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PubMed2026

Whole genome sequence data on Ethiopian key sorghum landraces and founder lines.

Sorghum (Sorghum bicolor (L.) Moench) is the fifth most important cereal globally. Its genetic diversity is key to improving yield stability, stress tolerance, and adaptation to different environments. Ethiopia is one of the centers for the crop's origin, diversity, and use in both human food and livestock feed. However, genomic data on Ethiopian sorghum remain limited, especially for landraces preferred by local farmers. This dataset consists of whole-genome sequencing data for 188 Ethiopian sorghum accessions, including founder lines and important landraces from major agroecological zones. Sequencing was performed using the Complete Genomics DNBSEQ-T7 platform, generating high-coverage whole-genome data (20 × coverage). On average, each accession produced 64.7 million reads. Reads were aligned to the Sorghum bicolor NCBIv3 reference genome and variants called using GATK HaplotypeCaller with joint genotyping (GATK v4.6.1.0). Hard-filtering followed GATK best-practice thresholds (QD <2.0, FS> 60.0, MQ <40.0, MQRankSum <-12.5, ReadPosRankSum <-8.0), retaining biallelic SNPs with mean depth 10-50×, missingness ≤20%, and MAF ≥0.05, yielding 6095,752 high-confidence SNPs across 185 accessions. Both the raw FASTQ files and processed VCF files are publicly available to support studies of sorghum genetic diversity, population structure, selection, and the genetic basis of important traits.

Adaptation↗

PubMed2026

The Polish Konik Horse: A Multidisciplinary Review of Its Origin, Genetics, Ecology, Health, Behaviour and Reproductive Biology.

The Polish Konik horse (PKH) is one of Europe's best-known native conservation breeds. Traditionally associated with the extinct Eurasian tarpan and conservation grazing, the breed has recently become the subject of multidisciplinary research encompassing genetics, ecology, health, behaviour and reproduction. This narrative review summarises current knowledge on the biological characteristics and contemporary scientific significance of the PKH. Literature published between 2005 and 2026 was identified through searches of PubMed, Scopus, Web of Science and Google Scholar and narratively synthesised. Available evidence suggests that, despite severe historical bottlenecks, the PKH has retained considerable genetic diversity and its characteristic maternal and paternal founder-line structure. Recent molecular studies have revised traditional concepts of the breed's origin, while ecological research supports its important role in conservation grazing and wetland restoration. Behavioural and reproductive studies indicate stable temperament, high reproductive efficiency and adaptation to extensive management systems. However, current knowledge is derived predominantly from observational studies, with relatively few comparative investigations and limited genomic and longitudinal data. The PKH represents a valuable model for research on conservation genetics, environmental adaptation, animal welfare, reproductive biology and ecosystem management. Further interdisciplinary studies are needed to strengthen the evidence base for conservation and breeding strategies.

Polish Konik horse↗

PubMed2026

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Norway to assess multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, implementation of polygenic risk scores, and the roles of non-genetic healthcare professionals. National experts and members of the ERN GENTURIS completed a structured questionnaire covering founder germline pathogenic variants (gPV) testing, panel testing for common genetic tumour risk syndromes, use of whole-exome sequencing (WES) and whole-genome sequencing, polygenic risk score implementation, use of formalin-fixed paraffin-embedded tumour samples, laboratory accreditation, and the clinical roles of physicians, genetic counselors and nurses. Significant inter-country heterogeneity was observed. Most countries rely on next-generation sequencing (NGS) multi-gene panels. Founder gPV testing is first-line in a few high-prevalence populations (e.g., BRCA1/2 founders). All 21 countries offer NGS panel tests for hereditary breast and ovarian cancer, and ≥19 countries do so for colorectal and prostate cancers. However, NGS panel size and gene composition exhibit substantial variability. WES is available in 12 countries on a routine basis. Most countries implemented genetic testing on stored tumour tissue from deceased patients. In all countries, clinical geneticists can order germline genetic tests, and in 9 countries, any physician can do so. These findings show differences in accessibility to germline genetic testing of hereditary cancer in Europe. We propose EU-wide guidance via pathways, standards of care, and sharing of best practices to further optimize access to hereditary cancer genetic molecular diagnostics.

Humans↗

PubMed2026

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

Since the recent publication of the first feline variant of the PAX3 (Paired Box 3) gene associated with blue eyes and minimal white spotting (DBE, Dominant Blue Eyes), three further variants of PAX3 have been reported in felines. However, these four variants do not account for all the different feline lines that exhibit DBE. Whole-genome sequencing using short-read and long-read technologies identified a large complex structural variant involving two deletions and an inversion in a purebred line of British shorthair and longhair cats. All 39 British cats with a BDE phenotype were heterozygous for the variant, that was absent in 47 non-DBE cats and 16 DBE cats from other breeding lines. The purebred British shorthair founder female named Nadeya was also heterozygous for the variant, and the segregation of the variant is consistent with dominant inheritance. We named this NC_058375.1:g.[205097674_207411974del;207411975_211290497inv;211290498_211387174del] variant the DBENAD (Nadeya Dominant Blue Eyes) allele. In addition, a candidate gene approach identified a nonsense variant, XM_019838731.3:c.784C>T, in the fifth exon of PAX3 in a second breeding line originating from a female named Marusya. The segregation of this nonsense variant is consistent with dominant inheritance, and a perfect genotype-phenotype correlation was observed in the 16 cats from this line, so we propose that this sixth variant of PAX3 represents the DBEMARU (Marusya Dominant Blue Eyes) allele in the domestic cat. Our study has identified two further variants of the PAX3 gene associated with DBE in domestic cats, which will help to improve genotyping of the breeding stock.

Animals↗

PubMed2026

Mapping genetic modifiers of epimutation rates identifies VIM2/4 as dosage-sensitive negative regulators of CG methylation maintenance.

Spontaneous epimutations are stochastic gains and losses of cytosine methylation that arise from imperfect maintenance across cell divisions. At CG sites, such epimutations can be inherited across generations in plants and constitute a major source of CG methylation (mCG) diversity. However, why the fidelity of mCG inheritance varies among genotypes, and how this variation relates to steady-state mCG levels, remains poorly understood. Here we tracked DNA methylation over 10 generations in ~400 mutation-accumulation lines derived from ~70 Arabidopsis thaliana Ler × Cvi recombinant inbred founders. By treating methylation gain and loss rates as quantitative molecular traits, we mapped a major-effect locus to a Cvi-derived deletion between VARIANT IN METHYLATION (VIM)2 and VIM4, two key components of the METHYLTRANSFERASE 1-dependent mCG maintenance pathway. Lines carrying this deletion showed elevated VIM2/4 (VIM2 and VIM4) expression, a rapid shift of genome-wide mCG towards a lower steady state and reduced fidelity of methylation inheritance across generations. Complementary overexpression and loss-of-function experiments identify VIM2/4 as dosage-sensitive negative regulators of mCG maintenance, in contrast to the canonical positive role of VIM-family proteins in mCG. Together, our results support a punctuated-equilibrium model of DNA methylome evolution, in which naturally segregating modifiers of mCG homeostasis can produce abrupt shifts in methylation state and alter the rate at which heritable epigenetic variation accumulates in plant genomes.

Journal Article↗

PubMed2025

Combined Evidence Reveals the Origin of a Rapid Range Expansion Despite Retained Genetic Diversity and a Weak Founder Effect.

Many species are currently experiencing range shifts in response to changing environmental conditions with potentially serious genetic consequences. Repeated founder events and strong genetic drift are expected to erode genetic variation at the range front, reducing adaptive potential and slowing or even halting the expansion. However, the severity of these consequences for common and highly mobile species undergoing environment-driven range shifts (c.f. invasions) is less clear. Here, we combined historical observations and contemporary movement data of the common reed warbler (Acrocephalus scirpaceus) with genomic evidence from across its European breeding range to (1) infer the origin and (2) quantify the genetic consequences of a recent and rapid northward range expansion. Although there were no reductions in levels of nucleotide diversity or allelic richness, nor a signal of founder effect in the directionality index (ψ), our combined dataset approach was able to infer an expansion origin from the southwest. Furthermore, we found that private allelic richness retained a slight but significant linear decline along the colonisation route. These results suggest that high dispersal capabilities can allow even philopatric species to avoid the loss of genetic diversity during rapid range expansions. Nevertheless, if multiple lines of evidence enable identification of an expansion pathway, we may still detect genetic signals of expansion.

Founder Effect↗

PubMed1977

Behavioral differences among isogenic strains of Drosophila mercatorum.

Mating propensity in eight all-female laboratory lines was measured. The lines are completely isogenic, but each has a different past history. In all cases, mating propensity was significantly lower than in the bisexual controls; in some cases, mating speed was less by a factor of 10. Three of the four lines deriving from the same wild strain are not only different from the parent strain but also different from each other. A highly significant difference exists between two strains recently obtained by selection for parthenogenesis from the same natural population. One strain appears to produce a substance which reduces mating propensity of control females if females from the two strains are reared together in the same vial. As none of the strains was behaviorally selected prior to testing, these behaviors appear to be incidental accompaniments of the very powerful isogenizing effect of the genetic system in these parthenogenetic strains. Indeed, the data show that partial isolation from sexual reproduction can arise wholly by chance. This may have some relevance to theories of species origin which are accompanied by a strong initial founder effect.

Animals↗

PubMed2026

Evaluation of germline transmission of electroporation-mediated double gene-edited cattle lines.

Gene editing in livestock using clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) offers a promising approach for genetic improvement in cattle. This study evaluated germline transmission and mutation stability of double-knockout cattle generated by zygote electroporation. Previously reported myostatin/beta-lactoglobulin (MSTN/BLG) and newly generated α-1,3-galactosyltransferase (GGTA1/BLG) double-knockout cattle were produced using CRISPR/Cas9-mediated genome editing. Targeted deep sequencing demonstrated extensive somatic mosaicism across multiple tissues. Computer-assisted sperm analysis (CASA) demonstrated normal sperm motility in MSTN/BLG double-knockout males. Fertilization of wild-type oocytes produced heterozygous embryos, with mutation frequencies of 37.76 ± 10.74% at the MSTN locus and 54.80 ± 7.73% at the BLG locus, as assessed by T7 endonuclease I (T7E1) assay. MSTN/BLG double-knockout sperm were subsequently used for embryo production and for artificial insemination of GGTA1/BLG double-knockout females. Healthy offspring were successfully obtained (n = 3), alongside one stillborn calf. Targeted deep sequencing of all four progenies revealed highly variable allele frequencies that deviated substantially from the approximately 50% expected for heterozygous germline transmission. In contrast, whole-genome sequencing (WGS) results were consistent with Mendelian expectations, underscoring the limitations of PCR-based targeted sequencing for assessing germline transmission in mosaic founders. These results show that CRISPR/Cas9-edited embryos generated by electroporation can develop into healthy, sexually mature cattle capable of germline transmission. While variable transmission rates were observed owing to founder mosaicism, non-mosaic F1 offspring were successfully generated. However, direct, embryo-mediated gene-editing strategies remain technically and economically challenging for large-scale commercial calf production, and reports in cattle are limited. This study provides a reference for future applications of gene-edited embryos and their germline propagation.

Animals↗

PubMed2026

[BRCA1 Gene's Mutations And Hereditary Breast Cancer: Genetic, Biological, And Clinical Aspects].

INTRODUCTION: Hereditary breast cancer accounts for approximately 5 to 10% of all breast cancer cases. Mutations in the BRCA1 gene, which plays a central role in DNA repair and cell cycle regulation, are the main cause of these familial forms and are strongly associated with aggressive subtypes, particularly triple-negative breast cancer. METHODS: A narrative literature review was conducted using biomedical databases (PubMed, Scopus, Web of Science, Google Scholar) between January 2024 and June 2025. Eligible publications addressed the genetic, biological, epidemiological, and clinical aspects of BRCA1 in hereditary breast cancer. RESULTS: BRCA1 ensures genomic stability through its roles in DNA repair, cell cycle checkpoints, and transcriptional regulation. Most mutations are truncating or missense variants, with some reported as founder mutations (e.g., c.68_69delAG, c.5266dupC, 943ins10). Women carrying germline BRCA1 mutations have an estimated lifetime risk of 56-87% of developing breast cancer, with a strong association with aggressive molecular subtypes, especially triple-negative breast cancer. CONCLUSION: A comprehensive understanding of BRCA1 mutations is crucial to enhance prevention, screening, and personalized management of hereditary breast cancer. In low-resource settings, the integration of genetic testing and counseling remains a major challenge and a public health priority to reduce disparities in cancer care.

Humans↗

PubMed1978

Cell lineages of the embryo of the nematode Caenorhabditis elegans.

Embryogenesis of the free-living soil nematode Caenorhabditis elegans produces a juvenile having about 550 cells at hatching. We have determined the lineages of 182 cells by tracing the divisions of individual cells in living embryos. An invariant pattern of cleavage divisions of the egg generates a set of stem cells. These stem cells are the founders of six stem cell lineages. Each lineage has its own clock--i.e., an autonomous rhythm of synchronous cell divisions. The rhythms are maintained in spite of extensive cellular rearrangement. The rate and the orientation of the cell divisions of the cell lineages are essentially invariant among individuals. Thus, the destiny of cells seems to depend primarily on their lineage history. The anterior position of the site of origin of the stem cells in the egg relates to the rate of the cell cycle clock, suggesting intracellular preprogramming of the uncleaved egg. We used a technique that allows normal embryogenesis, from the fertilized egg to hatching, outside the parent under a cover glass. Embryogenesis was followed microscopically with Nomarski interference optics and high-resolution video recording.

Animals↗

PubMed2026

Safe and Stable Germline Transmission of MSTN Mutations in Cattle.

With the global population expected to reach 10 billion by 2050, sustainable livestock production is critical. Gene editing of the myostatin (MSTN) gene represents a promising strategy to enhance muscle growth in cattle. In this study, MSTN-mutated founder (F0) cows were used to generate F1 offspring via ovum pick-up, in vitro fertilization, and embryo transfer. Four F1 calves were born, all confirmed to be heterozygous for the MSTN mutation. Long-term monitoring showed normal growth and no visible health abnormalities. Whole-genome sequencing identified SNPs, INDELs, and structural variants, most with minimal predicted functional effects. Proteomic profiling of Longissimus dorsi muscle quantified 2947 proteins, revealing only subtle expression differences between MSTN-mutated and wild-type cattle. These results demonstrate stable inheritance and confirm that MSTN editing does not disrupt genome integrity or protein expression. Overall, our findings support the safety and utility of MSTN gene editing to improve livestock productivity for future food security.

Animals↗

PubMed2026

Germline ATRIP variants and the risk of ovarian cancer.

PURPOSE: We have previously reported that inherited variants in ATRIP confer a 3-fold risk of developing breast cancer. Here, we investigated potential association between this novel breast cancer susceptibility gene and the risk of ovarian cancer. METHODS: We genotyped the ATRIP c.1152_1155del p.(Gly385Ter) Polish founder variant on germline DNA from 3404 Polish women with ovarian cancer and 9285 healthy controls. Additionally, we sequenced all coding exons of ATRIP among 1322 unselected ovarian cancer patients and 930 cancer-free women from Ontario, Canada. RESULTS: The heterozygous ATRIP c.1152_1155del p.(Gly385Ter) variant was identified in 8 of 3404 ovarian cancer cases and 11 of 9285 controls in the Polish population (OR = 1.98, 95% CI = 0.79-4.94, P = .19). In the Ontario cohort, 4 ovarian cancer cases harbored ATRIP loss-of-function (LoF) variants, versus none observed among controls (OR = 5.6, P = .14). In a combined analysis of both cohorts, adjusted for age, self-reported ethnicity, and study, ATRIP LoF variants were significantly associated with ovarian cancer risk (OR = 2.51, 95% CI = 1.108-5.699, P = .037). CONCLUSION: ATRIP plays a critical role in DNA damage response and genomic stability. Our findings support its candidacy as a novel ovarian cancer susceptibility gene.

Humans↗