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TAD boundaries are genomic elements that separate biological processes in neighboring domains by blocking DNA loops that are formed through Cohesin‐mediated loop extrusion. Most TAD boundaries consist of arrays of binding sites for the CTCF protein, whose interaction with the Cohesin complex blocks loop extrusion. TAD boundaries are not fully impermeable though and allow a limited amount of inter‐TAD loop formation. Based on the reanalysis of Nano‐C data, a multicontact Chromosome Conformation Capture assay, we propose a model whereby clustered CTCF binding sites promote the successive stalling of Cohesin and subsequent dissociation from the chromatin. A fraction of Cohesin nonetheless achieves boundary read‐through. Due to a constant rate of Cohesin dissociation elsewhere in the genome, the maximum length of inter‐TAD loops is restricted though. We speculate that the DNA‐encoded organization of stalling sites regulates TAD boundary permeability and discuss implications for enhancer–promoter loop formation and other genomic processes. [ABSTRACT FROM AUTHOR]

Cohesin is a ring‐shaped complex that is loaded on DNA in two different conformations. In one conformation, it forms loops to organize the interphase genome; in the other, it topologically encircles sibling chromosomes to facilitate homologous recombination and to establish the cohesion that is required for orderly segregation during mitosis. How, and even if, these two loading conformation are related is unclear. Here, I propose that loop binding is a required first step for topological binding. This loop‐binding‐first model integrates the known information about the two loading mechanisms, explains genetic requirements for the two and explains how topological loading evolved from loop binding. [ABSTRACT FROM AUTHOR]

Summary: Synthetic genomics involves the design, assembly, and transfer of artificially synthesized DNA fragments into target hosts to replace the native genome and construct viable forms of life. With advances in DNA synthesis and assembly techniques, the application of synthetic genomics in viruses, bacteria, and yeast has improved our knowledge of genome organization and function. Multicellular eukaryotic organisms are characterized by larger genomes, more complex epigenetic regulation, and widespread transposable elements, making genome synthesis challenging. Recently, the first synthetic multicellular eukaryotic organism was generated in the model plant Physcomitrium patens with a partially synthetic chromosome arm. Here, we introduce the design and assembly principles of moss genome synthesis. We also discuss the remaining technical barriers in the application of synthetic genomics in seed plants. [ABSTRACT FROM AUTHOR]

Hybridisation and introgression are increasingly seen as important drivers of the evolution of organisms, particularly in Lepidoptera. One group that is gaining attention due to recently published cases of interspecific gene flow is the genus Melitaea Fabricius (Nymphalidae). In this study, we used genomics to investigate the role of hybridisation in the evolution of the western Palearctic species of the Melitaea phoebe group M. ornata Christoph, the recently described M. pseudornata Muñoz Sariot & Sánchez Mesa, M. phoebe (Denis & Schiffermüller), M. punica Oberthür, and M. telona (Fruhstorfer). We provide evidence of asymmetric gene flow from M. phoebe to both M. ornata and M. pseudornata. Gene flow from M. phoebe to M. pseudornata was very high (25.0%–31.9%), widespread throughout the distribution of the latter, and not equally distributed along the genome. The Z chromosome showed patterns compatible with the large‐Z effect, which were mimicked by two autosomes. Melitaea pseudornata endured massive introgression while remaining a separate entity from M. phoebe, although gene flow may have altered its phenotype, including its voltinism and the morphology of the adults and caterpillars. These findings suggest that hybridisation may be pervasive in this genus and highlight its key role in the evolution of butterflies, emphasising the need for further research on this topic. [ABSTRACT FROM AUTHOR]

SUMMARY Ilex is known for its rich content of secondary metabolites, particularly triterpenoid saponins. These compounds hold significant value in natural remedies and herbal medicine. However, the molecular mechanisms responsible for triterpenoid biosynthesis in plants of this genus remain largely unexplored. In this study, we successfully generated the first chromosome‐scale genome of Ilex hylonoma. The assembly, comprising 20 anchored chromosomes, has an N50 contig size of 2.13 Mb and a scaffold size of 33.68 Mb. Comparative genome analyses with two other congeners with available chromosome‐level genomes suggested that an end‐to‐end chromosome fusion event likely contributed to the reduction in chromosome number from n = 20 to n = 19 within this genus. By integrating transcriptomic and metabolomic data, we identified the gene expression patterns and metabolite profiles of I. hylonoma across three commonly utilized medicinal tissues. We subsequently pinpointed candidate genes involved in the regulation of triterpenoid saponin biosynthesis, including CYP450 genes, UGT genes, and associated transcription factors. Furthermore, yeast heterologous expression analysis revealed that ihyl08363 catalyzed the conversion of β‐amyrin into oleanolic acid, while ihyl04303 catalyzed the C‐2α hydroxylation of oleanolic acid to produce maslinic acid. This integrated analysis provides valuable insights into the biosynthesis of important triterpenoid saponins in medicinal Ilex plants. [ABSTRACT FROM AUTHOR]

Summary Centromeres are specific regions of the chromosomes that play a pivotal role in the segregation of chromosomes, by facilitating the loading of the kinetochore, which forms the link between the chromosomes to the spindle fibres during cell division. In plants and animals, these regions often form megabase‐scale loci of tandemly repeated DNA sequences, which have presented a challenge to genomic studies even in model species. The functional designation of centromeres is determined epigenetically by the incorporation of a centromere‐specific variant of histone H3. Recent developments in long‐read sequencing technology have allowed the assembly of these regions for the first time and have prompted a reassessment of fidelity of centromere function and the evolutionary dynamics of these regions. [ABSTRACT FROM AUTHOR]

Recurrent selection is a proven method and targeted recombination is a potential method for achieving genetic gain. Our objectives were to determine the (1) equivalency in predicted gains between cycles of recurrent selection and targeted recombination in maize (Zea mays L.), (2) correspondence between targeted‐recombination positions when gains from nontargeted chromosomes are considered versus ignored, and (3) trade‐offs in predicted gains for yield and moisture in targeted recombination. From genomewide marker effects for 2911 single nucleotide polymorphism loci in 270 biparental populations, we obtained predicted gains from fixed numbers of targeted recombinations and compared these gains to the genotypic‐value distributions of doubled haploids obtained from different cycles of simulated recurrent selection. On average, it took three cycles of single‐trait recurrent selection to obtain at least a few doubled haploid lines with the same performance achieved with nine or 10 targeted recombinations in Cycle 0. Results indicated that when targeting recombinations across the genome, gains from segregation on nontargeted chromosomes do not need to be considered. Predicted increases in yield were associated with increases in moisture. Given the logistics of pyramiding targeted recombinations and the lack of mature technologies for routine targeted recombination, recurrent selection is currently the preferred approach for accumulating favorable recombinations. [ABSTRACT FROM AUTHOR]

The spindle assembly checkpoint (SAC) ensures chromosome segregation fidelity by manipulating unattached kinetochore‐dependent assembly of the mitotic checkpoint complex (MCC). The MCC binds to and inhibits the anaphase promoting complex/cyclosome (APC/C) to postpone mitotic exit. However, the mechanism by which unattached kinetochores mediate MCC formation is not yet fully understood. Here, it is shown that CCDC68 is an outer kinetochore protein that preferentially localizes to unattached kinetochores. Furthermore, CCDC68 interacts with the SAC factor CDC20 to inhibit its autoubiquitination and MCC disassembly. Therefore, CCDC68 restrains APC/C activation to ensure a robust SAC and allow sufficient time for chromosome alignment, thus ensuring chromosomal stability. Hence, the study reveals that CCDC68 is required for CDC20‐dependent MCC stabilization to maintain mitotic checkpoint activation. [ABSTRACT FROM AUTHOR]

Summary Aegilops umbellulata serve as an important reservoir for novel biotic and abiotic stress tolerance for wheat improvement. However, chromosomal rearrangements and evolutionary trajectory of this species remain to be elucidated. Here, we present a comprehensive investigation into Ae. umbellulata genome by generating a high‐quality near telomere‐to‐telomere genome assembly of PI 554389 and resequencing 20 additional Ae. umbellulata genomes representing diverse geographical and phenotypic variations. Our analysis unveils complex chromosomal rearrangements, most prominently in 4U and 6U chromosomes, delineating a distinct evolutionary trajectory of Ae. umbellulata from wheat and its relatives. Furthermore, our data rectified the erroneous naming of chromosomes 4U and 6U in the past and highlighted multiple major evolutionary events that led to the present‐day U‐genome. Resequencing of diverse Ae. umbellulata accessions revealed high genetic diversity within the species, partitioning into three distinct evolutionary sub‐populations and supported by extensive phenotypic variability in resistance against several races/pathotypes of five major wheat diseases. Disease evaluations indicated the presence of several novel resistance genes in the resequenced lines for future studies. Resequencing also resulted in the identification of six new haplotypes for Lr9, the first resistance gene cloned from Ae. umbellulata. The extensive genomic and phenotypic resources presented in this study will expedite the future genetic exploration of Ae. umbellulata, facilitating efforts aimed at enhancing resiliency and productivity in wheat. [ABSTRACT FROM AUTHOR]

Summary The cotton genus comprises both diploid and allotetraploid species, and the diversity in petal colour within this genus offers valuable targets for studying orthologous gene function differentiation and evolution. However, the genetic basis for this diversity in petal colour remains largely unknown. The red petal colour primarily comes from C, G, K, and D genome species, and it is likely that the common ancestor of cotton had red petals. Here, by employing a clone mapping strategy, we mapped the red petal trait to a specific region on chromosome A07 in upland cotton. Genomic comparisons and phylogenetic analyses revealed that the red petal phenotype introgressed from G. bickii. Transcriptome analysis indicated that GhRPRS1, which encodes a glutathione S‐transferase, was the causative gene for the red petal colour. Knocking out GhRPRS1 resulted in white petals and the absence of red spots, while overexpression of both genotypes of GhRPRS1 led to red petals. Further analysis suggested that GhRPRS1 played a role in transporting pelargonidin‐3‐O‐glucoside and cyanidin‐3‐O‐glucoside. Promoter activity analysis indicated that variations in the promoter, but not in the gene body of GhRPRS1, have led to different petal colours within the genus. Our findings provide new insights into orthologous gene evolution as well as new strategies for modifying promoters in cotton breeding. [ABSTRACT FROM AUTHOR]

Premise Methods Results Conclusions The wheat tribe, Triticeae, has been the subject of molecular phylogenetic analyses for nearly three decades, and extensive phylogenetic conflict has been apparent from the earliest comparisons among DNA‐based data sets. While most previous analyses focused primarily on nuclear vs. chloroplast DNA conflict, the present analysis provides a broader picture of conflict among nuclear loci throughout the tribe.Exon data were generated from over 1000 nuclear loci using targeted sequence capture with custom baits, and nearly complete chloroplast genome sequences were recovered. Phylogenetic conflict was assessed among the trees from the chloroplast genomes, the concatenated nuclear loci, and a series of nuclear‐locus subsets guided by Hordeum chromosome gene maps.At the intergeneric level, the analyses collectively revealed a few broadly consistent relationships. However, the prevailing pattern was one of extensive phylogenetic conflict throughout the tribe, among both deep and shallow branches, and with the extent of the conflict varying among data subsets.The results suggest continual introgression or lineage sorting within and among the named lineages of the Triticeae, shaping both deep and shallow relationships in the tribe. [ABSTRACT FROM AUTHOR]

Summary: The holoparasitic plant Lophophytum mirabile exhibits remarkable levels of mitochondrial horizontal gene transfer (HGT). Gathering comparative data from other individuals and host plants can provide insights into the HGT process.We sequenced the mitochondrial genome (mtDNA) from individuals of two species of Lophophytum and from mimosoid hosts. We applied a stringent phylogenomic approach to elucidate the origin of the whole mtDNAs, estimate the timing of the transfers, and understand the molecular mechanisms involved.Ancestral and recent HGT events replaced and enlarged the multichromosomal mtDNA of Lophophytum spp., with the foreign DNA ascending to 74%. A total of 14 foreign mitochondrial chromosomes originated from continuous regions in the host mtDNA flanked by short direct repeats. These foreign tracts are circularized by microhomology‐mediated repair pathways and replicate independently until they are lost or they eventually recombine with other chromosomes. The foreign noncoding chromosomes are variably present in the population and likely evolve by genetic drift.We present the 'circle‐mediated HGT' model in which foreign mitochondrial DNA tracts become circular and are maintained as plasmid‐like molecules. This model challenges the conventional belief that foreign DNA must be integrated into the recipient genome for successful HGT. [ABSTRACT FROM AUTHOR]

Large structural variants in the genome, such as inversions, may play an important role in producing population structure and local adaptation to the environment through suppression of recombination. However, relatively few studies have linked inversions to phenotypic traits that are sexually selected and may play a role in reproductive isolation. Here, we found that geographic differences in the sexually selected plumage of a warbler, the common yellowthroat (Geothlypis trichas), are largely due to differences in the Z (sex) chromosome (males are ZZ), which contains at least one putative inversion spanning 40% (31/77 Mb) of its length. The inversions on the Z chromosome vary dramatically east and west of the Appalachian Mountains, which provides evidence of cryptic population structure within the range of the most widespread eastern subspecies (G. t. trichas). In an eastern (New York) and western (Wisconsin) population of this subspecies, female prefer different male ornaments; larger black facial masks are preferred in Wisconsin and larger yellow breasts are preferred in New York. The putative inversion also contains genes related to vision, which could influence mating preferences. Thus, structural variants on the Z chromosome are associated with geographic differences in male ornaments and female choice, which may provide a mechanism for maintaining different patterns of sexual selection in spite of gene flow between populations of the same subspecies. [ABSTRACT FROM AUTHOR]

Chromosome congression and alignment are essential for cell cycle progression and genomic stability. Kinesin‐7 CENP‐E, a plus‐end‐directed kinesin motor, is required for chromosome biorientation, congression and alignment in cell division. However, it remains unclear how chromosomes are aligned and segregated in the absence of CENP‐E in mitosis. In this study, we utilize the CRISPR‐Cas9 gene editing method and high‐throughput screening to establish CENP‐E knockout cell lines and reveal that CENP‐E deletion results in defects in chromosome congression, alignment and segregation, which further promotes aneuploidy and genomic instability in mitosis. Both CENP‐E inhibition and deletion lead to the dispersion of spindle poles, the formation of the multipolar spindle and spindle disorganization, which indicates that CENP‐E is necessary for the organization and maintenance of spindle poles. In addition, CENP‐E heterozygous deletion in spleen tissues also leads to the accumulation of dividing lymphocytes and cell cycle arrest in vivo. Furthermore, CENP‐E deletion also disrupts the localization of key kinetochore proteins and triggers the activation of the spindle assembly checkpoint. In summary, our findings demonstrate that CENP‐E promotes kinetochore‐microtubule attachment and spindle pole organization to regulate chromosome alignment and spindle assembly checkpoint during cell division. [ABSTRACT FROM AUTHOR]

SUMMARY Trichomes, which originate from the epidermal cell of aerial organs, provide plants with defense and secretion functions. Although numerous genes have been implicated in trichome development, the molecular mechanisms underlying trichome cell formation in plants remain incompletely understood. Here, we using genome‐wide association study (GWAS) across 1037 diverse accessions in upland cotton (Gossypium hirsutum) to identify three loci associated with leaf pubescence (hair) amount, located on chromosome A06 (LPA1), A08 (LPA2) and A11 (LPA3), respectively. GhHD1, a previously characterized candidate gene, was identified on LPA1 and encodes an HD‐Zip transcription factor. For LPA2 and LPA3, we identified two candidate genes, GhGIR1 and GhGIR2, both encoding proteins with WD40 and RING domains that act as inhibitors of leaf hair formation. Expression analysis revealed that GhHD1 was predominantly expressed in hairy accessions, whereas GhGIR1 and GhGIR2 were expressed in hairless accessions. Silencing GhHD1 or overexpressing GhGIR1 in hairy accessions induced in a hairless phenotype, whereas silencing GhGIR2 in hairless accessions resulted in a hairy phenotype. We also demonstrated that GhHD1 interact with both GhGIR1 and GhGIR2, and GhGIR1 can interact with GhGIR2. Further investigation indicated that GhHD1 functions as a transcriptional activator, binding to the promoters of the GhGIR1 and GhGIR2 to active their expression, whereas GhGIR1 and GhGIR2 can suppress the transcriptional activation of GhHD1. Our findings shed light on the intricate regulatory network involving GhHD1, GhGIR1 and GhGIR2 in the initiation and development of plant epidermal hairs in cotton. [ABSTRACT FROM AUTHOR]

Grasses are considered one of the most important angiosperm groups in economic terms. The Setaria sphacelata complex is an intriguing species with considerable variation in genome size (GS). It is currently being explored from a genomic perspective especially because of its great adaptability under winter periods. Repetitive DNA sequences are known to contribute significantly to GS diversity, which in turn can play a role in impacting the ecology and evolution of a species. This study is aimed to characterize the GS and repetitive elements of different germplasm accessions of S. sphacelata. We analyzed 540 plants from 70 accessions collected worldwide. Flow cytometry was used for GS estimation, together with chromosome counting, fluorescent in situ hybridization (FISH), and bioinformatic analysis. Most (i.e., 80%) accessions were tetraploids (2n = 4x = 36) with GS ranging from 3.0 to 3.7 pg/2C. Additionally, a low number of diploids (2n = 2x = 18; ∼1.6 to 2 pg/2C), pentaploids (2n = 5x = 45: ∼4 pg/2C), hexaploids (2n = 6x = 54; ∼4.4 pg/2C), and octoploids (2n = 8x = 72; ∼6 pg/2C,) were detected. The greatest variation was found in accessions from South Africa. RepeatExplorer2 showed that 39% and 43% of the genomes of two diploid accessions comprised repetitive sequences, with Ty3/gypsy retrotransposons being the most abundant repeats. However, variation in the percentage of two Ty3/gypsy sublineages, Athila and Ogre, suggests different process of amplification and deletion of repeats during the evolution of the species complex. In contrast, FISH revealed some satellite repeats with a conserved localized distribution in pericentromeric regions between accessions. Although differences in the distribution of the FISH signals over the chromosomes were observed between the different ploidy levels, the data suggest that increases in the ploidy level were associated with the occurrence of hybridization and DNA loss. [ABSTRACT FROM AUTHOR]

ABSTRACT Sugarcane (Saccharum spp. hybrids) are complex polyploid and aneuploid interspecific hybrids with 110–130 chromosomes. A traditional sugarcane breeding cycle takes 13–15 years and involves multiple years and locations testing of yield. To identify molecular markers associated with yield‐related traits, the LCP 85‐384 cultivar and its mapping population of 263 self‐progenies were planted in two randomly replicated field plots. The mapping population was genotyped with amplified fragment length polymorphism (AFLP), simple sequence repeats (SSR) and target region amplification polymorphism (TRAP) markers. Data on plant height, stalk number, stalk diameter and stalk weight were collected. A large variation was observed for each trait. A genome‐wide association study (GWAS) was conducted using mixed linear model (MLM), generalized linear model (GLM) and single marker regression (SMR) programmes of TASSEL 5 and FarmCPU of GAPIT 3. A total of 64 yield trait‐associated alleles were identified, including 11 for stalk number, 36 for stalk weight, 21 for stalk diameter and 5 for plant height. Of the 64 alleles, seven were linked to two traits and one to three traits. Genomic prediction (GP) was also performed by cross‐prediction with five models, namely, ridge regression best linear unbiased prediction (rrBLUP), Bayesian ridge regression (BRR), Bayesian A (BA), Bayesian B (BB), and Bayesian least absolute shrinkage and selection operator (BL). Prediction accuracy (r value) reached 0.40 for plant height, 0.36 for stalk number, 0.44 for stalk diameter and 0.54 for stalk weight with the standard errors from 0.009 to 0.012. Once verified, these markers will be a valuable tool to aid in the selection of yield‐related traits in sugarcane improvement programmes. [ABSTRACT FROM AUTHOR]

Previous studies have reported the functional role, biochemical features and synthesis pathway of podophyllotoxin (PTOX) in plants. In this study, we employed combined morphological and molecular techniques to identify an endophytic fungus and extract PTOX derivatives. Based on the analysis of ITS sequences and the phylogenetic tree, the isolate was classified as Penicillium herquei HGN12.1C, with a sequence identity of 98.58%. Morphologically, the HGN12.1C strain exhibits white colonies, short‐branched mycelia and densely packed hyphae. Using PacBio sequencing at an average read depth of 195×, we obtained a high‐quality genome for the HGN12.1C strain, which is 34.9 Mb in size, containing eight chromosomes, one mitochondrial genome and a GC content of 46.5%. Genome analysis revealed 10 genes potentially involved in PTOX biosynthesis. These genes include VdtD, Pinoresinollariciresinol reductase (PLR), Secoisolariciresinol dehydrogenase (SDH), CYP719A23, CYP71BE54, O‐methyltransferase 1 (OMT1), O‐methyltransferase 3 (OMT3), 2‐ODD, CYP71CU and CYP82D61. Notably, the VdtD gene in fungi shares functional similarities with the DIR gene found in plants. Additionally, we identified peltatin, a PTOX derivative, in the HGN12.1C extract. Docking analysis suggests a potential role for the 2‐ODD enzyme in converting yatein to deoxypodophyllotoxin. These findings offer invaluable insights into the synthesis mechanism of PTOX in fungi, shedding light on the relationship between host plants and endophytes. [ABSTRACT FROM AUTHOR]

Background: X‐linked recessive type 3 Charcot–Marie–Tooth (CMTX3) is a rare subtype of childhood‐onset CMT. To date, all reported CMTX3 patients share a common founder 78 kb insertion from chromosome 8 into the Xq27.1 palindrome region. Methods: We conducted patient–parent trio optical genome mapping (OGM) on a male patient presenting with clinically diagnosed Dejerine–Sottas disease for whom initial standard diagnostic genetic tests, including whole‐genome sequencing (WGS), yielded negative results. Results: OGM analysis revealed a maternally inherited interchromosomal insertion from chromosome region 7q31.1 into Xq27.1. Coupled with manual reassessment of WGS data, this confirmed the molecular diagnosis of atypical CMTX3 and showed that the 122.4 kb inserted fragment contained DLD and partially LAMB1. Subsequent analyses confirmed that the rearrangement had arisen de novo in the proband's mother. Conclusion: We report the second Xq27.1 rearrangement associated with CMTX3, providing novel clinical insights into its phenotypic and genotypic spectrum. Our findings highlight the importance of including genomic rearrangement analysis of Xq27.1 in standard diagnostic pipelines for childhood‐onset CMT. Given the overlap in polyneuropathy phenotypes resulting from insertions from chromosomes 7 and 8 into the same Xq27.1 palindrome region, the pathogenic mechanism underlying peripheral neuropathy in CMTX3 likely involves dysregulation of genes within this region. [ABSTRACT FROM AUTHOR]

Background: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods: In this study, we conducted peripheral blood chromosome G‐banding karyotyping and whole‐exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G‐banding karyotyping was also carried out on the proband's parents and brother. Results: The 7‐month‐old proband was found to have a 26.738 Mb 4p15.33‐p14 deletion as identified by chromosome G‐banding karyotyping and WES. Conclusion: We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome. [ABSTRACT FROM AUTHOR]

Summary: The B chromosomes exhibit diverse behaviour compared with conventional genetic models. The capacity of the B chromosome either to accumulate or to be eliminated in a tissue‐specific manner is dependent on biological processes related to aberrant cell division(s), but here yet remains compatible with normal development.We studied B chromosome elimination in Sorghum purpureosericeum embryos through cryo‐sections and demonstrated the B chromosome instability during plant growth using flow cytometry, molecular markers and fluorescent in situ hybridization techniques. Consequently, using B chromosome‐specific probes we revealed the non‐Mendelian inheritance of B chromosomes in developing pollen.We disclosed that the occurrence of the B chromosome is specific to certain tissues or organs. The distribution pattern is mainly caused by an extensive elimination that functions primarily during embryo development and persists throughout plant development. Furthermore, we described that B chromosome accumulation can occur either by nondisjunction at first pollen mitosis (PMI) or the initiation of extra nuclear division(s) during pollen development.Our study demonstrates the existence of a not‐yet‐fully described B chromosome drive process, which is likely under the control of the B chromosome. [ABSTRACT FROM AUTHOR]

Replicated secondary contact zones can provide insights into the barriers to gene flow that are important during speciation and can reveal to which degree secondary contact may result in similar evolutionary outcomes. Here, we studied two secondary contact zones between highly differentiated Alpine butterflies of the genus Erebia using whole‐genome resequencing data. We assessed the genomic relationships between populations and species and found hybridization to be rare, with no to little current or historical introgression in either contact zone. There are large similarities between contact zones, consistent with an allopatric origin of interspecific differentiation, with no indications for ongoing reinforcing selection. Consistent with expected reduced effective population size, we further find that scaffolds related to the Z‐chromosome show increased differentiation compared to the already high levels across the entire genome, which could also hint towards a contribution of the Z chromosome to species divergence in this system. Finally, we detected the presence of the endosymbiont Wolbachia, which can cause reproductive isolation between its hosts, in all E. cassioides, while it appears to be fully or largely absent in contact zone populations of E. tyndarus. We discuss how this rare pattern may have arisen and how it may have affected the dynamics of speciation upon secondary contact. [ABSTRACT FROM AUTHOR]

This work demonstrates for the first time using molecular markers alongside chromosomes and the intermediate phenotype that a specimen of Dorcadion is an accidental first‐generation hybrid. The analyses were based on two mitochondrial and five nuclear molecular markers. While analysing the putative parental taxa of the hybrid, it was revealed that even Dorcadion lugubre lugubre Kraatz is likely a hybridogenic taxon. Coincidentally, a new lead was discovered concerning the parental taxa of Dorcadion aethiops (Scopoli), already known as a hybridogenic species. This new evidence of hybridisation adds to the recent publications to strengthen the hypothesis that, in Dorcadionini, this phenomenon is relatively frequent, and speciation is often reticulate: New taxa can appear through introgressive hybridisation, explaining in part the extreme species richness of the group. [ABSTRACT FROM AUTHOR]

SUMMARY: Sugarcane is the main source of sugar worldwide, and 80% of the sucrose production comes from sugarcane. However, the genetic differentiation and basis of agronomic traits remain obscure. Here, we sequenced the whole‐genome of 219 elite worldwide sugarcane cultivar accessions. A total of approximately 6 million high‐quality genome‐wide single nucleotide polymorphisms (SNPs) were detected. A genome‐wide association study identified a total of 2198 SNPs that were significantly associated with sucrose content, stalk number, plant height, stalk diameter, cane yield, and sugar yield. We observed homozygous tendency of favor alleles of these loci, and over 80% of cultivar accessions carried the favor alleles of the SNPs or haplotypes associated with sucrose content. Gene introgression analysis showed that the number of chromosome segments from Saccharum spontaneum decreased with the breeding time of cultivars, while those from S. officinarum increased in recent cultivars. A series of selection signatures were identified in sugarcane improvement procession, of which 104 were simultaneously associated with agronomic traits and 45 of them were mainly associated with sucrose content. We further proposed that as per sugarcane transgenic experiments, ShN/AINV3.1 plays a positive role in increasing stalk number, plant height, and stalk diameter. These findings provide comprehensive resources for understanding the genetic basis of agronomic traits and will be beneficial to germplasm innovation, screening molecular markers, and future sugarcane cultivar improvement. Significance Statement: By whole‐genome sequencing of 219 worldwide sugarcane cultivars, our study furthers previous understanding of genetic basis of six important agronomic traits and selection signatures between cultivars and wild species, and during sugarcane cultivar improvement. Furthermore, sucrose content‐related loci were relatively fully selected and utilized in modern sugarcane cultivars, then cloning and validation of ShN/AINV3.1 would favor more increase in cane yield. [ABSTRACT FROM AUTHOR]

Cannabinoid hemp is a dioecious crop where pistillate plants are selectively grown to maximize cannabinoid yields. Errant pollination can reduce pistillate flower yields, cannabinoid concentrations, and lead to unmarketable flowers due to the presence of undesirable seeds. We compared pollen sensitivity and agronomic performance of diploid (2n = 2x = 20 chromosomes) and triploid (2n = 3x = 30 chromosomes) cannabinoid hemp in open-field conditions. The high-CBD variety Lifter and high-CBG variety White CBG were evaluated in both their diploid and triploid counterparts in fields with and without pollen. Trials were conducted during the 2021 and 2022 field seasons in Kentucky, New York, and North Carolina (n = 6 site years). Triploids produced taller and wider plants than diploids; however, this did not result in yield differences in the pollen-free environment. In the presence of pollen, triploid Lifter and White CBG produced 87% and 77% fewer seeds than their diploid counterparts, respectively. Increased seed production in diploids also resulted in a significant reduction of seed-free biomass and cannabinoid concentrations compared to triploids. In the absence of pollen, we did not find any appreciable differences in seed-free biomass or cannabinoid concentrations between triploids and diploids. Though not completely pollen-insensitive, triploidy is an effective means to reduce seed production and improve yields and quality in cannabinoid hemp in the presence of pollen. [ABSTRACT FROM AUTHOR]

Esophageal spindle‐cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole‐exome sequencing of laser‐capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high‐frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK–RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

We analyzed variations in the epidermal growth factor receptor (EGFR) gene and 5′‐upstream region to identify potential molecular predictors of treatment response in primary epithelial ovarian cancer. Tumor tissues collected during debulking surgery from the prospective multicenter OVCAD study were investigated. Copy number variations in the human endogenous retrovirus sequence human endogenous retrovirus K9 (HERVK9) and EGFR Exons 7 and 9, as well as repeat length and loss of heterozygosity of polymorphic CA‐SSR I and relative EGFR mRNA expression were determined quantitatively. At least one EGFR variation was observed in 94% of the patients. Among the 30 combinations of variations discovered, enhanced platinum sensitivity (n = 151) was found dominantly with HERVK9 haploidy and Exon 7 tetraploidy, overrepresented among patients with survival ≥120 months (24/29, p =.0212). EGFR overexpression (≥80 percentile) was significantly less likely in the responders (17% vs. 32%, p =.044). Multivariate Cox regression analysis, including age, FIGO stage, and grade, indicated that the patients' subgroup was prognostically significant for CA‐SSR I repeat length <18 CA for both alleles (HR 0.276, 95% confidence interval 0.109–0.655, p =.001). Although EGFR variations occur in ovarian cancer, the mRNA levels remain low compared to other EGFR‐mutated cancers. Notably, the inherited length of the CA‐SSR I repeat, HERVK9 haploidy, and Exon 7 tetraploidy conferred three times higher odds ratio to survive for more than 10 years under therapy. This may add value in guiding therapies if determined during follow‐up in circulating tumor cells or circulating tumor DNA and offers HERVK9 as a potential therapeutic target. [ABSTRACT FROM AUTHOR]

ABSTRACT This study employed genome‐wide association studies (GWAS) to identify the crucial marker–trait associations (MTAs) for agronomic and physiological traits in bread wheat grown under full irrigation and 40% reduced irrigation. One hundred twenty‐four genotypes derived from three‐way crosses of landraces and synthetic bread wheat were evaluated for 2 years in the field conditions of CIMMYT Obregon, Mexico. Irrigation was not provided at anthesis and post‐anthesis stage for the drought treatment, and data of 12 traits were recorded. Most of the traits were reduced significantly under drought conditions except for vigour, wax and spike length (SL); genotypes were significantly different for the eight traits except for days to heading (DTH), number of grains spike−1 (NGS), normalized difference in vegetation index (NDVI) and canopy temperature depression (CTD); and differences were also significant for five traits between the years. Moreover, GY was significantly and negatively correlated with wax and CTD. Our GWAS results indicated 117 significant (p ≤ 0.001) MTAs distributed on all the wheat chromosomes except chromosomes 4B and 4D explaining 10%–21.5% of the phenotypic variation of the corresponding traits. Moreover, 22 MTAs were recorded for grain yield and explaining the phenotypic variations up to 14.7% with one common association under both irrigated and drought conditions. Additionally, we also identified the associations for NDVI, CTD and SL at chromosome 1B, suggesting that genotypes are sustaining superior grain yield through better values of traits like NDVI, CTD, and SL under the challenging conditions of anthesis and post‐anthesis drought stress. [ABSTRACT FROM AUTHOR]

Utilizing valuable genes and alleles from crop wild relatives (CWRs) and transferring them to elite varieties requires a thorough understanding of species cross compatibility and reproductive systems. In this review, we examine interspecific crossing among peanut CWRs, chromosome pairing during meiosis, and pollen viability of Filial 1 hybrids. We analyze each parameter in relation to phylogenetic distances and current taxonomic and genomic classification, aiming to develop a cross‐compatibility scheme for the crop's secondary gene pool. Analysis of passport information and species names from research groups worldwide over the past 60 years revealed diverse frequencies of genome combinations (17) and species (26) used in hybridization assays. However, only eight species accounted for nearly 50% of successful hybridizations. In intragenomic hybrids, bivalent frequency ranged from 9.1 to 10, with pollen viability typically between 30% and 60%. Intergenomic hybrids exhibited bivalent frequency between 4.8 and 8.5, with pollen viability below 10%. Outliers were observed in the various parameters and hybrids were analyzed. Phylogenetic distance presented an inverse relationship with all variables; the correlation was low with crossing success while moderate with bivalent frequency and pollen viability. These findings suggest that differences in DNA sequences are not the sole determinants of interspecific cross‐compatibility, indicating the presence of pre‐ or postzygotic hybridization barriers. This organized information is crucial for establishing a framework to facilitate the rational selection of parents with desired traits and appropriate genome combinations, ultimately aiding in the development of new amphidiploids compatible with peanut varieties. [ABSTRACT FROM AUTHOR]

Piglet birth weight is associated with preweaning survival, and its related traits have been included in the breeding program. Thus, understanding its genetic basis is essential. This study identified four birth weight‐associated genomic regions on chromosomes 2, 4, 5, and 7 through genome‐wide association study analysis in 7286 pigs from three different pure breeds using the FarmCPU model. The genetic and phenotypic variance explained by the four candidate regions is 8.42% and 1.85%, respectively. Twenty‐eight candidate genes were detected, of which APPL2, TGFBI, MACROH2A1, and SEC22B have been reported to affect body growth or development. In addition, 21 H3K4me3‐enriched peaks overlapped with the birth weight‐associated genomic regions were identified by integrating the genome‐wide association study results with our previous ChIP‐seq and RNA‐seq data generated in the pig placenta, a fetal organ relevant to birth weight, and three of the regulatory regions influence TGFBI, MACROH2A1, and SEC22B expression. This study provides new insights into understanding the mechanisms for birth weight. Further investigating the variants in the regulatory regions would help identify the functional variants for birth weight in pigs. [ABSTRACT FROM AUTHOR]

As important yield components, the genetic analysis of ear‐related traits could provide a theoretical basis for maize breeding. Here, we reported the comprehensive genetic architecture of five ear‐related traits using 150 recombinant inbred lines (RIL) populations derived from the cross between Xu178 and K12. Besides, two sets of association populations were used to dissect genetic loci of five traits by genome‐wide association study (GWAS). A total of 32 QTLs of ear‐related traits were detected in the linkage mapping. Based on the mixed linear model (MLM), a total of 117 significant SNP markers of ear‐related traits were detected. Furthermore, a combined GWAS and linkage mapping analysis revealed 51 significant SNP markers fell within the confidence interval of QTLs. A total of seven co‐located significant SNP markers among different traits were found. Finally, six important candidate genes related to grain development were screened out. In addition, through haplotype analysis, two favourable haplotypes were found on chromosome 4, which could increase row number per ear (RNE), kernel number per row (KNR) and grain yield per plant (GYP) to a certain extent. Compared with the random model, the prediction accuracy of genomic prediction (GP) was improved in different degrees by considering the significant SNP markers as fixed effects. The stable genetic QTLs, candidate genes and favourable haplotypes found in this study are valuable resources, which will provide theoretical reference for high‐yield breeding of maize. Taken together, the research results also highlight the benefits of integrating GWAS with GP to further improve the accuracy of GP. [ABSTRACT FROM AUTHOR]

Plasmids incur a fitness cost that has the potential to restrict the dissemination of resistance in bacterial pathogens. However, bacteria can overcome this disadvantage by compensatory evolution to maintain their resistance. Compensatory evolution can occur via both chromosomes and plasmids, but there are a few reviews regarding this topic, and most of them focus on plasmids. In this review, we provide a comprehensive overview of the currently reported mechanisms underlying compensatory evolution on chromosomes and plasmids, elucidate key targets regulating plasmid fitness cost, and discuss future challenges in this field. We found that compensatory evolution on chromosomes primarily arises from mutations in transcriptional regulatory factors, whereas compensatory evolution of plasmids predominantly involves three pathways: plasmid copy number regulation, conjugation transfer efficiency, and expression of antimicrobial resistance (AMR) genes. Furthermore, the importance of reasonable selection of research subjects and effective integration of diverse advanced research methods is also emphasized in our future study on compensatory mechanisms. Overall, this review establishes a theoretical framework that aims to provide innovative ideas for minimizing the emergence and spread of AMR genes. [ABSTRACT FROM AUTHOR]

The Three Prime Repair Exonuclease 1 (TREX1) has been implicated in several pathologies characterized by chronic and inborn inflammation. Aberrant innate immunity caused by DNA sensing through the cGAS‐STING pathway has been proposed to play a major role in the etiology of these interferonopathies. However, the molecular source of this DNA sensing and the possible involvement of TREX1 in genome (in)stability remains poorly understood. Recent findings reignite the debate about the cellular functions performed by TREX1 nuclease, notably in chromosome biology and stability. Here I put into perspective recent findings that suggest that TREX1 is at the crossroads of DNA damage response and inflammation in different pathological contexts. [ABSTRACT FROM AUTHOR]

In billion years of evolution, eukaryotes preserved the chromosome ends with arrays of guanine repeats surrounded by thymines and adenines, which can form stacks of four‐stranded planar structure known as G‐quadruplex (G4). The rationale behind the evolutionary conservation of the G4 structure at the telomere remained elusive. Our recent study has shed light on this matter by revealing that telomere G4 undergoes oscillation between at least two distinct folded conformations. Additionally, tumor suppressor BRCA2 exhibits a unique mode of interaction with telomere G4. To elaborate, BRCA2 directly interacts with G‐triplex (G3)‐derived intermediates that form during the interconversion of the two different G4 states. In doing so, BRCA2 remodels the G4, facilitating the restart of stalled replication forks. In this review, we succinctly summarize the findings regarding the dynamicity of telomeric G4, emphasize its importance in maintaining telomere replication homeostasis, and the physiological consequences of losing G4 dynamicity at the telomere. [ABSTRACT FROM AUTHOR]

Spodoptera frugiperda, also known as fall armyworm (FAW), is an invasive crop pest that can feed on a variety of host plants, posing a serious threat to food security. There are two sympatric strains of FAW that are morphologically identical but described with different food preferences: the "rice strain" (SfR) and the "corn strain" (SfC). A few genetic loci exist to identify these two strains. Mitochondrial and Z‐chromosome‐linked haplotypes are the most used, but the biggest part of the genome displays little polymorphism between strains that could explain their adaptation to different plants. We have previously observed consistent transcription differences between the strains in both laboratory and natural populations. Therefore, we wonder if there are effects from host‐strain‐associated loci, maternally or paternally inherited, on FAW performance that could explain the divergence between the two FAW strains. To test this hypothesis, we first produced two F1 hybrid generations (SfR ♀ × SfC ♂, SfC ♀ × SfR ♂). These reciprocal hybrids should be heterozygous for all chromosomes except for the maternally inherited mitochondrial and sexual W chromosomes. To evaluate whether plant preference is determined by these genetic loci, we cultivated the two hybrids and the two parental strains in triplicate on an artificial diet and recorded several phenotypic traits such as weight over time, survival rate, emerging rate, developmental time, and sex ratio. Then, the same performance experiment was carried out on corn plants. Surprisingly, on the artificial diet, the two hybrid genotypes were both more performant than the two parental strains in terms of survival rate, pupal emerging rate, and developmental time, whereas they were intermediate to the inbred parental strains in pupal weight. On the corn plant diet, both hybrid genotypes outperformed the two parental strains in larval weight. Although these asymmetrical results revealed that mitochondrial or sex‐linked haplotypes alone cannot explain the performance differences, they suggested a heterosis effect in FAW. A reduction of the female number for the CR genotype and the decreased F1 offspring reproduction in both hybrids suggested the possibility of Haldane's rule, which might be explained by the dominance model. [ABSTRACT FROM AUTHOR]

A well‐developed root system is essential for efficient nutrient and water uptake. We phenotyped a set of 172 Triticum durum–Aegilops speltoides backcross introgression lines (BILs) for various root architecture traits during 2019–2020 and 2020–2021 cropping seasons. The roots were sampled at the maximum tillering stage, and data on various root architecture traits were recorded. The quantitative trait loci (QTL) mapping was carried out using 5672 polymorphic SNPs obtained from genotyping‐by‐sequencing. A total of 21 QTLs were detected for various root architecture traits on chromosomes 1A, 2A, 2B, 3B, 5A and 6B. Stable QTLs were detected for total root length, number of root tips and root dry weight over the two seasons. Candidate genes were identified by scanning the physical interval corresponding to the linkage disequilibrium (LD) decay flanking the SNPs linked to the stable QTLs. In silico expression studies of postulated candidate genes revealed root‐specific upregulation of some of the genes. These QTLs can be used in breeding programmes after the development and validation of suitable marker assays. [ABSTRACT FROM AUTHOR]

Developing improved common bean varieties with short cooking time (CT) and good canning quality traits (CQTs) is very key for accelerating bean consumption among the urban and middle‐class population. The objective of this study was to assess the genotypic variability and identify single nucleotide polymorphism (SNP) markers associated with CT and CQTs in common bean. A total of 250 common bean accessions were evaluated under field conditions for two seasons using alpha lattice design with two replications. Three months post‐harvest, the dry bean grains were evaluated for CT and CQTs. Significant variation was observed among the 250 common bean accessions tested for both traits. CT ranged from 51 to 215 min, with 11 genotypes cooking in less than 60 min. The percentage total CQTs' score ranged from 41% to 84% with 31 genotypes scoring 76% and above. Forty‐seven significant GWAS signals were detected for CT on chromosomes Pv01, Pv04, Pv05 and Pv11 and CQTs on Pv01, Pv02, Pv03, Pv04, Pv05, Pv06, Pv07, Pv08, Pv10 and Pv11, respectively. Positional candidate genes including Phvul.005G161200 on chromosome Pv05, Phvul.007G2803001 and Phvul.007G280700 on chromosome Pv07 were associated with seed coat colour retention of the canned beans. Besides their usefulness in breeding research, the identified bean genotypes with shorter CT and good CQTs could enhance bean consumption and processing industries. [ABSTRACT FROM AUTHOR]

Aneuploidy frequently occurs in cancer and developmental diseases such as Down syndrome, with its functional consequences implicated in dosage effects on gene expression and global perturbation of stress response and cell proliferation pathways. However, how aneuploidy affects spatial genome organization remains less understood. In this study, we addressed this question by utilizing the previously established isogenic wild‐type (WT) and trisomic mouse embryonic stem cells (mESCs). We employed a combination of Hi‐C, RNA‐seq, chromosome painting and nascent RNA imaging technologies to compare the spatial genome structures and gene transcription among these cells. We found that trisomy has little effect on spatial genome organization at the level of A/B compartment or topologically associating domain (TAD). Inter‐chromosomal interactions are associated with chromosome regions with high gene density, active histone modifications and high transcription levels, which are confirmed by imaging. Imaging also revealed contracted chromosome volume and weakened transcriptional activity for trisomic chromosomes, suggesting potential implications for the transcriptional output of these chromosomes. Our data resources and findings may contribute to a better understanding of the consequences of aneuploidy from the angle of spatial genome organization. [ABSTRACT FROM AUTHOR]

Background: Mucopolysaccharidosis type I (MPS‐I) is a rare autosomal recessive genetic lysosomal storage disorder that is caused by pathogenic variants of the α‐L‐iduronidase (IDUA) gene. This study aimed to identify the genetic causes of MPS‐I in a Chinese patient and construct a minigene of IDUA to analyze its variants upon splicing. Methods: Whole‐exome sequencing (WES) and Sanger sequencing were used to confirm the potential causative variants. Single‐nucleotide polymorphism (SNP) array was subsequently performed to confirm uniparental disomy (UPD). Minigene assay was performed to analyze the effect on splicing of mRNA. We meanwhile explored the conservative analysis and protein homology simulation. Results: A novel homozygous splicing mutation of IDUA, c.159‐9T>A, was identified in an individual presenting with overlapping features of MPS‐I. Interestingly, only the father and sisters, but not the mother, carried the variant in a heterozygous state. WES and SNP array analyses validated paternal UPD on chromosome 4. Minigene splicing revealed two aberrant splicing events: exon 2 skipping and intron 1 retention. Moreover, the specific structure of the mutant protein obviously changed according to the results of the homologous model. Conclusions: This study describes a rare autosomal recessive disorder with paternal UPD of chromosome 4 leading to the homozygosity of the IDUA splicing variant in patients with MPS‐I for the first time. This study expands the variant spectrum of IDUA and provides insights into the splicing system, facilitating its enhanced diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Although cowpea mild mottle virus (CPMMV) has been reported in Brazil since 1983, it has only become a significant concern for researchers and farmers in recent years. The objective of this work was to investigate the genetic basis of CPMMV tolerance, mapping and reporting the first loci associated with this trait in common bean (cv. BRS Sublime). Phenotypic assays were carried out on 180 individual plants (F2 generation) and 180 F2:3 progenies comprising 12 plants per family and their parents (BRS Sublime, tolerant parent × CNFCT 16207, susceptible parent). CPMMV was mechanically inoculated and symptoms were evaluated at 35 days after inoculation, using a 1–5 scoring scale. A linkage map was constructed using 1695 single‐nucleotide polymorphism (SNP) and SilicoDArT markers that segregated in the F2 and F2:3 generations as expected. Markers were distributed across 11 common bean chromosomes, resulting in a total length of 2864 cM, with an average distance between markers of 1.8 cM. Phenotypic observations revealed that tolerance in cv. BRS Sublime is controlled by a single dominant gene. The main effect quantitative trait locus (QTL; CPMMV.Pv08) associated with CPMMV tolerance was identified in the terminal region on chromosome 8 (Pv08). This QTL explained approximately 77% of phenotypic variation, indicating that the inheritance of tolerance to CPMMV is monogenic, controlled by a major locus. As far as we know, this study represents the first investigation into the inheritance and genetic mapping of CPMMV tolerance in common bean, with potential for the development of elite lines with multiple virus resistance/tolerance. [ABSTRACT FROM AUTHOR]

SUMMARY: Structural maintenance of chromosome (SMC) complexes play roles in cohesion, condensation, replication, transcription, and DNA repair. Their cores are composed of SMC proteins with a unique structure consisting of an ATPase head, long arm, and hinge. SMC complexes form long rod‐like structures, which can change to ring‐like and elbow‐bent conformations upon binding ATP, DNA, and other regulatory factors. These SMC dynamic conformational changes are involved in their loading, translocation, and DNA loop extrusion. Here, we examined the binding and role of the PpNSE5 regulatory factor of Physcomitrium patens PpSMC5/6 complex. We found that the PpNSE5 C‐terminal half (aa230–505) is required for binding to its PpNSE6 partner, while the N‐terminal half (aa1–230) binds PpSMC subunits. Specifically, the first 71 amino acids of PpNSE5 were required for binding to PpSMC6. Interestingly, the PpNSE5 binding required the PpSMC6 head‐proximal joint region and PpSMC5 hinge‐proximal arm, suggesting a long distance between binding sites on PpSMC5 and PpSMC6 arms. Therefore, we hypothesize that PpNSE5 either links two antiparallel SMC5/6 complexes or binds one SMC5/6 in elbow‐bent conformation, the later model being consistent with the role of NSE5/NSE6 dimer as SMC5/6 loading factor to DNA lesions. In addition, we generated the P. patens Ppnse5KO1 mutant line with an N‐terminally truncated version of PpNSE5, which exhibited DNA repair defects while keeping a normal number of rDNA repeats. As the first 71 amino acids of PpNSE5 are required for PpSMC6 binding, our results suggest the role of PpNSE5–PpSMC6 interaction in SMC5/6 loading to DNA lesions. [ABSTRACT FROM AUTHOR]

Delay discounting refers to the behavioral tendency to devalue rewards as a function of their delay in receipt. Heightened delay discounting has been associated with substance use disorders and multiple co‐occurring psychopathologies. Human and animal genetic studies have established that delay discounting is heritable, but only a few associated genes have been identified. We aimed to identify novel genetic loci associated with delay discounting through a genome‐wide association study (GWAS) using Heterogeneous Stock (HS) rats, a genetically diverse outbred population derived from eight inbred founder strains. We assessed delay discounting in 650 male and female HS rats using an adjusting amount procedure in which rats chose between smaller immediate sucrose rewards or a larger reward at various delays. Preference switch points were calculated and both exponential and hyperbolic functions were fitted to these indifference points. Area under the curve (AUC) and the discounting parameter k of both functions were used as delay discounting measures. GWAS for AUC, exponential k, and one indifference point identified significant loci on chromosomes 20 and 14. The gene Slc35f1, which encodes a member of the solute carrier family, was the sole gene within the chromosome 20 locus. That locus also contained an eQTL for Slc35f1, suggesting that heritable differences in the expression might be responsible for the association with behavior. Adgrl3, which encodes a latrophilin subfamily G‐protein coupled receptor, was the sole gene within the chromosome 14 locus. These findings implicate novel genes in delay discounting and highlight the need for further exploration. [ABSTRACT FROM AUTHOR]

During the last 60 years many inherited traits in domestic outbred cats were selected and retained giving birth to new breeds characterised by singular coat or morphological phenotypes. Among them, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Various established breeds also introduced this trait in their lineages. The trait, that was confirmed as autosomal dominant by breeding data, was first described in domestic cats from Kazakhstan and Russia, in British shorthair and British longhair from Russia, and in Maine Coon cats from the Netherlands, suggesting different founding effects. Using a genome‐wide association study we identified a single region on chromosome C1 that was associated with the minimal white spotting and blue eyes phenotype (also called DBE by breeders for dominant blue eyes) in the French Celestial breed. Within that region we identified Paired Box 3 (PAX3) as the strongest candidate gene, since PAX3 is a key regulator of MITF (Melanocyte‐InducingTranscriptionFactor) and PAX3 variants have been previously identified in various species showing white spotting with or without blue eyes including the mouse and the horse. Whole genome sequencing of a Celestial cat revealed an endogenous retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 known to contain regulatory sequences (conserved non‐coding element [CNE]) involved in PAX3 expression. The insertion is in the vicinity of CNE2 and CNE3. All 52 Celestial and Celestial‐mixed cats with a DBE phenotype presented the insertion, that was absent in their 22 non‐DBE littermates and in 87 non‐DBE cats from various breeds. The outbred Celestial founder was also heterozygous for the insertion. Additionally, the variant was found in nine DBE Maine Coon cats related to the Celestial founder and four DBE Siberian cats with an uncertain origin. Segregation of the variant in the Celestial breed is consistent with dominant inheritance and does not appear to be associated with deafness. We propose that this NC_018730.3:g.206974029_206974030insN[395] variant represents the DBECEL (Celestial Dominant Blue Eyes) allele in the domestic cat. [ABSTRACT FROM AUTHOR]

A new species of Senecio (Asteraceae, Senecioneae), Senecio anjanericus is described and illustrated from the Anjaneri Hills of Nashik district, Maharashtra, India, based on morphological and cytogenetical studies. The species resembles Senecio bombayensis, but differs from it in small size of the ligules, presence of conspicuous foliose supplementary bracts and dense indumentum on stem. The somatic chromosome number was observed to be 2n = 2x = 20, with all the chromosomes exhibiting median region centromeres. A detailed morphological description, illustration and karyotypic features of the new species are provided. [ABSTRACT FROM AUTHOR]

Premise: A complicating factor in analyzing allopolyploid genomes is the possibility of physical interactions between homoeologous chromosomes during meiosis, resulting in either crossover (homoeologous exchanges) or non‐crossover products (homoeologous gene conversion). Homoeologous gene conversion was first described in cotton by comparing SNP patterns in sequences from two diploid progenitors with those from the allopolyploid subgenomes. These analyses, however, did not explicitly consider other evolutionary scenarios that may give rise to similar SNP patterns as homoeologous gene conversion, creating uncertainties about the reality of the inferred gene conversion events. Methods: Here, we use an expanded phylogenetic sampling of high‐quality genome assemblies from seven allopolyploid Gossypium species (all derived from the same polyploidy event), four diploid species (two closely related to each subgenome), and a diploid outgroup to derive a robust method for identifying potential genomic regions of gene conversion and homoeologous exchange. Results: We found little evidence for homoeologous gene conversion in allopolyploid cottons, and that only two of the 40 best‐supported events were shared by more than one species. We did, however, reveal a single, shared homoeologous exchange event at one end of chromosome 1, which occurred shortly after allopolyploidization but prior to divergence of the descendant species. Conclusions: Overall, our analyses demonstrated that homoeologous gene conversion and homoeologous exchanges are uncommon in Gossypium, affecting between zero and 24 genes per subgenome (0.0–0.065%) across the seven species. More generally, we highlighted the potential problems of using simple four‐taxon tests to investigate patterns of homoeologous gene conversion in established allopolyploids. [ABSTRACT FROM AUTHOR]

A new genus and species, Castrila latens, native to the south‐eastern Iberian Peninsula, is described here for the first time and compared with its closest relatives. The plant is characterized by being annual, glabrous, having reduplicate leaves in whorls of (5)6–7, inflorescences capitate and involucrate, corolla shortly hypocrateriform and white, with yellowish doliiform tube, stamens included, and ovary and mericarps densely papillose. An endemic plant, it grows on the calcareous mountains of the Sierra Seca, Sierra de Castril, and Sierra de la Cabrilla, between 1800 and 2100 m of elevation, in the Granada and Jaén provinces (eastern Andalusia, Spain). For this genus and species, a description, an illustration, a distribution map, the chromosome number, the assessment of the conservation status, an estimate of the breeding system, and the situation in the Rubieae phylogenetic tree are provided. [ABSTRACT FROM AUTHOR]

Objectives Background Methods Results Interpretation We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult‐onset demyelinating leukodystrophy (ADLD), and to understand the genotype/phenotype correlation of structural variants (SVs) in the LMNB1 locus.Since the discovery of 3D genome architectures and topologically associating domains (TADs), new pathomechanisms have been postulated for SVs, regardless of gene dosage changes. ADLD is a rare genetic disease associated with duplications (classical ADLD) or noncoding deletions (atypical ADLD) in the LMNB1 locus.High‐throughput chromosome conformation capture, RNA sequencing, histopathological analyses of postmortem brain tissues, and clinical and neuroradiological investigations were performed.We collected data from >20 families worldwide carrying SVs in the LMNB1 locus and reported strong clinical variability, even among patients carrying duplications of the entire LMNB1 gene, ranging from classical and atypical ADLD to asymptomatic carriers. We showed that patients with classic ADLD always carried intra‐TAD duplications, resulting in a simple gene dose gain. Atypical ADLD was caused by LMNB1 forebrain‐specific misexpression due to inter‐TAD deletions or duplications. The inter‐TAD duplication, which extends centromerically and crosses the 2 TAD boundaries, did not cause ADLD. Our results provide evidence that astrocytes are key players in ADLD pathology.Our study sheds light on the 3D genome and TAD structural changes associated with SVs in the LMNB1 locus, and shows that a duplication encompassing LMNB1 is not sufficient per se to diagnose ADLD, thereby strongly affecting genetic counseling. Our study supports breaking TADs as an emerging pathogenic mechanism that should be considered when studying brain diseases. ANN NEUROL 2024 [ABSTRACT FROM AUTHOR]

Fem is a W‐linked gene that encodes a piRNA precursor, and its product, Fem piRNA, is a master factor of female determination in Bombyx mori. Fem has low similarity to any known sequences, and the origin of Fem remains unclear. So far, two hypotheses have been proposed for the origin of Fem: The first hypothesis is that Fem is an allele of Masc, which assumes that the W chromosome was originally a homologous chromosome of the Z chromosome. The second hypothesis is that Fem arose by the transposition of Masc to the W chromosome. To explore the origin of Fem, we determined the W chromosome sequences of B. mori and, as a comparison, a closely relative bombycid species of Trilocha varians with a Fem‐independent sex determination system. To our surprise, although the sequences of W and Z chromosomes show no homology to each other, a few pairs of homologues are shared by W and Z chromosomes, indicating the W chromosome of both species originated from Z chromosome. In addition, the W chromosome of T. varians lacks Fem, while the W chromosome of B. mori has over 100 copies of Fem. The high‐quality assembly of the W chromosome of B. mori arose the third hypothesis about the origin of Fem: Fem is a chimeric sequence of multiple transposons. More than half of one transcriptional unit of Fem shows a significant homology to RTE‐BovB. Moreover, the Fem piRNA‐producing region could correspond to the boundary of the two transposons, gypsy and satellite DNA. [ABSTRACT FROM AUTHOR]

Tritordeum is the new cereal derived from crosses between the wild barley Hordeum chilense Roem. et Schultz. and either durum or bread wheat, resulting in hexaploid and octoploid tritordeums, respectively. The success of tritordeum as a crop depends on the effectiveness of its breeding programme. In this work, new advanced tritordeum lines are screened for grain carotenoid content and disease susceptibility to analyse the impact of the current breeding strategies and to identify their strengths and putative limitations for future challenges. We conclude that selection for grain carotenoid content, the main strength for the tritordeum commercialization, should be reinforced not only by using the diversity of H. chilense but also incorporating beneficial alleles from durum wheat. Furthermore, genes for stem rust resistance from the A and B wheat genomes must be incorporated into tritordeum breeding programme. Finally, when selecting for threshability, tritordeums without chromosome substitutions should be preferentially selected using a marker‐assisted selection approach. [ABSTRACT FROM AUTHOR]

Summary Routine ABO blood group typing of apparently healthy individuals sporadically uncovers unexplained mixed‐field reactions. Such blood group discrepancies can either result from a haematopoiesis‐confined or body‐wide dispersed chimerism or mosaicism. Taking the distinct clinical consequences of these four different possibilities into account, we explored the responsible cause in nine affected individuals. Genotype analyses revealed that more than three‐quarters were chimaeras (two same‐sex females, four same‐sex males, one sex‐mismatched male), while two were mosaics. Short tandem repeat analyses of buccal swab, hair root and nail DNA suggested a body‐wide involvement in all instances. Moreover, genome‐wide array analyses unveiled that in both mosaic cases the causative genetic defect was a unique copy‐neutral loss of heterozygosity encompassing the entire long arm of chromosome 9. The practical transfusion‐ or transplantation‐associated consequences of such incidental discoveries are well known and therefore easily manageable. Far less appreciated is the fact that such findings also call attention to potential problems that directly ensue from their specific genetic make‐up. In case of chimerism, these are the appearance of seemingly implausible family relationships and pitfalls in forensic testing. In case of mosaicism, they concern with the necessity to delineate innocuous pre‐existent or age‐related from disease‐predisposing and disease‐indicating cell clones. [ABSTRACT FROM AUTHOR]