Abstract
One of the goals of modern functional genomics essential for the development of patient-specific medicine is the investigation of human genome variability under various conditions. Our functional analysis of polymorphic Alu retroelement insertions in gene introns of patients with acute lymphoblastic leukemia (ALL) has revealed an allele-specific decrease in the level of primary transcripts for 21 insertions of 31. The strongest inhibitory effects on transcription in mononuclear blood cells of healthy donors and B lymphoblasts of ALL patients have been detected for 10 insertions. The frequencies of alleles possessing two such inserts in the MEF2C gene and one in TAX1BP1 in healthy persons and ALL patients differ considerably. A prolonged effect of Alu inserts in introns on the intracellular level of the corresponding mature mRNA is demonstrated by the example of the TAX1BP1 gene.
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Abbreviations
- MM:
-
molecular marker
- ALL:
-
acute lymphoblastic leukemia
References
Onciu, M., Hematol. Oncol. Clin. North Am., 2009, vol. 23, pp. 655–674.
Callinan, P.A., Batzer, M.A., Genome Dyn., 2006, vol. 1, pp. 104–115.
Claverie-Martin, F., Flores, C., Anton-Gamero, M., Gonzalez-Acosta, H., and Garcia-Nieto, V., J. Hum. Genet., 2005, vol. 50, pp. 370–374.
Claverie-Martin, F., Gonzalez-Acosta, H., Flores, C., Anton-Gamero, M., and Garcia-Nieto, V., Hum. Genet., 2003, vol. 113, pp. 480–485.
Sukarova, E., Dimovski, A.J., Tchacarova, P., Petkov, G.H., and Efremov, G.D., Acta Haematol., 2001, vol. 106, pp. 126–129.
Miki, Y., Katagiri, T., Kasumi, F., Yoshimoto, T., and Nakamura, Y., Nat. Genet., 1996, vol. 13, pp. 245–247.
Teugels, E., De Brakeleer, S., Goelen, G., Lissens, W., Sermijn, E., and De Greve, J., Hum. Mutat., 2005, vol. 26, p. 284.
Oldridge, M., Zackai, E.H., McDonald-McGinn, D.M., Iseki, S, Morriss-Kay, G.M., Twigg, S.R., Johnson, D., Wall, S.A., Jiang, W., Theda, C., Jabs, E.W., and Wilkie, A.O., Am. J. Hum. Genet., 1999, vol. 64, pp. 446–461.
Wallace, M.R., Andersen, L.B., Saulino, A.M., Gregory, P.E., Glover, T.W., and Collins, F.S., Nature, 1991, vol. 353, pp. 864–866.
Putku, M., Kepp, K., Org, E., Sober, S., Comas, D., Viigimaa, M., Veldre, G., Juhanson, P., Hallast, P., Tonisson, N., Shaw-Hawkins, S., Caulfield, M.J., Khusnutdinova, E., Kozich, V., Munroe, P.B., and Laan, M., Hum. Mutat., 2011, vol. 32, pp. 806–814.
Barbaro, M., Kotajarvi, M., Harper, P., and Floderus, Y., Clin. Genet., 2011 (Epub ahead of print).
Guella, I., Paraboschi, E.M., van Schalkwyk, W.A., Asselta, R., and Duga, S., Thromb. Haemost., 2011, vol. 106 (Epub ahead of print).
Zhang, W., Edwards, A., Fan, W., Deininger, P., and Zhang, K., BMC Genomics, 2011, vol. 12, p. 157.
Amosova, A.L., Komkov, A.Y., Ustiugova, S.V., Mamedov, I.Z., and Lebedev, Y.B., Bioorg. Khim, 2009, vol. 35, no. 6, pp. 702–710.
Chen, L.L., DeCerbo, J.N., and Carmichael, G.G., EMBO J., 2008, vol. 27, pp. 1694–1705.
Lebedev, Y.B., Amosova, A.L., Mamedov, I.Z., Fisunov, G.Y., and Sverdlov, E.D., Gene, 2007, vol. 390, pp. 122–129.
Heerema, N.A., Raimondi, S.C., Anderson, J.R., Biegel, J., Camitta, B.M., Cooley, L.D., Gaynon, P.S., Hirsch, B., Magenis, R.E., McGavran, L., Patil, S., Pettenati, M.J., Pullen, J., Rao, K., Roulston, D., Schneider, N.R., Shuster, J.J., Sanger, W., Sutcliffe, M.J., van Tuinen, P., Watson, M.S., and Carroll, A.J., Genes Chromosomes Cancer, 2007, vol. 46, pp. 684–693.
Mertens, F., Johansson, B., and Mitelman, F., Cancer Genet. Cytogenet., 1996, vol. 92, pp. 8–10.
Harrison, C.J., Moorman, A.V., Broadfield, Z.J., Cheung, K.L., Harris, R.L., Reza, JalaliG., Robinson, H.M., Barber, K.E., Richards, S.M., Mitchell, C.D., Eden, T.O., Hann, I.M., Hill, F.G., Kinsey, S.E., Gibson, B.E., Lilleyman, J., Vora, A., Goldstone, A.H., Franklin, I.M., Durrant, J., and Martineau, M., Br. J. Haematol., 2004, vol. 125, pp. 552–559.
Mamedov, I.Z., Shagina, I.A., Kurnikova, M.A., Novozhilov, S.N., Shagin, D.A., and Lebedev, Y.B., Eur. J. Hum. Genet., 2010, vol. 18, pp. 808–814.
Ray, D.A., Walker, J.A., Hall, A., Llewellyn, B., Ballantyne, J., Christian, A.T., Turteltaub, K., and Batzer, M.A., Forensic Sci. Int., 2005, vol. 153, pp. 117–124.
Bennett, E.A., Coleman, L.E., Tsui, C., Pittard, W.S., and Devine, S.E., Genetics, 2004, vol. 168, pp. 933–951.
Carter, A.B., Salem, A.H., Hedges, D.J., Keegan, C.N., Kimball, B., Walker, J.A., Watkins, W.S., Jorde, L.B., and Batzer, M.A., Hum. Genomics, 2004, vol. 1, pp. 167–178.
Otieno, A.C., Carter, A.B., Hedges, D.J., Walker, J.A., Ray, D.A., Garber, R.K., Anders, B.A., Stoilova, N., Laborde, M.E., Fowlkes, J.D., Huang, C.H., Perodeau, B., and Batzer, M.A., J. Mol. Biol., 2004, vol. 342, pp. 109–118.
Roy-Engel, A.M., Carroll, M.L., Vogel, E., Garber, R.K., Nguyen, S.V., Salem, A.H., Batzer, M.A., and Deininger, P.L., Genetics, 2001, vol. 159, pp. 279–290.
Wang, J., Song, L., Gonder, M.K., Azrak, S., Ray, D.A., Batzer, M.A., Tishkoff, S.A., and Liang, P., Gene, 2006, vol. 365, pp. 11–20.
Sambrook, J. and Russel, D., Molecular Cloning: A Laboratory Manual, New York: Cold Spring Harbor Laboratory Press, 2001.
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Original Russian Text © A.Yu. Komkov, M.A. Maschan, V.I. Shvets, Yu.B. Lebedev, 2012, published in Bioorganicheskaya Khimiya, 2012, Vol. 38, No. 3, pp. 351–364.
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Komkov, A.Y., Maschan, M.A., Shvets, V.I. et al. Functional analysis of polymorphic insertions of Alu retroelements in acute lymphoblastic leukemia patients. Russ J Bioorg Chem 38, 306–318 (2012). https://doi.org/10.1134/S1068162012030089
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DOI: https://doi.org/10.1134/S1068162012030089