Relationships between CBP and p300 in Epigenetics and Rubinstein-Taybin Syndrome

Yu Wang

2021

Abstract

Rubinstein-Taybi Syndrome (RSTS) is a rare genetic disorder and accounts for one case in every 125,000 to 100,000 cases. It involves poor development of facial features, distal limb abnormalities similar to broaden thumbs and first toes and also mental retardations. RSTS could also extend to other malformations, including neurological and renal malformations. There are many epigenetic mechanisms underlying RSTS. For example, histone acetyltransferases (HATs), histone deacetylases (HDACs) and histone deacetylase inhibitors (HDACI), transcription co-activators. CBP and p300 are enzymes that are encoded by CREB-binding protein (CREBBP) gene and EP300 gene and with these two genes germline mutations, the amount of CBP and p300 could be abnormal, which leads to difficulty in transcription. CBP and p300 are histone acetyltransferases, they are responsible for histone acetylation and increasing gene expression. However, with histone deacetylase, they alter the shape of the chromosome and silence a specific region of the DNA to repress the gene expression. This problem could be solved by histone deacetylase inhibitor. HDACI inhibits HDACs to increase histone acetylation, which then increases gene expression. Nowadays, RSTS mutations could cause tumor growths. It is considered that whether if CBP and p300 as histone acetylases could function to repress tumor development. This paper discusses the underlying epigenetic mechanisms within RSTS and the suitability of using it as a tumor repressor. It is found that CBP could interact with Sam68 and process to prevent tumor formation, which Sam68 is a strong transcription repressor.

Paper Citation

in Harvard Style

Wang Y. (2021). Relationships between CBP and p300 in Epigenetics and Rubinstein-Taybin Syndrome. In Proceedings of the 2nd Conference on Artificial Intelligence and Healthcare - Volume 1: CAIH, ISBN 978-989-758-594-4, pages 152-156. DOI: 10.5220/0011210700003444

in Bibtex Style

@conference{caih21,
author={Yu Wang},
title={Relationships between CBP and p300 in Epigenetics and Rubinstein-Taybin Syndrome},
booktitle={Proceedings of the 2nd Conference on Artificial Intelligence and Healthcare - Volume 1: CAIH,},
year={2021},
pages={152-156},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0011210700003444},
isbn={978-989-758-594-4},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 2nd Conference on Artificial Intelligence and Healthcare - Volume 1: CAIH,
TI - Relationships between CBP and p300 in Epigenetics and Rubinstein-Taybin Syndrome
SN - 978-989-758-594-4
AU - Wang Y.
PY - 2021
SP - 152
EP - 156
DO - 10.5220/0011210700003444