

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

Graubert, T.A., Shen, D., Ding, L., Okeyo-Owuor, T., Lunn, C.L., Shao, J., Krysiak, K., Harris, C.C., Koboldt, D.C., Larson, D.E., McLellan, M.D., Dooling, D.J., Abbott, R.M., Fulton, R.S., Schmidt, H., Kalicki-Veizer, J., O'Laughlin, M., Grillot, M., Baty, J., Heath, S., Frater, J.L., Nasim, Md. Talat, Link, D.C., Tomasson, M.H., Westervelt, P., DiPersio, J.F., Mardis, E.R., Ley, T.J., Wilson, R.K., Walter, M.J. January 2012 (has links)
Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders that often progress to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole-genome sequencing to perform an unbiased comprehensive screen to discover the somatic mutations in a sample from an individual with sAML and genotyped the loci containing these mutations in the matched MDS sample. Here we show that a missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently present in 13 out of 150 (8.7%) subjects with de novo MDS, and we found suggestive evidence of an increased risk of progression to sAML associated with this mutation. U2AF1 is a U2 auxiliary factor protein that recognizes the AG splice acceptor dinucleotide at the 3' end of introns, and the alterations in U2AF1 are located in highly conserved zinc fingers of this protein. Mutant U2AF1 promotes enhanced splicing and exon skipping in reporter assays in vitro. This previously unidentified, recurrent mutation in U2AF1 implicates altered pre-mRNA splicing as a potential mechanism for MDS pathogenesis.
Adult;
Aged;
80 and over;
Base sequence;
Disease progression;
Female;
Humans;
Male;
Middle aged;
Molecular sequence data;
Mutation; Missense;
Myelodysplastic syndromes; Genetics;
Nuclear proteins;
RNA splicing;
Ribonucleoproteins;
REF 2014

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