Epimutations in Human Disease
作者： B. Horsthemke
关键词: Genomic imprinting 、 Gene expression 、 Genetics 、 Epigenetics 、 Biology 、 Chromatin 、 Somatic cell 、 Mutation 、 DNA methylation 、 Gene
摘要: Epigenetics is the study of genes during development. Gene expression states are set by transcriptional activators and repressors locked in cell-heritable chromatin states. Inappropriate or repression can change developmental trajectories result disease. Aberrant leading to aberrant gene patterns (epimutations) have been detected several recognizable syndromes as well cancer. They occur secondary a DNA mutation cis- trans-acting factor, “true” primary epimutation absence any sequence change. Primary epimutations often after fertilization lead somatic mosaicism. It has estimated that rate one two orders magnitude greater than mutation. Therefore, contribution human disease probably underestimated.
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