Genetics最新文献_第9页

Posttranscriptional regulation of the T-box gene midline via the 3'UTR in Drosophila is complex and cell- and tissue-dependent. 果蝇T-box基因中线通过3'UTR的转录后调控是复杂的，并依赖于细胞和组织。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae087

Kalpana Makhijani, Jordan Mar, Ivana Gaziova, Krishna Moorthi Bhat

{"title":"Posttranscriptional regulation of the T-box gene midline via the 3'UTR in Drosophila is complex and cell- and tissue-dependent.","authors":"Kalpana Makhijani, Jordan Mar, Ivana Gaziova, Krishna Moorthi Bhat","doi":"10.1093/genetics/iyae087","DOIUrl":"10.1093/genetics/iyae087","url":null,"abstract":"The T-box (Tbx) proteins have a 180-230 amino acid DNA-binding domain, first reported in the Brachyury (T) protein. They are highly conserved among metazoans. They regulate a multitude of cellular functions in development and disease. Here, we report posttranscriptional and translational regulation of midline (mid), a Tbx member in Drosophila. We found that the 3'UTR of mid has mRNA degradation elements and AT-rich sequences. In Schneider S2 cells, mid-mRNA could be detected only when the transgene was without the 3'UTR. Similarly, the 3'UTR linked to the Renilla luciferase reporter significantly reduced the activity of the Luciferase, whereas deleting only the degradation elements from the 3'UTR resulted in reduced activity, but not as much. Overexpression of mid in MP2, an embryonic neuroblast, showed no significant difference in the levels of mid-mRNA between the 2 transgenes, with and without the 3'UTR, indicating the absence of posttranscriptional regulation of mid in MP2. Moreover, while elevated mid-RNA was detected in MP2 in nearly all hemisegments, only a fifth of those hemisegments had elevated levels of the protein. Overexpression of the 2 transgenes resulted in MP2-lineage defects at about the same frequency. These results indicate a translational/posttranslational regulation of mid in MP2. The regulation of ectopically expressed mid in the wing imaginal disc was complex. In the wing disc, where mid is not expressed, the ectopic expression of the transgene lacking the 3'UTR had a higher level of mid-RNA and the protein had a stronger phenotypic effect. These results indicate that the 3'UTR can subject mid-mRNA to degradation in a cell- and tissue-specific manner. We further report a balancer-mediated transgenerational modifier effect on the expression and gain of function effects of the 2 transgenes.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141156763","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

Somatic epigenetic drift during shoot branching: a cell lineage-based model. 嫩枝分化过程中的体细胞表观遗传漂移：基于细胞系的模型

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae091

Yifan Chen, Agata Burian, Frank Johannes

{"title":"Somatic epigenetic drift during shoot branching: a cell lineage-based model.","authors":"Yifan Chen, Agata Burian, Frank Johannes","doi":"10.1093/genetics/iyae091","DOIUrl":"10.1093/genetics/iyae091","url":null,"abstract":"Plant architecture is shaped by the production of new organs, most of which emerge postembryonically. This process includes the formation of new lateral branches along existing shoots. Current evidence supports a detached-meristem model as the cellular basis of lateral shoot initiation. In this model, a small number of undifferentiated cells are sampled from the periphery of the shoot apical meristem (SAM) to act as precursors for axillary buds, which eventually develop into new shoots. Repeated branching thus creates cellular bottlenecks (i.e. somatic drift) that affect how de novo (epi)genetic mutations propagate through the plant body during development. Somatic drift could be particularly relevant for stochastic DNA methylation gains and losses (i.e. spontaneous epimutations), as they have been shown to arise rapidly with each cell division. Here, we formalize a special case of the detached-meristem model, where precursor cells are randomly sampled from the SAM periphery in a way that maximizes cell lineage independence. We show that somatic drift during repeated branching gives rise to a mixture of cellular phylogenies within the SAM over time. This process is dependent on the number of branch points, the strength of drift as well as the epimutation rate. Our model predicts that cell-to-cell DNA methylation heterogeneity in the SAM converges to nonzero states during development, suggesting that epigenetic variation is an inherent property of the SAM cell population. Our insights have direct implications for empirical studies of somatic (epi)genomic diversity in long-lived perennial and clonal species using bulk or single-cell sequencing approaches.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162795","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

Selection leads to false inferences of introgression using popular methods. 使用流行的方法，选择会导致错误的引种推断。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae089

Megan L Smith, Matthew W Hahn

{"title":"Selection leads to false inferences of introgression using popular methods.","authors":"Megan L Smith, Matthew W Hahn","doi":"10.1093/genetics/iyae089","DOIUrl":"10.1093/genetics/iyae089","url":null,"abstract":"Detecting introgression between closely related populations or species is a fundamental objective in evolutionary biology. Existing methods for detecting migration and inferring migration rates from population genetic data often assume a neutral model of evolution. Growing evidence of the pervasive impact of selection on large portions of the genome across diverse taxa suggests that this assumption is unrealistic in most empirical systems. Further, ignoring selection has previously been shown to negatively impact demographic inferences (e.g. of population size histories). However, the impacts of biologically realistic selection on inferences of migration remain poorly explored. Here, we simulate data under models of background selection, selective sweeps, balancing selection, and adaptive introgression. We show that ignoring selection sometimes leads to false inferences of migration in popularly used methods that rely on the site frequency spectrum. Specifically, balancing selection and some models of background selection result in the rejection of isolation-only models in favor of isolation-with-migration models and lead to elevated estimates of migration rates. BPP, a method that analyzes sequence data directly, showed false positives for all conditions at recent divergence times, but balancing selection also led to false positives at medium-divergence times. Our results suggest that such methods may be unreliable in some empirical systems, such that new methods that are robust to selection need to be developed.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141156796","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

Caenorhabditis elegans Hedgehog-related proteins are tissue- and substructure-specific components of the cuticle and precuticle. elegans 刺猬相关蛋白是角质层和前角质层的组织和亚结构特异性成分。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae081

Nicholas D Serra, Chelsea B Darwin, Meera V Sundaram

{"title":"Caenorhabditis elegans Hedgehog-related proteins are tissue- and substructure-specific components of the cuticle and precuticle.","authors":"Nicholas D Serra, Chelsea B Darwin, Meera V Sundaram","doi":"10.1093/genetics/iyae081","DOIUrl":"10.1093/genetics/iyae081","url":null,"abstract":"In Caenorhabditis elegans, expanded families of divergent Hedgehog-related and patched-related proteins promote numerous processes ranging from epithelial and sense organ development to pathogen responses to cuticle shedding during the molt cycle. The molecular functions of these proteins have been mysterious since nematodes lack a canonical Hedgehog signaling pathway. Here we show that Hedgehog-related proteins are components of the cuticle and precuticle apical extracellular matrices that coat, shape, and protect external epithelia. Of four Hedgehog-related proteins imaged, two (GRL-2 and GRL-18) stably associated with the cuticles of specific tubes and two (GRL-7 and WRT-10) labeled precuticle substructures such as furrows or alae. We found that wrt-10 mutations disrupt cuticle alae ridges, consistent with a structural role in matrix organization. We hypothesize that most nematode Hedgehog-related proteins are apical extracellular matrix components, a model that could explain many of the reported functions for this family. These results highlight ancient connections between Hedgehog proteins and the extracellular matrix and suggest that any signaling roles of C. elegans Hedgehog-related proteins will be intimately related to their matrix association.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Radio-miRs: a comprehensive view of radioresistance-related microRNAs. Radio-miRs：放射抗性相关 microRNAs 的全貌。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae097

Abraham Pedroza-Torres, Sandra L Romero-Córdoba, Sarita Montaño, Oscar Peralta-Zaragoza, Dora Emma Vélez-Uriza, Cristian Arriaga-Canon, Xiadani Guajardo-Barreto, Diana Bautista-Sánchez, Rodrigo Sosa-León, Olivia Hernández-González, José Díaz-Chávez, Rosa María Alvarez-Gómez, Luis A Herrera

{"title":"Radio-miRs: a comprehensive view of radioresistance-related microRNAs.","authors":"Abraham Pedroza-Torres, Sandra L Romero-Córdoba, Sarita Montaño, Oscar Peralta-Zaragoza, Dora Emma Vélez-Uriza, Cristian Arriaga-Canon, Xiadani Guajardo-Barreto, Diana Bautista-Sánchez, Rodrigo Sosa-León, Olivia Hernández-González, José Díaz-Chávez, Rosa María Alvarez-Gómez, Luis A Herrera","doi":"10.1093/genetics/iyae097","DOIUrl":"10.1093/genetics/iyae097","url":null,"abstract":"Radiotherapy is a key treatment option for a wide variety of human tumors, employed either alone or alongside with other therapeutic interventions. Radiotherapy uses high-energy particles to destroy tumor cells, blocking their ability to divide and proliferate. The effectiveness of radiotherapy is due to genetic and epigenetic factors that determine how tumor cells respond to ionizing radiation. These factors contribute to the establishment of resistance to radiotherapy, which increases the risk of poor clinical prognosis of patients. Although the mechanisms by which tumor cells induce radioresistance are unclear, evidence points out several contributing factors including the overexpression of DNA repair systems, increased levels of reactive oxygen species, alterations in the tumor microenvironment, and enrichment of cancer stem cell populations. In this context, dysregulation of microRNAs or miRNAs, critical regulators of gene expression, may influence how tumors respond to radiation. There is increasing evidence that miRNAs may act as sensitizers or enhancers of radioresistance, regulating key processes such as the DNA damage response and the cell death signaling pathway. Furthermore, expression and activity of miRNAs have shown informative value in overcoming radiotherapy and long-term radiotoxicity, revealing their potential as biomarkers. In this review, we will discuss the molecular mechanisms associated with the response to radiotherapy and highlight the central role of miRNAs in regulating the molecular mechanisms responsible for cellular radioresistance. We will also review radio-miRs, radiotherapy-related miRNAs, either as sensitizers or enhancers of radioresistance that hold promise as biomarkers or pharmacological targets to sensitize radioresistant cells.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The chromatin-associated 53BP1 ortholog, HSR-9, regulates recombinational repair and X chromosome segregation in the Caenorhabditis elegans germ line. 染色质相关 53BP1 同源物 HSR-9 在秀丽隐杆线虫种系中调控重组修复和 X 染色体分离。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae102

Qianyan Li, Sara Hariri, Aashna Calidas, Arshdeep Kaur, Erica Huey, JoAnne Engebrecht

{"title":"The chromatin-associated 53BP1 ortholog, HSR-9, regulates recombinational repair and X chromosome segregation in the Caenorhabditis elegans germ line.","authors":"Qianyan Li, Sara Hariri, Aashna Calidas, Arshdeep Kaur, Erica Huey, JoAnne Engebrecht","doi":"10.1093/genetics/iyae102","DOIUrl":"10.1093/genetics/iyae102","url":null,"abstract":"53BP1 plays a crucial role in regulating DNA damage repair pathway choice and checkpoint signaling in somatic cells; however, its role in meiosis has remained enigmatic. In this study, we demonstrate that the Caenorhabditis elegans ortholog of 53BP1, HSR-9, associates with chromatin in both proliferating and meiotic germ cells. Notably, HSR-9 is enriched on the X chromosome pair in pachytene oogenic germ cells. HSR-9 is also present at kinetochores during both mitotic and meiotic divisions but does not appear to be essential for monitoring microtubule-kinetochore attachments or tension. Using cytological markers of different steps in recombinational repair, we found that HSR-9 influences the processing of a subset of meiotic double-stranded breaks into COSA-1-marked crossovers. Additionally, HSR-9 plays a role in meiotic X chromosome segregation under conditions where X chromosomes fail to pair, synapse, and recombine. Together, these results highlight that chromatin-associated HSR-9 has both conserved and unique functions in the regulation of meiotic chromosome behavior.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332330","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

A spatial approach to jointly estimate Wright's neighborhood size and long-term effective population size. 联合估算赖特邻域规模和长期有效人口规模的空间方法。

IF 3.3 3区生物学

Genetics Pub Date : 2024-08-07 DOI: 10.1093/genetics/iyae094

Zachary B Hancock, Rachel H Toczydlowski, Gideon S Bradburd

{"title":"A spatial approach to jointly estimate Wright's neighborhood size and long-term effective population size.","authors":"Zachary B Hancock, Rachel H Toczydlowski, Gideon S Bradburd","doi":"10.1093/genetics/iyae094","DOIUrl":"10.1093/genetics/iyae094","url":null,"abstract":"Spatially continuous patterns of genetic differentiation, which are common in nature, are often poorly described by existing population genetic theory or methods that assume either panmixia or discrete, clearly definable populations. There is therefore a need for statistical approaches in population genetics that can accommodate continuous geographic structure, and that ideally use georeferenced individuals as the unit of analysis, rather than populations or subpopulations. In addition, researchers are often interested in describing the diversity of a population distributed continuously in space; this diversity is intimately linked to both the dispersal potential and the population density of the organism. A statistical model that leverages information from patterns of isolation by distance to jointly infer parameters that control local demography (such as Wright's neighborhood size), and the long-term effective size (Ne) of a population would be useful. Here, we introduce such a model that uses individual-level pairwise genetic and geographic distances to infer Wright's neighborhood size and long-term Ne. We demonstrate the utility of our model by applying it to complex, forward-time demographic simulations as well as an empirical dataset of the two-form bumblebee (Bombus bifarius). The model performed well on simulated data relative to alternative approaches and produced reasonable empirical results given the natural history of bumblebees. The resulting inferences provide important insights into the population genetic dynamics of spatially structured populations.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11491530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Build-A-Genome and the “awesome power of undergraduates” 构建基因组和 "大学生的强大力量"

IF 3.3 3区生物学

Genetics Pub Date : 2024-07-10 DOI: 10.1093/genetics/iyae083

J. Boeke, J. Bader, Leighanne Basta, Yizhi Cai, Carolyn Chapman, Eric Cooper, Jessica Dymond, Jeffrey Han, Richard M Jones, Stephanie Lauer, Bing-Zhi Li, Debra Mathews, Nick Matinyan, Héloïse Muller, Robert Newman, Raquel Ordoñez Ciriza, Matthew Payea, Amanda Qu, Franziska Sandmeier, Lisa Z. Scheifele, Hashmat Sikder, Yingjin Yuan, Karen Zeller, Yu Zhao

{"title":"Build-A-Genome and the “awesome power of undergraduates”","authors":"J. Boeke, J. Bader, Leighanne Basta, Yizhi Cai, Carolyn Chapman, Eric Cooper, Jessica Dymond, Jeffrey Han, Richard M Jones, Stephanie Lauer, Bing-Zhi Li, Debra Mathews, Nick Matinyan, Héloïse Muller, Robert Newman, Raquel Ordoñez Ciriza, Matthew Payea, Amanda Qu, Franziska Sandmeier, Lisa Z. Scheifele, Hashmat Sikder, Yingjin Yuan, Karen Zeller, Yu Zhao","doi":"10.1093/genetics/iyae083","DOIUrl":"https://doi.org/10.1093/genetics/iyae083","url":null,"abstract":"\u0000 The Elizabeth W. Jones Award for Excellence in Education recognizes individuals or groups who have had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. The 2024 Elizabeth W. Jones Award for Excellence in Education recipient Jef Boeke considers himself a geneticist turned engineer. He transformed his landmark synthetic yeast genome project into a research-heavy teaching course, revolutionizing molecular biology and genetics education.\u0000 The Build-A-Genome course was developed to teach students basic practical molecular genetics while also providing the raw materials for a global genome synthesis project, Yeast 2.0. The course evolved over two decades to reflect the changing needs and opportunities for the project and the development of new technologies. In addition to educating a generation of college and high school students in a new way, it also developed a cadre of educators who developed similar courses and projects at a wide variety of research and educational institutions.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141662843","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

FLN-2 functions in parallel to linker of nucleoskeleton and cytoskeleton complexes and CDC-42/actin pathways during P-cell nuclear migration through constricted spaces in Caenorhabditis elegans. 在秀丽隐杆线虫的 P 细胞核迁移穿过收缩空间的过程中，FLN-2 与核骨架和细胞骨架复合体的连接体以及 CDC-42/actin 通路并行发挥作用。

IF 3.3 3区生物学

Genetics Pub Date : 2024-07-08 DOI: 10.1093/genetics/iyae071

Linda Ma, Jonathan Kuhn, Yu-Tai Chang, Daniel Elnatan, G W Gant Luxton, Daniel A Starr

{"title":"FLN-2 functions in parallel to linker of nucleoskeleton and cytoskeleton complexes and CDC-42/actin pathways during P-cell nuclear migration through constricted spaces in Caenorhabditis elegans.","authors":"Linda Ma, Jonathan Kuhn, Yu-Tai Chang, Daniel Elnatan, G W Gant Luxton, Daniel A Starr","doi":"10.1093/genetics/iyae071","DOIUrl":"10.1093/genetics/iyae071","url":null,"abstract":"Nuclear migration through narrow constrictions is important for development, metastasis, and proinflammatory responses. Studies performed in tissue culture cells have implicated linker of nucleoskeleton and cytoskeleton (LINC) complexes, microtubule motors, the actin cytoskeleton, and nuclear envelope repair machinery as important mediators of nuclear movements through constricted spaces. However, little is understood about how these mechanisms operate to move nuclei in vivo. In Caenorhabditis elegans larvae, six pairs of hypodermal P cells migrate from lateral to ventral positions through a constricted space between the body wall muscles and the cuticle. P-cell nuclear migration is mediated in part by LINC complexes using a microtubule-based pathway and by an independent CDC-42/actin-based pathway. However, when both LINC complex and actin-based pathways are knocked out, many nuclei still migrate, suggesting the existence of additional pathways. Here, we show that FLN-2 functions in a third pathway to mediate P-cell nuclear migration. The predicted N-terminal actin-binding domain in FLN-2 that is found in canonical filamins is dispensable for FLN-2 function; this and structural predictions suggest that FLN-2 does not function as a filamin. The immunoglobulin-like repeats 4-8 of FLN-2 were necessary for P-cell nuclear migration. Furthermore, in the absence of the LINC complex component unc-84, fln-2 mutants had an increase in P-cell nuclear rupture. We conclude that FLN-2 functions to maintain the integrity of the nuclear envelope in parallel with the LINC complex and CDC-42/actin-based pathways to move P-cell nuclei through constricted spaces.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141154765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deleterious mutation/epimutation-selection balance with and without inbreeding: a population (epi)genetics model. 有近亲繁殖和无近亲繁殖的有害突变/非突变-选择平衡：种群（外显子）遗传学模型。

IF 3.3 3区生物学

Genetics Pub Date : 2024-07-08 DOI: 10.1093/genetics/iyae080

Gregory Chernomas, Cortland K Griswold

{"title":"Deleterious mutation/epimutation-selection balance with and without inbreeding: a population (epi)genetics model.","authors":"Gregory Chernomas, Cortland K Griswold","doi":"10.1093/genetics/iyae080","DOIUrl":"10.1093/genetics/iyae080","url":null,"abstract":"Epigenetics in the form of DNA methylation and other processes is an established property of genotypes and a focus of empirical research. Yet, there remain fundamental gaps in the evolutionary theory of epigenetics. To support a comprehensive understanding of epigenetics, this paper investigates theoretically the combined effects of deleterious mutation and epimutation with and without inbreeding. Both spontaneous epimutation and paramutation are considered to cover a broader range of epigenetic phenomena. We find that inbreeding generally reduces the amount of segregating deleterious genetic and epigenetic variation at equilibrium, although interestingly inbreeding can also increase the amount of deleterious genetic or epigenetic variation. Furthermore, we also demonstrate that epimutation indirectly can cause increased or decreased deleterious genetic variation at equilibrium relative to classic expectations, which is particularly evident when paramutation is occurring. With the addition of deleterious epimutation, there may be significantly increased purging of deleterious variation in more inbred populations and a significantly increased amount of segregating deleterious variation in more outbred populations, with notable exceptions.","PeriodicalId":48925,"journal":{"name":"Genetics","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140909688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0