Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development.

ABSTRACT:

(1) background

The Mixed lineage leukemia 1 (MLL1) gene, located on chromosome 11q23, plays a pivotal role in histone lysine-specific methylation and is consistently associated with various types of leukemia. Non-synonymous Single Nucleotide Polymorphisms (nsSNPs) have been tied to numerous diseases, including cancers, and have become valuable cancer biomarkers. There's a notable gap in studies probing the influence of SNPs on MLL1 protein structure, function, and subsequent modifications.

(2) methods

We utilized an array of bioinformatics tools, including PredictSNP, InterPro, ConSurf, I-Mutant2.0, MUpro, Musitedeep, Project HOPE, RegulomeDB, Mutpred2, and both CScape and CScape Somatic, to meticulously analyze the consequences of nsSNPs in the MLL1 gene.

(3) results

SUBMITTER: Al-Nakhle HH 

PROVIDER: S-EPMC11478856 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature