Studies On Structural Variation In The Goat Genome.

Genome structural variation usually refers to the deletion,insertion,repetition,inversion,translocation and DNA copy number variation(CNVs)of DNA fragments larger than 1kb in the genome.Goats are one of the earliest domesticated animals.They are widely distributed and easy to breed.They provide a large number of resources,such as milk,meat,wool and hair,and are an important economic species.Goat genome structure mutation involving thousands of pieces of discrete areas,millions of DNA base pairs,contains multiple sequences,gene regulation and the function of many genes so absent or change,leading to the body phenotypic change.The study of goat genome structure variation,help with dynamic view of the comprehensive analysis of the genome structure variation,understanding the influence of the structure variation of phenotypic traits goats potential,providing theoretical basis for improve the production performance of goats.In this study,the CNV in goat genome was analyzed by SNP chip sequencing data.Through the whole genome data of goat genome heavy SV for further analysis and research,and compared with the fusion gene transcriptome data detected,analyze the distribution features of the structure variation in goat genome and the expression of gene transcription and might affect the production performance,thus providing theoretical basis for the breeding work of goats.The main results are as follows:1.This study conducted a CNV analysis of the SNP chip sequencing data of 1,725 goats in different regions,screened 5,783 CNVs,and finally merged into 446 CNVRs,with a total length of 134.09 Mb,and 5.58% of the goat genome.In these CNVRs,218 were missing mutations,135 were acquired with sexual variation,and 93 were absent-acquired variation.2.The result of CNV-related gene enrichment shows that there are differences among different groups,and CNV has a certain influence on phenotypic traits and production performance of goats.3.In this study,CNV analysis and further SV detection analysis of the whole genome re-sequencing data of four breeds of goats revealed that the distribution and type of SV in different breeds were different.Selecting the elimination analysis results showed that the different breeds of goats had greater differences.There are more CTX in Inner Mongolia cashmere goat and Liaoning cashmere goat genome.4.Comparative analysis showed that 12 genes were detected in CNV and fusion genes in Inner Mongolian cashmere goats,34 genes were detected in SV and fusion genes,indicating that the fusion of these genes may occur at the genome level.Studies have shown that some genes are associated with phenotypic traits in goat’s genome.5.There are differences in the results of the population structure of the internal and external SNP loci in the CNVR,which indicates that CNV has influence on the determination and analysis of SNPs,and the impact should be considered when analyzing the data.