Genetics最新文献

There's never been a better time to be a STEM educator. 现在是成为一名STEM教育工作者的最佳时机。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-30 DOI: 10.1093/genetics/iyaf090

Jason Williams

{"title":"There's never been a better time to be a STEM educator.","authors":"Jason Williams","doi":"10.1093/genetics/iyaf090","DOIUrl":"https://doi.org/10.1093/genetics/iyaf090","url":null,"abstract":"From its current vantage point, the future of US STEM education may appear bleak. Yet STEM education's strength and importance have never been greater, and evidence points to a bright future. This case can be made by drawing on the United State's identity as the world's most entrepreneurial nation. The optimistic outlook for STEM education is framed here through the lens of product-market fit-an economics concept describing how well-aligned products and market forces can generate self-sustaining demand. An analysis of these forces suggests that US STEM education has not only achieved this fit but surpassed it. The nation's strategic interests drive unmet demand for a well-prepared STEM workforce. Course-based research and inquiry-based teaching offer a superior educational model that can scale nationally. Life sciences, in particular, can combine broad student reach with low-cost DNA sequencing to create a multidisciplinary platform for education and research. As a grateful recipient of the Genetics Society of America's Elizabeth W. Jones Award, I reflect on how the Cold Spring Harbor Laboratory DNA Learning Center (DNALC) has operated at the intersection of these forces-developing infrastructure and approaches that are widely adopted and poised for expanded distribution. Meeting the nation's urgent need requires bold investment and broad engagement. By seizing this moment, we can make now the best time to be a STEM educator.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The bur1-107 mutant delays G1/S transition and alleviates hydroxyurea sensitivity in checkpoint-deficient yeast. bur1-107突变体延迟G1/S转变，减轻了检查点缺陷酵母的羟基脲敏感性。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-30 DOI: 10.1093/genetics/iyaf104

Stefany Cristine Rodrigues da Silva, Francisco Meirelles Bastos de Oliveira

引用次数: 0

Correction to: How the concentric organization of the nucleolus and chromatin ensures accuracy of ribosome biogenesis and drives transport. 更正：核仁和染色质的同心组织如何确保核糖体生物发生的准确性并驱动运输。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-26 DOI: 10.1093/genetics/iyaf093

引用次数: 0

Gut length evolved under sexual conflict in Lake Malawi cichlids. 马拉维湖慈鲷的肠长在性冲突中进化。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-26 DOI: 10.1093/genetics/iyaf102

Aldo Carmona Baez, Patrick J Ciccotto, Emily C Moore, Erin N Peterson, Melissa S Lamm, Natalie B Roberts, Kaitlin P Coyle, M Kaitlyn Barker, Ethan Dickson, Amanda N Cass, Guilherme S Pereira, Zhao-Bang Zeng, Rafael F Guerrero, Reade B Roberts

{"title":"Gut length evolved under sexual conflict in Lake Malawi cichlids.","authors":"Aldo Carmona Baez, Patrick J Ciccotto, Emily C Moore, Erin N Peterson, Melissa S Lamm, Natalie B Roberts, Kaitlin P Coyle, M Kaitlyn Barker, Ethan Dickson, Amanda N Cass, Guilherme S Pereira, Zhao-Bang Zeng, Rafael F Guerrero, Reade B Roberts","doi":"10.1093/genetics/iyaf102","DOIUrl":"https://doi.org/10.1093/genetics/iyaf102","url":null,"abstract":"Variation in gastrointestinal morphology is associated with dietary specialization across the animal kingdom. Gut length generally correlates with trophic level, and increased gut length in herbivores is a classic example of adaptation to cope with diets having a lower nutrient content and a higher proportion of refractory material. However, the genetic basis of gut length variation remains largely unstudied, partly due to the inaccessibility and plasticity of the gut tissue, as well as the lack of dietary diversity within traditional model organisms relative to that observed among species belonging to different trophic levels. Here, we confirm the genetic basis of gut length variation among recently evolved Lake Malawi cichlid fish species with different dietary adaptations. We then produce interspecific, inter-trophic-level hybrids to map evolved differences in intestinal length in an F2 mapping cross between Metriaclima mbenjii, an omnivore with a relatively long gut, and Aulonocara koningsi, a carnivore with a relatively short gut. We identify numerous candidate quantitative trait loci for evolved differences in intestinal length. These quantitative trait loci are predominantly sex-specific, supporting an evolutionary history of sexual conflicts for the gut. We also identify epistatic interactions potentially associated with canalization and the maintenance of cryptic variation in the cichlid adaptive radiation. Overall, our results suggest a complex, polygenic evolution of gut length variation associated with trophic level differences among cichlids, as well as conflicts and interactions that may be involved in evolutionary processes underlying other traits in cichlids.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evolutionary rescue by aneuploidy in tumors exposed to anti-cancer drugs. 暴露于抗癌药物的肿瘤非整倍体的进化拯救。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-22 DOI: 10.1093/genetics/iyaf098

Remus Stana, Uri Ben-David, Daniel B Weissman, Yoav Ram

{"title":"Evolutionary rescue by aneuploidy in tumors exposed to anti-cancer drugs.","authors":"Remus Stana, Uri Ben-David, Daniel B Weissman, Yoav Ram","doi":"10.1093/genetics/iyaf098","DOIUrl":"https://doi.org/10.1093/genetics/iyaf098","url":null,"abstract":"Evolutionary rescue occurs when a population, facing a sudden environmental change that would otherwise lead to extinction, adapts through beneficial mutations, allowing it to recover and persist. A prime example of evolutionary rescue is the ability of cancer to survive exposure to treatment. One evolutionary mechanism by which a population of cancer cells can adapt to chemotherapy is aneuploidy. Aneuploid cancer cells can be more fit in an environment altered by anti-cancer drugs, in part because aneuploidy may disrupt the pathways targeted by the drugs. Indeed, aneuploidy is highly prevalent in tumors, and some anti-cancer drugs fight cancer by increasing chromosomal instability. Here, we model the impact of aneuploidy on the fate of a population of cancer cells. We use multi-type branching processes to approximate the probability that a tumor survives drug treatment as a function of the initial tumor size, the rates at which aneuploidy and other beneficial mutations occur, and the growth rates of the drug-sensitive and drug-resistant cells. We also investigate the effect of the pre-existent aneuploid cells on the probability of evolutionary rescue. Finally, we estimate the tumor's mean recurrence time to revert to its initial size following treatment and evolutionary rescue. We propose that aneuploidy can play an essential role in the relapse of smaller secondary tumors.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Interpreting SNP heritability in admixed populations. 在混合人群中解释SNP遗传力。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-22 DOI: 10.1093/genetics/iyaf100

Jinguo Huang, Nicole Kleman, Saonli Basu, Mark D Shriver, Arslan A Zaidi

{"title":"Interpreting SNP heritability in admixed populations.","authors":"Jinguo Huang, Nicole Kleman, Saonli Basu, Mark D Shriver, Arslan A Zaidi","doi":"10.1093/genetics/iyaf100","DOIUrl":"10.1093/genetics/iyaf100","url":null,"abstract":"SNP heritability (h2snp) is defined as the proportion of phenotypic variance explained by genotyped SNPs and is believed to be a lower bound of heritability (h), being equal to it if all causal variants are genotyped. Despite the simple intuition behind h2snp, its interpretation and equivalence to h2 is unclear, particularly in the presence of admixture and assortative mating. Here we use analytical theory and simulations to describe the behavior of h2 and three widely used random-effect estimators of h2snp -- Genome-wide restricted maximum likelihood, Haseman-Elston regression, and LD score regression -- in admixed populations. We show that h2snp estimates can be biased in admixed populations, even if all causal variants are genotyped and in the absence of confounding due to shared environment. This is largely because admixture generates directional LD, which contributes to the genetic variance, and therefore to heritability. Random-effect estimators of h2snp, because they assume that SNP effects are independent, do not capture the contribution, which can be positive or negative depending on the genetic architecture, leading to under- or over-estimates of h2snp relative to h2. For the same reason, estimates of local ancestry heritability (ĥ2γ) are also biased in the presence of directional LD. We describe this bias in ĥ2snp and ĥ2γ as a function of admixture history and the genetic architecture of the trait, clarifying their interpretation and implication for genome-wide association studies and polygenic prediction in admixed populations.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MutSgamma promotes meiotic recombination and homolog pairing in mouse spermatocytes. MutSgamma促进小鼠精母细胞减数分裂重组和同源配对。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-22 DOI: 10.1093/genetics/iyaf099

Melissa Frasca, Lakshmi Paniker, Rhea Kang, Parijat Chakraborty, Aastha Pandey, Jessica LoPresti, Francesca Cole

{"title":"MutSgamma promotes meiotic recombination and homolog pairing in mouse spermatocytes.","authors":"Melissa Frasca, Lakshmi Paniker, Rhea Kang, Parijat Chakraborty, Aastha Pandey, Jessica LoPresti, Francesca Cole","doi":"10.1093/genetics/iyaf099","DOIUrl":"https://doi.org/10.1093/genetics/iyaf099","url":null,"abstract":"DNA repair by homologous recombination is required for parental chromosomes (homologs) to accurately segregate during mammalian meiosis. Meiotic recombination promotes but also relies upon pairing between homologs. This mutual dependence and the differential reliance between recombination and pairing in well-studied organisms has been difficult to deconstruct in the mammalian context. In budding yeast, MutSgamma, a heterodimer between MSH4 and MSH5 promotes crossover-specific recombination by protecting precursors, and in many organisms plays roles in pairing and synaptonemal complex formation. We use recombination and cytological assays to infer the role of MutSgamma in mouse spermatocytes. We find in two alleles of Msh5 - a null and one bearing a mutation in its ATPase domain, that spermatocytes are severely compromised for recombination producing only a small fraction of noncrossovers. However, they are more proficient in interhomolog pairing particularly on the longer chromosomes than spermatocytes lacking meiotic recombination entirely. We propose MutSgamma plays an earlier role in mouse than in budding yeast to stabilize D-loops upstream of all interhomolog recombination. Further, that nascent recombination interactions can promote successful interhomolog pairing despite not completing recombination.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Enabling data-driven discoveries in evolutionary genetics and genomics. 在进化遗传学和基因组学中实现数据驱动的发现。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-20 DOI: 10.1093/genetics/iyaf084

Sudhir Kumar

引用次数: 0

A rapid accurate approach to inferring pedigrees in endogamous populations. 一种快速准确地推断内婚制种群谱系的方法。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-20 DOI: 10.1093/genetics/iyaf094

Cole M Williams, Brooke A Scelza, Sarah D Slack, Neus Font-Porterias, Dana R Al-Hindi, Rasika A Mathias, Harold Watson, Kathleen C Barnes, Ethan Lange, Randi K Johnson, Christopher R Gignoux, Sohini Ramachandran, Brenna M Henn

{"title":"A rapid accurate approach to inferring pedigrees in endogamous populations.","authors":"Cole M Williams, Brooke A Scelza, Sarah D Slack, Neus Font-Porterias, Dana R Al-Hindi, Rasika A Mathias, Harold Watson, Kathleen C Barnes, Ethan Lange, Randi K Johnson, Christopher R Gignoux, Sohini Ramachandran, Brenna M Henn","doi":"10.1093/genetics/iyaf094","DOIUrl":"https://doi.org/10.1093/genetics/iyaf094","url":null,"abstract":"Accurate reconstruction of pedigrees from genetic data remains a challenging problem. Many relationship categories (e.g. half-sibships versus avuncular) can be difficult to distinguish without external information. Pedigree inference algorithms are often trained on European-descent families in urban locations. Thus, existing methods tend to perform poorly in endogamous populations for which there may be reticulations within the pedigrees and elevated haplotype sharing. We present a simple, rapid algorithm which initially uses only high-confidence first-degree relationships to seed a machine learning step based on summary statistics of identity-by-descent (IBD) sharing. One of these statistics, our ``haplotype score'', is novel and can be used to: (1) distinguish half-sibling pairs from avuncular or grandparent-grandchildren pairs; and (2) assign individuals to ancestor versus descendant generation. We test our approach in a sample of ∼700 individuals from northern Namibia, sampled from an endogamous population called the Himba. Due to a culture of concurrent relationships in the Himba, there is a high proportion of half-sibships. We accurately identify first through fourth-degree relationships and distinguish between various second-degree relationships: half-sibships, avuncular pairs, and grandparent-grandchildren. We further validate our approach in a second African-descent dataset, the Barbados Asthma Genetics Study (BAGS), and a European-descent founder population from Quebec. Accurate reconstruction of relatives facilitates estimation of allele frequencies, tracing allele trajectories, improved phasing, heritability and other population genomic questions.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Quantitative Resolution of Cell Fate in the Early Embryogenesis of Caenorhabditis elegans. 秀丽隐杆线虫早期胚胎发生过程中细胞命运的定量分析。

IF 3.3 3区生物学

Genetics Pub Date : 2025-05-20 DOI: 10.1093/genetics/iyaf095

Ruiqi Xiong, Yang Su, Mengchao Yao, Zefei Liu, Jie Lu, Yong-Cong Chen, Ping Ao

{"title":"Quantitative Resolution of Cell Fate in the Early Embryogenesis of Caenorhabditis elegans.","authors":"Ruiqi Xiong, Yang Su, Mengchao Yao, Zefei Liu, Jie Lu, Yong-Cong Chen, Ping Ao","doi":"10.1093/genetics/iyaf095","DOIUrl":"https://doi.org/10.1093/genetics/iyaf095","url":null,"abstract":"The nematode Caenorhabditis elegans exhibits an invariant cell lineage during its development, where the gene-molecular network that regulates the development is crucial for the biological process. While there are many molecular cell atlases describing the phenomena and key molecules involved in cell transformation, the underlying mechanisms from a systems biology perspective have received less attention. Based on an endogenous molecular-cellular theory that relates the molecular mechanisms to biological phenotypes, we constructed a model of the core endogenous network to describe the early stages of embryonic development of the C. elegans. Different cell types and intermediate cell states during development from zygotes to founder cells correspond to the steady states of the network as a nonlinear stochastic dynamical system. Connections between steady states form a topological landscape that encompasses known developmental lineage trajectories. By regulating the expression of agents in the network, we quantitatively simulated the effects of the Wnt and Notch signaling pathway on cell fate transitions and predicted the possible trajectories of transdifferentiation of the AB cell across the lineage. The success of the current study may help advance our understanding of the fundamental principles of developmental biology and cell fate determination, offering an effective tool for the quantitative analysis of cellular processes.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0