Cataloging copy number variation regions and allied diversity in goat breeds spanning pan India

Huge genetic diversity is evident among the diverse goat breeds in terms of production, reproduction, adaptability, growth, disease resistance and thermo-tolerance. This diversity is an outcome of both natural and artificial selection acting on the caprine genome over the years. A fine characterization of whole genome variation is now possible by employing Next Generation Sequencing (NGS) technologies. To explore underlying genetics, genome-wide analysis of genetic markers is the best resolution. The study strived to capture variation in terms of CNV/CNVRs among 11 Indian goat breeds. In this study, the first ever resequencing-based CNV/CNVR distribution of Indigenous goat breeds was delineated, providing a sizable addition to the prior caprine CNVRs reported. Different diversity metrics were analyzed using identified CNVR. Principal component analysis (PCA) showed separate clustering of Kanniadu (KAN) and Jharkhand Black (JB) from other breeds under the study, indicating their unique genetic profile as the former breeds were sampled from institutional farms. The admixture analysis and introgression revealed by f3 statistics suggested distinct genetic structuring of JB, KAN and TEL(Tellicherry) as compared to the rest of the studied populations. Apart from this, we also identified 32 selection signatures through V_ST (Variance-stabilizing transformation) method and key genes such as ZBTB7C, BHLHE22, AGT were found elucidating the genetic architecture of hot and cold adaptation in Indian goats. Information generated hereby in the form of 32,711 autosomal CNVRs and the custom scripts ( https://github.com/kkokay07/Climate-Variables-Analysis.git , https://github.com/chau-mau/SelectCNVR.git and https://github.com/chau-mau/CNVrecaller.git ) will be of relevance in further studies on copy number based genetics.