Introgression contributes to distribution of structural variations in cattle

Structural variations (SVs) are an important source of phenotypic diversity in cattle. Here, 72 whole genome sequences representing taurine and zebu cattle were used to identify SVs. Applying multiple approaches, 16,738 SVs were identified. A comparison against the Database of Genomic Variants archives revealed that 1575 SVs were novel in our data. A novel duplication covering the entire GALNT15 gene, was observed only in N'Dama. A duplication, which was previously reported only in zebu and associated with navel length, was also observed in N'Dama. Investigation of a novel deletion located upstream of CAST13 gene and identified only in Italian cattle and zebu, revealed its introgressed origin in the former. Overall, our data highlights how the SVs distribution in cattle is also shaped by forces such as demographical differences and gene flow. The cattle SVs of this study and its meta-data can be visualized on an interactive genome browser at https://tinyurl.com/svCowArs

Automated summary

This study identified 16,738 SVs in cattle using 72 whole genome sequences representing taurine and zebu cattle, with 1575 of them being novel. The distribution of SVs in cattle is influenced by factors such as demographic differences and gene flow, as demonstrated by the presence of unique SVs in different cattle breeds. This research provides valuable insights into the genetic diversity and evolutionary history of cattle populations.