bioRxiv Science⌕ Search

bioRxiv · 10.1101/395681

High-throughput Genotype based Population Structure Analysis of Selected Buffalo Breeds

Abstract

The water buffalo (Bubalus bubalis) has shown enormous milk production potential in many Asian countries. India is considered as the home tract of some of the best buffalo breeds. However, genetic structure of the Indian river buffalo is poorly understood. Hence, for selection and breeding strategies, there is a need to characterize the populations and understand the genetic structure of various buffalo breeds. In this study, we have analysed genetic variability and population structure of seven buffalo breeds from their respective geographical regions using Axiom(R) Buffalo Genotyping Array having 124,030 Single Nucleotide Polymorphisms (SNPs). Blood samples were obtained from 302 buffaloes comprising Murrah, Nili-Ravi, Mehsana, Jaffarabadi, Banni, Pandharpuri and Surti breeds. Diversity, as measured by expected heterozygosity (He) ranged from 0.364 in the Surti to 0.384 in the Murrah breed. All the breeds showed negligible inbreeding coefficient. Pair-wise FST values revealed the lowest genetic distance between Mehsana and Nili-Ravi (0.0022) while highest between Surti and Pandharpuri (0.030). Principal component analysis and structure analysis unveiled the differentiation of Surti, Pandharpuri and Jaffarabadi in first two PCs, while remaining breeds were grouped together as a separate single cluster. Murrah and Mehsana showed early linkage disequilibrium decay while Surti breed showed late decay, similarly LD based Ne was drastically declined for Murrah and Mehsana since last 100 generations. In LD blocks to QTLs concordance analysis, 14.19 per cent of concordance was observed with 873 (out of 1144) LD blocks overlapped with 8912 (out of 67804) QTLs. Overall, total 4090 markers were identified from all LD blocks for six types of traits. Results of this study indicated that these SNP markers could differentiate phenotypically distinct breeds like Surti,Pandharpuri and Jaffarabadi but not others. So, there is a need to develop SNP chip based on SNP markers identified by sequence information of local breeds.\n\nAuthor SummaryIndian buffaloes, through 13 recognised breeds, contribute about 49% in total milk production and play a vital role in enhancing the economic condition of Indian farmers. High density genotyping these breeds will allow us to study differences at the molecular level. Evolutionary relationship and phenotypes relations with genotype could be tested with high density genotyping. Breed structure analysis helps to take effective breeding policy decision. In the present study, we have used the high-throughput microarray based genotyping technology for SNP markers. These markers were used for breed differentiation using various genetic parameters. Population structure reflected the proportion of breed admixture among studied breeds. We have also tried to dig the markers associated with traits based LD calculation. However, these SNPs couldnt explain obvious variation up to the expected level, hence, there is need to develop an indigenous SNP chip based on Indian buffalo populations.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Thakor, P. B., Hinsu, A. T., Bhatia, D. R., Shah, T. M., Nayee, N., Sudhakar, A., Joshi, C. G.. 2018-08-19. High-throughput Genotype based Population Structure Analysis of Selected Buffalo Breeds. https://doi.org/10.1101/395681

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Long-read DNA sequencing reveals global hypomethylation and focal hypermethylation in SDHx-deficient pheochromocytoma and paraganglioma

Pheochromocytomas and paragangliomas (PPGL) are highly heritable neuroendocrine tumors of the autonomic ganglia. Genomic DNA in most cancer cells is hypomethylated. However, DNA in PPGLs secondary to mutations in succinate dehydrogenase complex (SDHx) genes is reportedly hypermethylated due to succinate-mediated inhibition of DNA demethylases. We used nanopore long-read sequencing to characterize the methylome of tumor and white blood cell DNA from SDHx and non-SDHx PPGL patients, alongside normal adrenal medulla. We find that both SDHx and non-SDHx PPGLs are globally hypomethylated, particularly at centromeres. In normal adrenal medulla, CpG islands marked by H3K4 methylation are hypomethylated, whereas CpG islands lacking H3K4 methylation are hypermethylated. In SDHx-related PPGL, some H3K4me-marked CpG islands are hypermethylated, but most are not. We propose that DNA methylation in SDHx-related PPGL reflects the global hypomethylation generally observed in tumors, partly offset by succinate-mediated inhibition of TET DNA demethylases. Opposing effects of succinate may alter the balance between DNA methylation (indirect inhibition of the DNMT3A/B DNA methylases via inhibition of H3K4me demethylases) and DNA demethylation (inhibition of TET DNA demethylases) at active CpG islands.

genomics↗

High piRNA abundance is a hallmark of evolutionarily persistent piRNA-producing loci.

PIWI-interacting RNAs (piRNAs) silence transposons in the germline, and the loci that produce them diverge rapidly between species. Yet, some loci retain both their genomic location and their piRNA production across large evolutionary distances, and the basis for this conservation is unclear. To identify the features that distinguish these persistent loci, we compared piRNA production at orthologous loci in three closely related mouse species, contrasting loci that produce piRNAs in all three species with those that do so in only one. Transposon content and UTR features, often linked to piRNA production, did not distinguish the two groups. Transcription extending beyond gene ends (readthrough) was more frequent at conserved loci, but did not explain conservation once the amount of piRNAs produced was taken into account. Instead, we found that the conserved loci are those that produce the most piRNAs. The same association holds true in human and two other primate species. We speculate that most piRNAs expressed in testis are tolerated molecular noise, and that only the highly expressed minority are likely to be functional.

genomics↗

Epigenome-informed Polymer Modeling Reveals Chromosome Folding Landscapes across Distinct Genetic and Epigenetic Contexts

Three-dimensional (3D) genome organization is critical for gene regulation, enabling long-range interactions between genes and distal regulatory elements. Genomic structural variations and epigenetic differences can perturb this organization, contributing to phenotypic variation and tissue-specific gene regulation. Prior studies have assessed the impact of these genetic and epigenetic changes on 3D genome folding, primarily using population-averaged features such as topologically associating domains and loops. However, growing evidence from single-cell and live-imaging studies indicates that chromosomes are highly dynamic and exist as heterogeneous ensembles of conformations. Here, we applied an epigenetic-state-informed polymer modeling framework to generate chromosomal conformational ensembles directly from cell- and tissue-specific epigenomic data. The resulting ensembles reproduced experimental Hi-C maps across cell lines and tissue types. Comparison of these conformational ensembles revealed that, although polymer dynamics were conserved across cell lines, their folding landscapes diverged. These differences arose primarily from cell-line-specific chromatin-state interaction networks and were concentrated in rare, long-lived contacts. Furthermore, modeling a TAD-boundary-disrupting deletion without re-optimizing the model parameters indicated a shift in the chromatin conformational ensemble from predominantly insulated to predominantly fused states. The modeled deletion also selectively strengthened active chromatin contacts and differentially disrupted enhancer contacts involving neighboring genes. Finally, comparison of two tissue types from the same donor revealed epigenetically driven rewiring of chromatin-state interaction networks. These findings establish chromosomal conformational ensembles as a sensitive readout of genome reorganization across distinct genetic and epigenetic contexts.

genomics↗