Cell Rep Med. 2025 Apr 15;6(4):102049. doi: 10.1016/j.xcrm.2025.102049.

ABSTRACT

In this interview for the Cell Reports Medicine 5-year anniversary special issue, Dr. Baloni talks with us about her scientific journey, the importance of mentorship, ongoing challenges and successes in the fields of translational neuroscience and neurodegenerative disease, and the power of systems biology to contribute to clinical and translational research.

PMID:40239622 | DOI:10.1016/j.xcrm.2025.102049

Int J Pediatr Otorhinolaryngol. 2025 Apr 15;193:112358. doi: 10.1016/j.ijporl.2025.112358. Online ahead of print.

ABSTRACT

BACKGROUND: Genetic factors are important causes of congenital hearing loss. To better understand hereditary hearing loss, we performed in-depth clinical and molecular analysis of families with congenital hearing loss and a new disease-related gene, IQGAP3, was identified in this process. This gene encodes a protein that belongs to the IQGAP family which is well known as a GTPase-activating protein involved in various cellular functions. However, there is no research on the relationship between IQGAP3 and the auditory system.

METHOD: This study was conducted at Guangzhou Women and Children's Medical Center and Nantong University from 2019 to 2023 to confirm the relationship between defective IQGAP3 and hearing loss, and further explore the underlying molecular mechanism. We constructed the iqgap3 knockdown zebrafish model, primary mouse inner progenitor cell model and IQGAP3-knockout HEK293T cell line for this research.

RESULT: We found that IQGAP3 deficiency led to abnormal development of the auditory system and impaired auditory function in zebrafish. In vitro studies showed that loss of this gene's function resulted in a 40.29 % reduction in EdU-positive cells and a 44.25 % decrease in Ki67-positive cells in mouse inner ear progenitor cells, indicating reduced proliferation. This can be linked with inhibition of CDC42 enzymatic activity and the blockade of the Wnt-catenin pathway.

CONCLUSION: We identified IQGAP3 as a novel potential causative gene in hereditary hearing loss. Our findings provide important insights into the molecular basis of hereditary hearing loss.

PMID:40239295 | DOI:10.1016/j.ijporl.2025.112358

Comput Biol Med. 2025 Apr 15;191:110185. doi: 10.1016/j.compbiomed.2025.110185. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVE: The Gene Ontology (GO) project has been pivotal in providing a structured framework for characterizing genes and annotating them to specific biological concepts. While traditional gene annotation primarily focuses on mapping genes to GO terms, descriptors of biological concepts, there is a growing need for tools facilitating reverse querying. This paper introduces GOReverseLookup, a novel tool designed to identify over- or underrepresented genes in researcher-defined states of interest (phenotypes), described by sets of GO terms. GOReverseLookup supplements the existing power of Gene Ontology by the possibility of orthologous gene querying across several databases, such as Ensembl and UniProtKB. This combination allows for a more nuanced identification of significant genes across a range of cross-species research contexts.

METHODS: GOReverseLookup queries genes associated with input GO terms. Bundles of GO terms encapsulate user-defined states of interest, e.g., angiogenesis. In the second stage of the analysis, all GO terms associated with each gene are fetched, and finally, the statistical relevance of the genes being involved in one (or all) of the defined states of interests is computed.

RESULTS: The two presented use cases illustrate its utility in discovering genes related to rheumatoid arthritis and genes linked with chronic inflammation and tumorigenesis. In both cases, GOReverseLookup discovered a substantial number of genes significantly associated with the aforementioned states of interest.

CONCLUSIONS: GOReverseLookup proves to be a valuable resource for unraveling the genetic basis of phenotypes, with diverse practical potentials in functional genomics, systems biology, and drug discovery. We anticipate that GOReverseLookup will significantly aid in identifying potential gene targets during the initial research phases.

PMID:40239235 | DOI:10.1016/j.compbiomed.2025.110185

G3 (Bethesda). 2025 Apr 16:jkaf083. doi: 10.1093/g3journal/jkaf083. Online ahead of print.

ABSTRACT

Cassava (Manihot esculenta Grantz) is a vital staple crop for millions of people, particularly in Sub-Saharan Africa, where it is a primary source of food and income. However, cassava production is threatened by several viral diseases, including cassava brown streak disease, which causes severe damage to the edible storage roots. Current cassava varieties in Africa lack effective resistance to this disease, leading to significant crop losses. We investigated the genetic diversity of cassava and identified new sources of resistance to the viruses causing cassava brown streak disease. The cassava line, COL40, from a South American germplasm collection showed broad-spectrum resistance against all known strains of the viruses that cause this disease. To further understand the genetic basis of this resistance, we sequenced the genome of COL40 and produced a high-quality, haplotype-resolved genome assembly. This genomic resource provides new insights into cassava's genetic architecture, particularly in regions associated with disease resistance. The sequence reveals significant structural variation, including transposable elements, inversions, and deletions, which may contribute to the resistance phenotype. The reference genome assembly presented here will provide a valuable genomic resource for studying the cassava brown streak resistance and will help in accelerating breeding efforts to introduce virus resistance into African cassava varieties. By identifying genetic variants linked to resistance, future breeding programs can develop cassava cultivars that are more resilient to viral threats, enhancing food security and livelihoods for smallholder farmers across regions affected by the disease.

PMID:40239025 | DOI:10.1093/g3journal/jkaf083

STAR Protoc. 2025 Apr 15;6(2):103761. doi: 10.1016/j.xpro.2025.103761. Online ahead of print.

ABSTRACT

Transit time is a key in vivo metric of gastrointestinal (GI) motility, which is a physiologic readout of cellular communication within the enteric system. Here, we present a protocol to characterize longitudinal gut motility in mice. We describe steps for transit testing, whole-mount immunostaining, and tissue harvest. We then detail procedures for image processing and manual cell counting. This protocol seeks to minimize inter-trial variability while assessing cellular and molecular features that may underpin motility differences between experimental conditions. For complete details on the use and execution of this protocol, please refer to Frith et al.1.

PMID:40238633 | DOI:10.1016/j.xpro.2025.103761

Langmuir. 2025 Apr 16. doi: 10.1021/acs.langmuir.4c04123. Online ahead of print.

ABSTRACT

Molecular motors and the cytoskeleton perform essential cellular functions by interacting with the cell membrane. Reconstituting the behavior of motor proteins interacting with biological membranes and cytoskeletal filaments within a cell-sized space provides insights into their intracellular functions. A water-in-oil (W/O) emulsion droplet represents an invaluable experimental system because it offers an encapsulated space that mimics the intracellular environment. In this study, we aimed to reconstitute the actomyosin motility on the flat membrane surface of cell-sized W/O droplets using membrane-bound myosin I that anchors to and exerts force on both the cell membrane and actin cytoskeleton. Myosin IC or myosin ID, which binds specifically to the cell membrane phospholipid phosphatidylinositol 4,5-bisphosphate [PI(4,5)P2] together with the actin cytoskeleton, was encapsulated within W/O droplets. Myosin IC and myosin ID caused gliding of actin filaments on the inner bottom membrane of the hemispherical droplet containing PI(4,5)P2, and myosin-driven actin filament movement on the flat membrane surface was quantified. Fast motor myosin ID was more sensitive than slow motor myosin IC to the geometrical conditions and binding manner to the membrane. Therefore, the in-droplet actin filament gliding assay is a useful tool for elucidating the molecular mechanisms underlying cellular events occurring at the cell membrane, which are achieved through the concerted action of myosin and the actin cytoskeleton.

PMID:40238146 | DOI:10.1021/acs.langmuir.4c04123

Virus Genes. 2025 Apr 16. doi: 10.1007/s11262-025-02157-z. Online ahead of print.

ABSTRACT

Maize streak virus (MSV) has four genes: cp, encoding the coat protein; mp, the movement protein; and repA and rep, encoding two distinct replication-associated proteins from an alternatively spliced transcript. These genes play roles in encapsidation, movement, replication, and interactions with the external environment, making them prone to stimuli-driven molecular adaptation. We accomplished selection studies on publicly available curated, recombination-free, complete coding sequences for representative A-strain maize streak virus (MSV-A) cp and mp genes. We found evidence of gene-wide selection in these two MSV genes at specific sites within the genes (cp 1.23% and mp 0.99%). Positively selected sites have amino acids that are 60% hydrophilic and 40% hydrophobic in nature. We found significant evidence of positive selection at branches (cp: 0.76 and mp:1.66%) representing the diversity of MSV-A-strain in South Africa, which is related to the MSV-A-matA isolate (GenBank accession number: AF329881), well disseminated and adapted to the maize plant in sub-Saharan Africa. In the mp gene, selection significantly intensified for the overall diversities of the MSV-A sequences and those more related to the MSV-Mat-A isolate. These findings reveal that despite predominantly undergoing non-diversifying selection, the detectable diversifying positive selection observed in these genes may play a major role in MSV-A host adaptive evolution, ensuring sufficient pathogenicity for onward transmission without killing the host.

PMID:40237943 | DOI:10.1007/s11262-025-02157-z

J Clin Microbiol. 2025 Apr 16:e0189324. doi: 10.1128/jcm.01893-24. Online ahead of print.

ABSTRACT

This study aimed to compare the performance of disk diffusion, gradient test (ETEST), and VITEK 2 (AST-N223, AST-N428, AST-N432 cards) antibiotic susceptibility testing methods with the reference broth microdilution (BMD) for carbapenem susceptibility in OXA-48-like carbapenemase-producing Enterobacterales (CPE). A total of 107 CPE and 142 controls (Enterobacterales that do not produce any type of carbapenemases), all molecularly characterized by whole-genome sequencing, were tested for carbapenem susceptibility using BMD and derivative methods. Essential agreement (EA), categorical agreement (CA), major error, very major error, and bias were evaluated. In the OXA-48-like group, resistance frequencies by BMD for ertapenem, imipenem, and meropenem were 86.9%, 12.1%, and 10.3%, respectively. For OXA-48-like CPE, ETEST showed the highest EA among all methods for meropenem (100/107, 93.5%) and ertapenem (99/107, 92.5%), while EA for VITEK 2 cards were <90%. In contrast, for imipenem, VITEK 2 AST-N428 performed best with an EA of 95/105 (90.5%). CA was higher for ertapenem across all methods (93.5%-98.1%) compared to imipenem (59.8%-81.4%) and meropenem (78.8%-95.3%). The highest CA was achieved with ETEST for ertapenem and meropenem, and with VITEK 2 AST-N223 for imipenem. Significant variability was observed across different tests in resistance frequencies, MICs, EA, and CA for the OXA-48-like group. Ertapenem was the most useful carbapenem for detecting resistance in OXA-48-like CPE across all methods. Laboratories should be aware that susceptibility testing of imipenem leads to more erroneous results compared to the other carbapenems when using derivative methods. Additionally, most derivative methods tend to overcall carbapenem resistance in OXA-48-like CPE.IMPORTANCEOXA-48-like is the most frequent carbapenemase in western Europe, and both its rapid spread and its challenging-to-detect nature are a particular concern for adequate treatment and infection control purposes. Accurate determination of carbapenem minimal inhibitory concentrations (MICs) is of utmost importance, both for the selection of the best therapy and as a marker for carbapenemase detection. However, the performance of derivative susceptibility testing methods is unclear for OXA-48-like isolates. Our study reports on the varying performance of carbapenem susceptibility testing by disk diffusion, gradient test (ETEST), and VITEK 2 in OXA-48-like-producing Enterobacterales. The results of the present study can help to inform about the limitations of current susceptibility testing methods and serve to improve MIC determination in these challenging isolates.

PMID:40237520 | DOI:10.1128/jcm.01893-24

Genetics. 2025 Apr 16:iyaf073. doi: 10.1093/genetics/iyaf073. Online ahead of print.

ABSTRACT

Heritable fitness differences between individuals are the currency of evolution but can be challenging to quantify with precision. A slight probabilistic fitness advantage to one relatively healthy individual over another is often too subtle to detect in a single generation. For this reason, we have developed an assay to quantify and compare heritable fitness traits in nematodes by allowing their differences to amplify during unrestricted exponential population growth over multiple generations. This method employs continuous imaging as populations expand, and an automated program to detect the time of resource exhaustion. Expanding on our earlier applications, we here describe, motivate, and validate the method's experimental parameters and introduce a new R package to facilitate image processing and statistical analyses. We demonstrate the utility of this method by using it to identify natural differences in mutagen sensitivity between wild isolates of C. elegans. This tool is immediately adaptable to any strain of C. elegans or similar nematode and can be used to quantify fitness differences in the face of any experimental condition that can be created on a petri dish.

PMID:40237334 | DOI:10.1093/genetics/iyaf073

JGH Open. 2025 Apr 15;9(4):e70157. doi: 10.1002/jgh3.70157. eCollection 2025 Apr.

ABSTRACT

CASE PRESENTATION: In Western Europe, intestinal tuberculosis is a rare differential diagnosis for Crohn's disease. In this report, we present a case of intestinal tuberculosis in a 59-year-old female initially suspected of Crohn's disease with persistent abdominal pain and diarrhea after appendectomy.

CONCLUSION: This case highlights the need for TB culture in patients with positive IGRA and suspected Crohn's disease.

PMID:40236937 | PMC:PMC11997620 | DOI:10.1002/jgh3.70157

Imeta. 2025 Mar 5;4(2):e70009. doi: 10.1002/imt2.70009. eCollection 2025 Apr.

ABSTRACT

Paralogous transcription factors (TFs) frequently recognize highly similar DNA motifs. Homodimerization can help distinguish them according to their different dimeric configurations. Here, by studying R2R3-MYB TFs, we show that homodimerization can also directly change the recognized DNA motifs to distinguish between similar TFs. By high-throughput SELEX, we profiled the specificity landscape for 40 R2R3-MYBs of subfamily VIII and curated 833 motif models. The dimeric models show that homodimeric binding has evoked specificity changes for AtMYBs. Focusing on AtMYB2 as an example, we show that homodimerization has modified its specificity and allowed it to recognize additional cis-regulatory sequences that are different from the closely related CCWAA-box AtMYBs and are unique among all AtMYBs. Genomic sites described by the modified dimeric specificities of AtMYB2 are conserved in evolution and involved in AtMYB2-specific transcriptional activation. Collectively, this study provides rich data on sequence preferences of VIII R2R3-MYBs and suggests an alternative mechanism that guides closely related TFs to respective cis-regulatory sites.

PMID:40236784 | PMC:PMC11995187 | DOI:10.1002/imt2.70009

Synth Syst Biotechnol. 2025 Mar 14;10(2):677-695. doi: 10.1016/j.synbio.2025.03.006. eCollection 2025 Jun.

ABSTRACT

DNA storage, characterized by its durability, data density, and cost-effectiveness, is a promising solution for managing the increasing data volumes in healthcare. This review explores state-of-the-art DNA storage technologies, and provides insights into designing a DNA storage system tailored for medical cold data. We anticipate that a practical approach for medical cold data storage will involve establishing regional, in vitro DNA storage centers that can serve multiple hospitals. The immediacy of DNA storage for medical data hinges on the development of novel, high-density, specialized coding methods. Established commercial techniques, such as DNA chemical synthesis and next-generation sequencing (NGS), along with mixed drying with alkaline salts and refined Polymerase Chain Reaction (PCR), potentially represent the optimal options for data writing, reading, storage, and accessing, respectively. Data security could be promised by the integration of traditional digital encryption and DNA steganography. Although breakthrough developments like artificial nucleotides and DNA nanostructures show potential, they remain in the laboratory research phase. In conclusion, DNA storage is a viable preservation strategy for medical cold data in the near future.

PMID:40235856 | PMC:PMC11999466 | DOI:10.1016/j.synbio.2025.03.006

Ecol Evol. 2025 Apr 15;15(4):e71262. doi: 10.1002/ece3.71262. eCollection 2025 Apr.

ABSTRACT

With the increasing interest in whole genome sequencing of eukaryotes, it is becoming evident that selecting the most suitable high molecular weight DNA extraction method is crucial for maximizing the benefits of long-read technologies. However, the DNA of many species cannot be processed immediately at the sampling site due to the remoteness of the location, necessitating tissue preservation that may affect DNA fragment size. This study aimed to identify the most suitable combination of four tissue preservation approaches and six DNA extraction methods to ensure high molecular weight DNA. A single Peltodoris atromaculata (Nudibranchia) specimen was sliced into ∼30 mg sub-samples, ensuring consistency across 24 preservation-extraction combinations processed in triplicates. Samples were either stored at 4°C, dried at room temperature, flash-frozen in liquid nitrogen, or preserved in ethanol and stored at -20°C. Afterward, they were processed using five commercially available kits specific for high molecular weight DNA extraction, as well as a custom DNA extraction protocol. Three aspects of DNA quality were evaluated: total yield, fragment size distribution, and availability of DNA for amplification. Most preservation-extraction combinations yielded optimal results in only some of the three DNA quality aspects. We identified six combinations suitable for long-read sequencing: a custom CTAB-based extraction protocol applied to frozen samples, Wizard (Promega) and Nanobind (PacBio) kits for both frozen and ethanol-preserved samples, and the ethanol preservation paired with Monarch (NEB) kits. The suitability of the six selected combinations was confirmed by PacBio sequencing, producing a total yield of 3.6 Gbp (3.2x estimated genome coverage). The results indicate that the success of high molecular weight DNA extractions is influenced by preservation methods. Although tested on nudibranchs, these findings are highly useful for genomic studies of other organisms, which may need to be preserved in remote locations before being transported to the laboratory for processing.

PMID:40235721 | PMC:PMC11997370 | DOI:10.1002/ece3.71262

Genome Biol. 2025 Apr 15;26(1):97. doi: 10.1186/s13059-025-03572-z.

ABSTRACT

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering. Many different VEPs have been released, and there is tremendous variability in their underlying algorithms, outputs, and the ways in which the methodologies and predictions are shared. This leads to considerable difficulties for users trying to navigate the selection and application of VEPs. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs.

PMID:40234898 | DOI:10.1186/s13059-025-03572-z

Sci Rep. 2025 Apr 15;15(1):12884. doi: 10.1038/s41598-025-97366-9.

ABSTRACT

Bioluminescence imaging (BLI) is widely used in preclinical biomedical research for noninvasive tracking of cell populations and biochemical events in vivo. With recent improvements in BLI brightness from the engineering of bioluminescent enzymes (luciferases) and substrates (luciferins), optimizing luciferin formulations to maximize delivery and minimize toxicity becomes important, especially for marine coelenterazine-type luciferins with limited solubility. Here, we complete the characterization of a previously reported NanoLuc substrate, designated cephalofurimazine-9 (CFz9), and optimize its formulation with water-soluble excipients. We report a pH-controlled formulation of CFz9 enabling high-dose delivery to achieve peak brightness comparable to other furimazine analogs both inside and outside the brain while reducing toxicity. Thus, an optimized CFz9 formulation improves the performance and tolerability of whole-animal BLI with NanoLuc-based reporters.

PMID:40234651 | DOI:10.1038/s41598-025-97366-9

Mol Neurobiol. 2025 Apr 15. doi: 10.1007/s12035-025-04901-w. Online ahead of print.

ABSTRACT

GPAM, a key enzyme for lipid synthesis, is predominantly expressed in astrocytes (ASTs), where it facilitates lipid supply for myelin formation. Our previous studies identified GPAM as a novel causative gene for cerebral palsy (CP) and led to the development of a CP mouse model with GPAM deficiency (Gpam-/-). The model closely recapitulated the clinical phenotype of children with CP, due to the restricted proliferation of ASTs in the brain, reduced the amount of lipid, thinner brain white matter, and myelin dysplasia. The mammalian target of rapamycin (mTOR) pathway plays an important role in cell proliferation and lipid synthesis. Cytosolic arginine sensor (CASTOR1) interacts with GATOR2 to regulate mTOR complex 1 (mTORC1). Targeted degradation of CASTOR1 can activate the mTOR pathway. However, it remains unclear the involvement of mTOR pathway in neurological diseases such as CP. In this study, we demonstrated that the mTOR pathway was inhibited in Gpam-/- mice. Notably, CASTOR1 could regulate the activity of mTOR/S6K pathway, functioning as a negative upstream regulator. Furthermore, inhibition of CASTOR1 upregulated mTOR/S6K signaling, promoting astrocyte proliferation and myelination, which in turn enhanced motor function in the Gpam-/--induced CP mouse model. Collectively, these findings reveal the role of astrocytic mTOR in the pathogenesis of CP mice, broaden the therapeutic strategies, and provide a promising candidate target for CP treatment.

PMID:40234290 | DOI:10.1007/s12035-025-04901-w

Ann Oncol. 2025 Apr 14:S0923-7534(25)00131-0. doi: 10.1016/j.annonc.2025.03.020. Online ahead of print.

NO ABSTRACT

PMID:40234125 | DOI:10.1016/j.annonc.2025.03.020

Cell Rep Methods. 2025 Apr 8:101027. doi: 10.1016/j.crmeth.2025.101027. Online ahead of print.

ABSTRACT

Mitochondrial stress arises from a variety of sources, including mutations to mitochondrial DNA, the generation of reactive oxygen species, and an insufficient supply of oxygen or fuel. Mitochondrial stress induces a range of dedicated responses that repair damage and restore mitochondrial health. However, a systematic characterization of transcriptional and metabolic signatures induced by distinct types of mitochondrial stress is lacking. Here, we defined how primary human fibroblasts respond to a panel of mitochondrial inhibitors to trigger adaptive stress responses. Using metabolomic and transcriptomic analyses, we established integrated signatures of mitochondrial stress. We developed a tool, stress quantification using integrated datasets (SQUID), to deconvolute mitochondrial stress signatures from existing datasets. Using SQUID, we profiled mitochondrial stress in The Cancer Genome Atlas (TCGA) PanCancer Atlas, identifying a signature of pyruvate import deficiency in IDH1-mutant glioma. Thus, this study defines a tool to identify specific mitochondrial stress signatures, which may be applied to a range of systems.

PMID:40233762 | DOI:10.1016/j.crmeth.2025.101027

ACS Appl Mater Interfaces. 2025 Apr 15. doi: 10.1021/acsami.5c02901. Online ahead of print.

ABSTRACT

Optical phase imaging has become a pivotal tool in biomedical research, enabling label-free visualization of transparent specimens. Traditional optical phase imaging techniques, such as Zernike phase contrast and differential interference contrast microscopy, fall short of providing quantitative phase information. Digital holographic microscopy (DHM) addresses this limitation by offering precise phase measurements; however, off-axis configurations, particularly Mach-Zehnder and Michelson-based setups, are often hindered by environmental susceptibility and bulky optical components due to their separate reference and object beam paths. In this work, we have developed a meta-based interferometric quantitative phase imaging system using a common-path off-axis DHM configuration. A meta-biprism, featuring two opposite gradient phases created using GaN nanopillars selected for their low loss and durability, serves as a compact and efficient beam splitter. Our system effectively captures the complex wavefronts of samples, enabling the retrieval of quantitative phase information, which we demonstrate using standard resolution phase targets and human lung cell lines. Additionally, our system exhibits enhanced temporal phase stability compared to conventional off-axis DHM configurations, reducing phase fluctuations over extended measurement periods. These results not only underline the potential of metasurfaces in advancing the capabilities of quantitative phase imaging but also promise significant advancements in biomedical imaging and diagnostics.

PMID:40233216 | DOI:10.1021/acsami.5c02901

PLoS Genet. 2025 Apr 15;21(4):e1011661. doi: 10.1371/journal.pgen.1011661. Online ahead of print.

ABSTRACT

Most of our understanding of the fundamental processes of mutation and recombination stems from a handful of disparate model organisms and pedigree studies of mammals, with little known about other vertebrates. To gain a broader comparative perspective, we focused on the zebra finch (Taeniopygia castanotis), which, like other birds, differs from mammals in its karyotype (which includes many micro-chromosomes), in the mechanism by which recombination is directed to the genome, and in aspects of ontogenesis. We collected genome sequences from three generation pedigrees that provide information about 80 meioses, inferring 202 single-point de novo mutations, 1,088 crossovers, and 275 non-crossovers. On that basis, we estimated a sex-averaged mutation rate of 5.0 × 10-9 per base pair per generation, on par with mammals that have a similar generation time (~2-3 years). Also as in mammals, we found a paternal germline mutation bias at later stages of gametogenesis (of 1.7:1) but no discernible difference between sexes in early development. Examining recombination patterns, we found that the sex-averaged crossover rate on macro-chromosomes is 0.93 cM/Mb, with a pronounced enrichment of crossovers near telomeres. In contrast, non-crossover rates are more uniformly distributed. On micro-chromosomes, sex-averaged crossover rates are substantially higher (3.96 cM/Mb), in accordance with crossover homeostasis, and both crossover and non-crossover events are more uniformly distributed. At a finer scale, recombination events overlap CpG islands more often than expected by chance, as expected in the absence of PRDM9. Estimates of the degree of GC-biased gene conversion (59%), the mean non-crossover conversion tract length (~32 bp), and the non-crossover-to-crossover ratio (5.4:1) are all comparable to those reported in primates and mice. Therefore, properties of germline mutation and recombination resolutions remain similar over large phylogenetic distances.

PMID:40233115 | DOI:10.1371/journal.pgen.1011661