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EPIMUTATsII IMPRINTIROVANNYKh GENOV V GENOME ChELOVEKA: KLASSIFIKATsIYa, PRIChINY VOZNIKNOVENIYa, SVYaZ' S NASLEDSTVENNOI PATOLOGIEI
I. N. Lebedev, E. A. Sazhenova
Nauchno-issledovatel'skii institut meditsinskoi genetiki Tomskogo nauchnogo tsentra Sibirskogo otdeleniya Rossiiskoi akademii meditsinskikh nauk, Tomsk 634050

Postupila v redaktsiyu 20.09.2007 g.

Genomnyi imprinting – epigeneticheskii fenomen, kharakterizuyushchiisya monoallel'noi ekspressiei genov v zavisimosti ot ikh roditel'skogo proiskhozhdeniya. Molekulyarnuyu osnovu takoi ekspressii sostavlyayut kovalentnye modifikatsii DNK i gistonovykh belkov, ustanavlivaemye pri sozrevanii polovykh kletok. Anomalii formirovaniya genomnogo imprintinga v gametogeneze ili ego podderzhaniya na razlichnykh etapakh ontogeneza, vyzvannye aberrantnymi epigeneticheskimi modifikatsiyami khromatina, preimushchestvenno narusheniyami statusa metilirovaniya DNK, yavlyayutsya odnoi iz form mutatsionnoi izmenchivosti imprintirovannykh lokusov genoma. V nastoyashchem obzore rassmatrivaetsya spektr epimutatsii imprintirovannykh genov, privoditsya ikh klassifikatsiya, a takzhe obsuzhdayutsya vozmozhnye prichiny vozniknoveniya i rol' v etiologii nasledstvennykh zabolevanii cheloveka.

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