Genetic diversity within the 3’UTR of the cynomolgus macaque (Macaca fascicularis) LDLR Gene

Abstract

The low-density lipoprotein receptor gene (LDLR) in body is characterized by several single nucleotide polymorphisms (SNPs) that influence normal variations of plasma lipid profiles. The cynomolgus macaques (Macaca fascicularis) are widely used animals as models for investigating the response of plasma cholesterol to dietary cholesterol, but little is known about genetic variation in its LDLR gene. In this research, genetic diversity in the 3’UTR of LDLR gene was studied using isolated DNAs of 22 cynomolgus macaques which have differences in responsiveness to atherogenic diets. The results showed that the 3’UTR sequence of LDLR gene had lower genetic diversity (nucleotide composition, number of nucleotide difference, nucleotide diversity, genetic distance, substitution pattern) than human. There are 4 polymorphic sites distributed in 6 haplotypes. Four polymorphic sites were located on *42, *167, *210, and *290. Six identified haplotypes were haplotype I (GGAC), II (GGAT), III (GGGT), IV (AGGT), V (GGGC), and VI (GCGC) with haplotype diversity 0.745% ± 0.064%. Haplotype I – V are parsimony haplotypes, while haplotype VI is singleton haplotype. The obtained polymorphism will become basic information to improve understanding and interpretation of data from hypercholesterolemial studies conducted in this species.