Epigenetics
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 |
Links[edit | edit source]
Related articles[edit | edit source]
- Genomic Imprinting
- DNA methylation
- Histone modifications
- X-chromosome inactivation
- Gene imprinting and human pathologies
External links[edit | edit source]
Reference[edit | edit source]
- ↑ 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.
