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Functional importance of epigenetic mechanisms in genome, and the role in development and disease etiopathogenesis

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(1)

Functional importance of epigenetic mechanisms in

genome, and the role in development and disease

etiopathogenesis

(2)

Epigenetic Epigenetic

changes in gene expression without changes in gene expression without

change in the genotype

change in the genotype

(3)

Epigenetic modifications Epigenetic modifications

DNA methylation DNA methylation

Histone modifications Histone modifications

Chromatin structure Chromatin structure

(chromatin remodeling complexes) (chromatin remodeling complexes)

(4)

- DNMT1 (maintenance methylase) - DNMT3A, 3B (de novo methylase)

* CpG islands

(5)
(6)
(7)
(8)
(9)
(10)

Proteins binding to methylated Proteins binding to methylated

cytosine cytosine

- MBD1-4

- MBD1-4

- MECP2

- MECP2

(11)
(12)
(13)
(14)
(15)

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