Search bioRxiv⌕ Search

bioRxiv · 10.1101/2024.03.19.585659

Advanced median-based genetic similarity analysis in Kazakh Tazy dogs: A novel approach for breed conformity assessment

Abstract

The breed conformity evaluation is crucial for the preservation of the traits that characterise each dog breed. The use of genetic markers for this purpose provides a precision and objectivity that can surpass the reliability of phenotypic evaluations. In this study, we present a new simple algorithm for assessing breed conformity. The algorithm creates a similarity matrix based on genotypic data and then uses the median to calculate the percentage of genetic similarity that an individual has in relation to the genetic diversity of the breed. To validate the proposed algorithm, we applied it to the genotypic data of 18 microsatellites and 43,691 single nucleotide polymorphisms (SNPs) of the Kazakh Tazy dog, a breed of great cultural and historical importance to Kazakhstan that is now threatened with extinction due to crossbreeding. The algorithm showed a moderate correlation between the microsatellite and SNP genotyping methods, reflecting the different aspects of genetic similarity. In particular, the SNP-based evaluations agreed better with the expert judgements, highlighting their potential for accurate analysis of breed conformity. The proposed algorithm provides easily interpretable results, is flexible, adapts to different genetic markers and may provide an evaluation mechanism for breed conformity in situations where there is no reference population, incomplete pedigrees, unidentified meta-founders and high genetic diversity in the population. Author summaryOur research was initiated by the urgent concern for the possible extinction of the Kazakh Tazy dog, a breed with deep historical roots and cultural significance in Kazakhstan. Information at the DNA level may lead to faster genetic improvement of the breed than relying only on phenotypic data and pedigrees. Genotypic data can be processed to provide valuable insights into genetic diversity, relatedness and ancestry. However, existing methods do not provide a measure of percentage similarity that can be used to assess how closely a particular individual matches the typical genetic composition of the breed. These challenges have led us to propose an approach that overcomes the limitations of existing methods and allows genetic similarity to be assessed based on genotypes. It is based on a median-based approach to analyze genetic data and has been applied to microsatellite and SNP markers but can also be adapted to other genetic markers. This method provides results even in the absence of a defined reference population, complete pedigrees or identified meta-pedigrees and during high genetic diversity within a breed. It can provide breeders and researchers with a tool to maintain the genetic purity of unique breeds.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Perfilyeva, A., Mussabayev, R., Bespalova, K., Kuzovleva, Y., Bespalov, S., Begmanova, M., Amirgalyeva, A., Vishnyakova, O., Nazarenko, I., Perfilyeva, Y., Plakhov, K., Djansugurova, L.. 2024-03-20. Advanced median-based genetic similarity analysis in Kazakh Tazy dogs: A novel approach for breed conformity assessment. https://doi.org/10.1101/2024.03.19.585659

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

KEEP EXPLORING

Related preprints

Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis

Somatic mosaicism contributes to genomic variation, yet postzygotic structural variants remain under-characterized. We performed long- and short-read WGS from multiple individuals (n=47 normal tissues; n=168 samples) and identified mosaic structural variants in all individuals and germ layers, impacting a median 285.2 kb/genome. Nearly half of breakpoints were independently validated, with tissue distributions reflecting both early and late developmental origins. Most mosaic variants were repeat-mediated and 8.3% overlapped functional elements, an enrichment compared to germline variants. To extend these analyses in samples where long-read sequencing is infeasible, we measured repeat alterations from short-read sequencing, recapitulating mosaic tissue-specific differences. We characterized tumor- and tissue- specific variation in repeats across 15 cancer types and found tumor-related repeat variation to be similar in scale to that of normal mosaic variation. Tracking repeat changes in cell-free DNA provided a noninvasive approach for tumor monitoring. Our analyses revealed widespread repeat-driven structural variation in health and disease.

genomics↗

RNA isoform-resolved multiplexed sequencing with bioorthogonal barcoding

RNA isoform dysregulation drives disease pathogenesis and is the target of FDA-approved splice-switching therapeutics. However, multiplexed sequencing methods discard splice junction information because only 3' termini are barcoded and counted. Here, we repurpose acylation and click chemistries to conjugate bioorthogonal barcodes (bobcodes) directly onto multiple internal positions along cellular RNAs. Bobcoded RNAs from multiple samples are pooled for multiplexed cDNA synthesis, during which reverse transcriptase switches from each RNA template onto its tethered bobcode with greater than 99% accuracy in species mixing experiments. Bobcode attachment intervals set cDNA insert sizes without a library fragmentation step, and priming with poly(dT) or random hexamers selects between 3'-end counting and full-length isoform capture. A bioorthogonal barcode-sequencing (BOB-seq v0.1) drug screen identifies transcriptome-wide on- and off-target RNA splicing effects and outperforms existing multiplexing RNA sequencing methods in workflow simplicity, sample-to-sample variability, and barcoding accuracy. Bobcodes add isoform resolution to scalable multiplexed RNA sequencing.

genomics↗

Structural polymorphism and population-variable coding capacity of HERV-K(HML-2) in human pangenomes

Approximately 8% of the human genome is derived from ancient retroviral infections. The most recently integrated of these endogenous retroviruses is the HERV-K(HML-2) clade, whose expression has been associated with cancer, amyotrophic lateral sclerosis, and embryogenesis. Studies of HERV expression, particularly HML-2, have relied predominantly on short-read sequencing. However, the high similarity among HML-2 proviruses prevents many short reads from being assigned uniquely to individual loci. We therefore compared haplotype-resolved long-read genome assemblies from 292 donors to resolve variation in proviral structure and coding capacity. Several loci previously thought to be fixed were structurally polymorphic. Tandem arrays occurred at 13 loci and contained up to six proviral copies in a single array. At 8q11.23, we identified a previously undescribed full-length provirus in one haplotype. All 583 other haplotypes carried a solo-LTR. We found that standard reference genomes failed to represent the coding capacity retained in many individuals, whose proviruses contained intact open reading frames despite disruptive mutations in the reference sequences. Short-read genotypes left 32.5% of the tested donor-variant pairs unresolved at sites associated with viral reading frames. These findings show why HML-2 expression must be interpreted in the context of the structural and coding alleles each individual carries.

genomics↗