Martin-Guerrero, I. (Idoia)

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2011 - 20182

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    Epigenetic activation of SOX11 in lymphoid neoplasms by histone modifications
    (Public Library of Science, 2011) Jares, P. (Pedro); Salaverria-Lete, I. (Itziar); Richter, J. (Julia); Roman-Gomez, J. (José); Xargay-Torrent, S. (Silvia); Rosenwald, A. (Andreas); Ott, G. (German); Enjuanes, A. (Anna); Bea, S. (Silvia); Palomero, J. (Jara); Royo, C. (Cristina); Martin-Guerrero, I. (Idoia); Hernandez, L. (Luis); Amador, V. (Virginia); Campo, E. (Elías); Siebert, R. (Reiner); Balint, B. (Balazs); Lujambio, A. (Amaya); Esteller, M. (Manel); Vegliante, M.C. (Maria Carmela); Prosper-Cardoso, F. (Felipe); Calasanz-Abinzano, M.J. (Maria Jose); Aguirre-Ena, X. (Xabier); Martin-Subero, J.I. (Jose Ignacio)
    Recent studies have shown aberrant expression of SOX11 in various types of aggressive B-cell neoplasms. To elucidate the molecular mechanisms leading to such deregulation, we performed a comprehensive SOX11 gene expression and epigenetic study in stem cells, normal hematopoietic cells and different lymphoid neoplasms. We observed that SOX11 expression is associated with unmethylated DNA and presence of activating histone marks (H3K9/14Ac and H3K4me3) in embryonic stem cells and some aggressive B-cell neoplasms. In contrast, adult stem cells, normal hematopoietic cells and other lymphoid neoplasms do not express SOX11. Such repression was associated with silencing histone marks H3K9me2 and H3K27me3. The SOX11 promoter of non-malignant cells was consistently unmethylated whereas lymphoid neoplasms with silenced SOX11 tended to acquire DNA hypermethylation. SOX11 silencing in cell lines was reversed by the histone deacetylase inhibitor SAHA but not by the DNA methyltransferase inhibitor AZA. These data indicate that, although DNA hypermethylation of SOX11 is frequent in lymphoid neoplasms, it seems to be functionally inert, as SOX11 is already silenced in the hematopoietic system. In contrast, the pathogenic role of SOX11 is associated with its de novo expression in some aggressive lymphoid malignancies, which is mediated by a shift from inactivating to activating histone modifications
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    Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population.
    (Nature Research, 2018) Patiño-García, A. (Ana); Dolzan, V. (Vita); Bilbao-Aldaiturriaga, N. (Nerea); Martin-Guerrero, I. (Idoia); Garcia-Orad, A. (Africa); Gutierrez-Camino, A. (Angela); Santos-Zorrozua, B. (Borja)
    Association studies in osteosarcoma risk found significant results in intergenic regions, suggesting that regions which do not codify for proteins could play an important role. The deregulation of microRNAs (miRNAs) has been already associated with osteosarcoma. Consequently, genetic variants affecting miRNA function could be associated with risk. This study aimed to evaluate the involvement of all genetic variants in pre-miRNAs described so far in relationship to the risk of osteosarcoma. We analyzed a total of 213 genetic variants in 206 pre-miRNAs in two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations, using Goldengate Veracode technology (Illumina). Four polymorphisms in pre-miRNAs at 14q32 miRNA cluster were associated with osteosarcoma risk in the Spanish population (rs12894467, rs61992671, rs58834075 and rs12879262). Pathway enrichment analysis including target genes of these miRNAs pointed out the WNT signaling pathways overrepresented. Moreover, different single nucleotide polymorphism (SNP) effects between the two populations included were observed, suggesting the existence of population differences. In conclusion, 14q32 miRNA cluster seems to be a hotspot for osteosarcoma susceptibility in the Spanish population, but not in the Slovenian, which supports the idea of the existence of population differences in developing this disease.