Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

ABSTRACT:

Background

Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese traditional theatrical art named kabuki. The most frequent cause of this syndrome is mutations in the H3K4 family of histone methyltransferases while a smaller percentage results from genetic alterations affecting the histone demethylase, KDM6A. Because of the rare presentation of the latter form of the disease, little is known about how missense changes in the KDM6A protein sequence impact protein function.

Results

In this study, we use molecular mechanic and molecular dynamic simulations to enhance the annotation and mechanistic interpretatio

SUBMITTER: Chi YI 

PROVIDER: S-EPMC7866879 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature