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Epigenetic mechanisms.jpg

Epigenetics is a little-explored way of transmitting hereditary information. Some traits may not be encoded in nucleic acids (DNA and RNA) and still be transmitted. It is epigenetic mechanisms that can influence phenotype without changing genotype.[1] Epigenetic mechanisms are applied at a number of levels (pre-transcriptional and post-transcriptional, but also pre-translational and post-translational). They are important in morphogenesis and in the process of cell differentiation [1]. Epigenetic mechanisms are, for example, histone acetylation or DNA methylation. In human genetics, epigenetics is used, for example, X-chromosome inactivation and within Genomic Imprinting[1]. Gene imprinting is associated with a whole range of human pathology.

Illness Cytogenet. location Mechanism Gene(s)
Prader-Willi Syndrome 15q11-q13 deletion, UPD, imprinting disorder snoRNA
Angelman syndrome 15q11-q13 deletion, UPD, imprinting disorder, duplication UBE3A
Beckwith-Wiedemann syndrome 11p15.5 UPD, imprinting disorder, duplication IGF2, CDKN1C
Russell-Silver syndrome 7p11.2 UPD, duplication, inversion x
Pseudohyperparathyroidism 20q13.2 point mutation, UPD, imprinting defect GNAS1

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  1. a b c HALUŠKOVÁ, J. Epigenetic studies in human diseases. Folia Biologica [online]2010, y. 56, vol. 3, p. 83-96, Available from <http://fb.cuni.cz/Data/files/folia_biologica/volume_56_2010_3/FB2010A0014.pdf>. ISSN 0015-5500. PMID: 20653993.