China Animal Husbandry & Veterinary Medicine ›› 2025, Vol. 52 ›› Issue (11): 5243-5253.doi: 10.16431/j.cnki.1671-7236.2025.11.021

• Genetics and Breeding • Previous Articles    

Gene Differential Expression Mediated by Insertion/Deletion Structural Variants in 3'-UTR of CTSV Gene in Xiang Pigs

LONG Juyan1, TIAN Jiao1, CEN Xiaoli1, CHEN Xia1, NIU Xi1, HUANG Shihui2, WANG Jiafu1, RAN Xueqin2   

  1. 1. Key Laboratory of Plant Resource Conservation and Germplasm Innovation in Mountainous Region (Ministry of Education), College of Life Sciences/Institute of Agro-Bioengineering, Guizhou University, Guiyang 550025, China;
    2. Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, College of Animal Science, Guizhou University, Guiyang 550025, China
  • Received:2025-02-21 Published:2025-10-30

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Abstract: 【Objective】 Cathepsin V (CTSV),a lysosomal cysteine protease,exhibits abnormal expression in various diseases,and structural variation (SV) is a significant contributor to genomic diversity and differential gene expression.This study aimed to explore the genetic diversity and effect on gene expression of a 517 bp insertion/deletion SV in the 3'-UTR of CTSV gene in Xiang pig populations,providing potential molecular markers for the excellent genetic breeding of Xiang pigs. 【Method】 With 319 Xiang pigs as experimental subjects and 245 Large White pigs as control breeds,gene typing was conducted via PCR technology.The genotype distribution and genetic characteristic of the 3'-UTR SV of CTSV gene in Xiang pigs and Large White pigs was analyzed.Software such as UCSC,miRanDa,PITA,and RBPsuite were utilized to analyze the repetitive elements,miRNA binding sites,and RNA binding protein (RBP) binding sites contained within 3'-UTR SV of CTSV gene.Real-time quantitative PCR was applied to detect the expression differences of CTSV gene with different genotypes in lung of Xiang pigs.Meanwhile,Western blotting was used to detect the expression of CTSV protein. 【Result】 Through PCR genotyping,wild-type (WW),heterozygous (WD),and deletion-type (DD) were detected in both Xiang pigs and Large White pigs,with WW being the predominant genotype in both breeds.However,the allele frequency of the deletion-type (D) in Xiang pigs (32.29%) was extremely significantly higher than that in Large White pigs (8.57%)(P＜0.01).Population genetic characteristic analysis revealed that the 3'-UTR SV of CTSV gene exhibited moderate polymorphism in Xiang pigs and low polymorphism in Large White pigs.χ2 test found that this SV was not in Hardy-Weinberg equilibrium in both pig populations (P＜0.05).Bioinformatics analysis showed that the 3'-UTR SV of CTSV gene contained one short interspersed nuclear element (SINE) repeat sequence,18 miRNA,and 22 RBP binding sites.Real-time quantitative PCR and Western blotting analysis results showed that the mRNA and protein expression of CTSV gene in lung of Xiang pigs with WD and DD genotypes were significantly or extremely significantly higher than those with WW genotype (P＜0.05 or P＜0.01). 【Conclusion】 The 517 bp deletion of CTSV gene 3'-UTR resulted in the presence of SINE elements in the SV,leading to the loss or alteration of binding sites for miRNA and RBPs,and causing abnormal expression and accumulation of CTSV gene.

Key words: Xiang pigs; CTSV gene; structural variation; polymorphism; expression

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