STUDY OF NONSENSE MUTATIONS IN THE HUMAN CD36 GENE
Date
2026
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
CD36 serves as a receptor for a wide range of ligands, including thrombospondin, fibronectin, collagen, oxLDL, ani onic
phospholipids, and long-chain fatty acids. Numerous studies have shown that CD36 deficiency leads to reduced insulin
resistance and exerts a protective effect against athe ros clerosis. In this regard, the question arises whether the rare vari
ants could mediate an individual metabolic response (for instance, protection against muscle insulin resistance) within
the modern dietary context, acting as rare Loss-of-Function (LoF) mechanism. The aim of the study was to investigate
the functional role of nonsense mutations in the CD36 gene and their frequency in the human population. Methods.
Allele frequencies (MAF) were analyzed using the data from gnomAD consortium, and pathogenicity was assessed
usin g CADD and GERP scores. Results. It has been established that most identified nonsense mutations are rare and
exhibit high pathogenicity scores (CADD > 20). Using SpliceAI tools and transcript-specific analysis, the variants that
escape the NMD (nonsense-mediated decay) mechanism were identified, leading to the synthesis of truncated protein
isoforms. Conclusions. The identified nonsense mutations in the CD36 gene are rare (MAF < 0.01) and characterized
by high pathogenicity scores on the CADD (>20) and GERP scales. A number of variants, localized primarily in the
final exons, were found to escape the NMD-degradation mechanism, yet they result in the loss of interaction sites with
cytoplasmic tyrosine kinases.
Description
Shkuropat, A. V. (2026). Study of nonsense mutations in the human CD36 gene. Biopolymers & Cell, 42(2), 90-99.
Keywords
CD36, нонсенсмутації, транскрипти, NMD, атеросклероз, біоінформатичний аналіз.