Developmental Dynamics最新文献

{"title":"Pancreatic injury induces β-cell regeneration in axolotl","authors":"Connor J. Powell,&nbsp;Hani D. Singer,&nbsp;Ashley R. Juarez,&nbsp;Ryan T. Kim,&nbsp;Elane Kim,&nbsp;Duygu Payzin-Dogru,&nbsp;Aaron M. Savage,&nbsp;Noah J. Lopez,&nbsp;Kara Thornton,&nbsp;Steven J. Blair,&nbsp;Adnan Abouelela,&nbsp;Anita Dittrich,&nbsp;Stuart G. Akeson,&nbsp;Miten Jain,&nbsp;Jessica L. Whited","doi":"10.1002/dvdy.70060","DOIUrl":"10.1002/dvdy.70060","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Diabetes is a condition characterized by a loss of pancreatic β-cell function, which results in the dysregulation of insulin homeostasis. Using a partial pancreatectomy model in axolotl, we aimed to observe the pancreatic response to injury.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Here we show a comprehensive histological characterization of pancreatic islets in axolotl. Following pancreatic injury, no apparent blastema-like structure was observed. We found a significant, organ-wide increase in cellular proliferation post-resection in the pancreas compared to sham-operated controls. This proliferative response was most robust at the site of injury. Further, an increase in nuclear density was observed, suggesting compensatory congestion as a mechanism of regeneration. We found that β-cells actively contributed to the increased rates of proliferation upon injury. β-Cell proliferation manifested in increased β-cell mass in injured tissue at 2 weeks post-injury. At 4 weeks post-injury, we found organ-wide proliferation to be extinguished while proliferation at the injury site persisted, corresponding to pancreatic tissue recovery. Similarly, total β-cell mass was comparable to sham after 4 weeks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings suggest a non-blastema-mediated regeneration process takes place in the pancreas, by which pancreatic resection induces whole-organ β-cell proliferation without the formation of a blastemal structure. This process is analogous to other models of compensatory congestion in axolotl.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 8","pages":"748-760"},"PeriodicalIF":1.5,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658691","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}

{"title":"Seawater incubated embryos of a freshwater Aplocheilus lineatus (Aplocheilidae; Cyprinodontiformes) support the dispersal hypothesis of killifish intercontinental distribution.","authors":"Vasily Borisov, Fedor Shkil, Sergei Smirnov","doi":"10.1002/dvdy.70176","DOIUrl":"https://doi.org/10.1002/dvdy.70176","url":null,"abstract":"<p><strong>Background: </strong>Aplocheiloid killifishes (Cyprinodontiformes, Aplocheiloidei) inhabiting Africa, America, and South Asia are unique in that embryos of annual species are capable of entering a state of diapause and becoming extremely stress resistant. Distribution of aplocheiloids is a biogeographical enigma: how freshwater fish managed to cross long-distance oceanic barriers to become intercontinentally distributed? As a hypothesis, we proposed their embryos to be a dispersal stage. To test it, we compared embryonal development in seawater and freshwater incubated eggs of Aplocheilus lineatus from the Aplocheilidae family, an early-diverging aplocheiloid non-annual clade with the intercontinental disjunct distribution across Madagascar and India separated by an ocean.</p><p><strong>Results: </strong>Seawater incubated A. lineatus embryos were revealed to be salt tolerant and able: (i) to delay hatching and prolong embryonic period, (ii) to retard embryonic development and growth, and (iii) to reduce consumption of endogenous food reserves.</p><p><strong>Conclusions: </strong>Revealed developmental traits in principle may favor long-distance transoceanic trips of embryos. Given eggs in aplocheilids are adhesive and can readily attach to plant debris, rafting seems to be possible as a mechanism of oceanic dispersal. It is not excluded that a similar mechanism was used by some other freshwater fish clades with intercontinental distribution (e.g., cichlids).</p>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148590963","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}

{"title":"Differential sensitivity to SHH signaling and neural crest-mediated Gas1 expression regulate jaw size during development and evolution.","authors":"Zuzana Vavrušová, Daniel B Chu, An Nguyen, Yeniko Ta, Jennifer L Fish, Richard A Schneider","doi":"10.1002/dvdy.70177","DOIUrl":"https://doi.org/10.1002/dvdy.70177","url":null,"abstract":"<p><strong>Background: </strong>Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws. NCM relies on multiple signaling pathways including Sonic Hedgehog (SHH) to mediate interactions with mandibular epithelium and promote jaw outgrowth. We investigated if NCM-mediated regulation of the SHH pathway underlies species-specific evolution of jaw size.</p><p><strong>Results: </strong>We analyze expression of SHH pathway members over time and find that Growth Arrest-Specific 1 (GAS1), which is a SHH co-receptor, is expressed 20-75-fold higher in mandibular primordia of duck relative to those of quail. We generate quail-duck chimeras and demonstrate Gas1 expression is NCM-regulated. Gain- and loss-of-function experiments reveal species-specific sensitivity to SHH signaling, especially for Gas1. Gas1 overexpression and knockdown in NCM alters cell number and jaw size, and differentially affects genes involved in the SHH and WNT pathways, the cell cycle, and others. We also uncover intriguing differences in the Gas1 promoter and coding sequence between duck and quail.</p><p><strong>Conclusions: </strong>Our work suggests changes to Gas1 expression and function may modulate jaw size during development, disease, and evolution.</p>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148548156","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}

{"title":"Jaw-specific stem cell dynamics are associated with distinct enamel architecture in mouse incisors.","authors":"Elias Shahin, Jihan Asmar, Sanako Takano, Jimmy K Hu, Amnon Sharir","doi":"10.1002/dvdy.70175","DOIUrl":"10.1002/dvdy.70175","url":null,"abstract":"<p><strong>Background: </strong>The continuously growing mouse incisor serves as a model for stem cell-driven tooth renewal. Although mice possess maxillary and mandibular incisors, most studies have focused on the mandible. Potential differences in structure and renewal between these serially homologous organs remain insufficiently characterized.</p><p><strong>Results: </strong>Mandibular incisors are longer and contain greater enamel volume, mineral density, and mineral content than maxillary incisors, whereas maxillary incisors are more curved and display a larger cross-sectional area. Mineral density increases along the apical-to-incisal axis in both teeth, although mandibular incisors exhibit greater mineral deposition and retention. The maxillary incisor contains a larger pool of cycling progenitors with proliferation dynamics comparable to those of the mandibular incisor. Although ameloblast differentiation initiates at a similar position in both incisors, the mandibular incisor contains a ~20% longer secretory-stage ameloblast region. Consistent with this observation, gene expression analysis reveals earlier Igfbpl1 expression onset in the mandible.</p><p><strong>Conclusions: </strong>Homologous mouse incisors differ in progenitor pool size, ameloblast maturation, and enamel formation. Increased enamel output in the mandible is associated with a prolonged secretory phase, whereas the maxilla contains an expanded progenitor pool. These findings support the maxillary incisor as a complementary model for studying mechanisms that regulate tooth renewal.</p>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148561023","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}

{"title":"Zebrafish ventral gastrula fate map reveals neural crest progenitor domain.","authors":"Elaine E Kushkowski, Victoria E Prince","doi":"10.1002/dvdy.70174","DOIUrl":"10.1002/dvdy.70174","url":null,"abstract":"<p><strong>Background: </strong>Fate maps relate progenitor cell positions to later fates and locations of their progeny, revealing early embryonic organization. Previous zebrafish fate maps identified the origin of germ layers and derivative cell fates, but ventral gastrula progenitor domains were not fully resolved. In particular, the neural crest, a multipotent cell type central to vertebrate development and evolution, was not characterized in the zebrafish fate map.</p><p><strong>Results: </strong>We generated a region-based fate map to resolve the origin of the neural crest and overall organization of the ventral gastrula. This fate map demonstrates that cranial neural crest and placodes arise from a broadly overlapping progenitor domain. Notably, trunk neural crest and neural tube always arise together, while cranial neural crest and neural tube can arise from segregated progenitor pools. A separate, far-ventral progenitor domain produces somites, spinal cord, neural crest, and epidermis in the posterior tail.</p><p><strong>Conclusions: </strong>We situate the neural crest in the fate map and clarify the early embryonic organization of the zebrafish ventral gastrula. Our fate map establishes multiple mixed-fate domains in the ventral gastrula and their contributions to the overall body plan. This fate map provides information for further investigation of early vertebrate development and neural crest biology.</p>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148444423","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}

{"title":"Editorial highlights","authors":"Paul A. Trainor","doi":"10.1002/dvdy.70168","DOIUrl":"10.1002/dvdy.70168","url":null,"abstract":"&lt;p&gt;Every organism is a model organism for understanding development, evolution, disease, and regeneration, and we have only begun to scratch the surface of the interdisciplinary genetic, molecular, cellular, and developmental mechanisms that regulate these biological processes. These “highlights” denote exciting advances recently reported in &lt;i&gt;Developmental Dynamics&lt;/i&gt; that illustrate the complex dynamics of developmental biology.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Meet the Editorial Team&lt;/b&gt; “Meet the Editorial Team, An interview with Amitabha Bandyopadhyay, Assistant Editor, Developmental Dynamics, Indian Institute of Technology Kanpur, India” by Paul Trevorrow and Amitabha Bandyopadhyay.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Dr Bandyopadhyay studies the molecular regulation of limb skeleton development, specifically the development of joint cartilage and osteoarthritis, a pathology of skeletal joints. Although human height varies, the ratio between different limb segments, specifically the stylopod and zeugopod, remains strikingly constant. Dr Bandyopadhyay's team found that reciprocal gradients of RA–FGF signaling specify the segmentation sites that delineate these segments in the limb. With respect to osteoarthritis, age and obesity are the two most critical causative factors. Obesity is associated with chronic inflammation, and BMP signaling is known to be required for the conversion of cartilage to bone. Therefore, obesity-associated macrophages may act as a source of BMP ligands triggering the pathological conversion of cartilage to bone. Osteoarthritis, as Dr Bandyopadhyay notes, is therefore an example of how developmental biology continues to operate in adult physiology and pathology, and bridging the gap between fundamental biology and disease pathogenesis can enhance the treatment of developmental disorders and diseases.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Maternal Effects and Epitranscriptomics&lt;/b&gt; “Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology” by Ehsan Pashay Ahi.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; Maternal effects, encompassing both genetic (maternally expressed gene products) and non-genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA-level mechanisms remain poorly understood. Epitranscriptomics, which encompass biochemical modifications of RNA, such as m6A and m5C that regulate gene expression without altering the underlying genetic sequence, have emerged as a new layer of gene regulation with implications for cell fate, plasticity, and response to environmental cues. In this perspective, the author proposes that the development of offspring is shaped by maternal cues via targeted RNA modifications, in a concept called “maternal RNA imprinting.” This has the potential to open new avenues for research and to reevaluate how maternal environments molecularly shape development.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Development and Disease&lt;/b&gt; “Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila d","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 7","pages":"622-623"},"PeriodicalIF":1.5,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.70168","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148419407","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}

{"title":"Meet the Editorial Team. An interview with Amitabha Bandyopadhyay, Assistant Editor, Indian Institute of Technology Kanpur, India","authors":"Paul Trevorrow,&nbsp;Amitabha Bandyopadhyay","doi":"10.1002/dvdy.70137","DOIUrl":"10.1002/dvdy.70137","url":null,"abstract":"&lt;p&gt;Amitabha Bandyopadhyay is a professor in the department of Biological Sciences and Bioengineering of the Indian Institute of Technology Kanpur. He Chairs the R&amp;D Taskforce of the Gangwal School of Medical Sciences and Technology of IIT Kanpur. Amitabha conducted his doctoral research at Albert Einstein College of Medicine in New York. Upon receiving his PhD in 2002, he joined Harvard Medical School for his post-doctoral research. In his independent laboratory, he studies the molecular regulation of limb skeleton development, specifically the development of joint cartilage and osteoarthritis, a pathology of skeletal joints. Since July 2018 to August 2022, Amitabha served as the Professor-in-charge of Innovation and Incubation and ran the Technology Business Incubator of IIT Kanpur. From January 2021, Amitabha is a member of the National Startup Advisory Council. He is also a member of the Committee for the National Innovation and Startup Policy 2024. He has co-authored a book titled, “The Ventilator Project: How the IIT Kanpur Consortium Built a World-class Product during India's Covid-19 Lockdown” chronicling the extraordinary journey of a group of young IIT Kanpur alumni developing an ICU ventilator in 90 days. Amitabha is a member of several national committees advising/overseeing the startup ecosystem of India, particularly the Healthcare startups.&lt;/p&gt;&lt;p&gt;My father was an agricultural scientist—a traditional plant breeder—and his work had a big influence on me. India has a wide range of geographic environments, including coastal estuaries where seawater moves inland, making rice cultivation very difficult. My father developed rice varieties that could thrive in those challenging conditions. He crossed low-yielding wild varieties adapted to saline, flood-prone areas with high-yielding varieties from the northern plains, creating rice plants that could grow as water levels rose—up to a foot—and were both salt- and flood-resistant.&lt;/p&gt;&lt;p&gt;He used to show me his research data when I was in grades 8 and 9, and I found it fascinating. From quite early on, I knew I wanted to go into research.&lt;/p&gt;&lt;p&gt;At school my favorite subject was chemistry, whereas I really disliked biology, largely because the Indian biology textbooks—still true today—tend to encourage rote learning. I then went on to study at Presidency College, Calcutta, one of India's most prestigious and historically significant institutions, founded in 1817. Many Indian Nobel laureates have links to the college. I enrolled in the chemistry program, which was a three-year BSc similar to the UK system.&lt;/p&gt;&lt;p&gt;In the final year, we had to choose a special subject. My mathematics was frankly terrible, so I avoided industrial chemistry and chose biochemistry instead. I bought myself a copy of Stryer's &lt;i&gt;Biochemistry&lt;/i&gt;, and I must say, Paul, that book completely changed my outlook. I fell in love with biochemistry almost immediately. I went on to do a master's degree in biochemistry in India","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 7","pages":"624-627"},"PeriodicalIF":1.5,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.70137","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812230","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}

{"title":"Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model","authors":"Gamze Akarsu,&nbsp;Katja R. MacCharles,&nbsp;Kenneth Kin Lam Wong,&nbsp;Joy M. Richman,&nbsp;Esther M. Verheyen","doi":"10.1002/dvdy.70056","DOIUrl":"10.1002/dvdy.70056","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in <i>Drosophila</i> and chicken models disrupts the balance of canonical and non-canonical Wnt signaling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this study, we further examine morphological changes that occur due to expression of <i>DVL1</i>^{<i>1519ΔT</i>}, which serves as a prototype for other pathogenic variants. We show that epithelial imaginal disc development is disrupted in legs and wings and accompanied by increased cell death, without changes in cell proliferation. By inhibiting caspase-dependent cell death, we show that the altered epithelial morphology is not solely due to variant-induced cell death. Furthermore, we find alterations of basement membrane components and modulators. Notably we find ectopic Mmp1 expression and tissue distortion, which is dependent on JNK signaling. We also find an abnormal abundance of <i>Drosophila</i> collagen IV (Viking) in pupal wing development. Due to the complex nature of appendage development, we also examined the Bone Morphogenetic Protein pathway and found elevated signaling activity via the transcriptional readou<i>t dad-lacZ</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Through these studies, we have gained more insight into the developmental consequences of <i>DVL1</i> variants implicated in autosomal dominant Robinow syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 7","pages":"646-670"},"PeriodicalIF":1.5,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.70056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539512","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}

{"title":"Single-cell sequencing reveals potential novel insights into appendage-patterning and joint-development in a spider","authors":"Brenda I. Medina-Jiménez,&nbsp;Graham E. Budd,&nbsp;Ralf Janssen","doi":"10.1002/dvdy.70069","DOIUrl":"10.1002/dvdy.70069","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Jointed appendages represent one of the key innovations of arthropods, and thus understanding the development and evolution of these structures is important for the understanding of the evolutionary success of Arthropoda. In this paper, we analyze a cell cluster that was identified in a previous single-cell sequencing (SCS) experiment on embryos of the spider <i>Parasteatoda tepidariorum</i>. This cell cluster is characterized by marker genes that suggest a role in appendage patterning and joint development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We analyzed the expression profiles of these marker genes showing that they are expressed in the developing appendages and in a pattern that suggests a potential function during joint development. Several of the investigated genes represent new and unexpected factors such as <i>dysfusion</i> (<i>dysf</i>), <i>spätzle3</i> (<i>spz3</i>), <i>seven-up</i> (<i>svp</i>). In order to study their evolutionary origin, we also investigated orthologs of the identified appendage-patterning genes in the harvestman <i>Phalangium opilio</i>, a distantly related chelicerate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our work highlights the usefulness of SCS experiments for the identification of potential new genetic factors that are involved in specific developmental processes. The current data provide potential new insights into the gene regulatory networks that underlie arthropod joint development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 7","pages":"671-697"},"PeriodicalIF":1.5,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.70069","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793761","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}

{"title":"Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome","authors":"Anna K. Leinheiser,&nbsp;Timothy T. Nguyen,&nbsp;Kayla M. Henry,&nbsp;Mariela Rosales,&nbsp;Eric Van Otterloo,&nbsp;Chad E. Grueter","doi":"10.1002/dvdy.70079","DOIUrl":"10.1002/dvdy.70079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC. In mammals, there are paralogs for CKM components, including MED13L, MED12L, and CDK19. Neurological disorders have been associated with mutations in CKM genes including <i>MED13L</i> syndrome. <i>MED13L</i> syndrome is generally characterized as a haploinsufficiency of MED13L with a broad phenotypic response due in part to a wide range of de novo mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We developed a <i>Med13l</i> heterozygous (HET) mouse model with an exon 11 deletion to evaluate whether <i>Med13l</i> HET mice are a viable research tool to study human phenotypes. We characterized our mouse model using growth, cardiovascular, and skeletal readouts. We observed <i>Med13l</i> HET mice are smaller than wildtype (WT) littermates, and over 60% of them exhibited one of two craniofacial anomalies: a pug snout with midface hypoplasia or a crooked snout. We also observed discontinuous squamosal sutures in a subset of our <i>Med13l</i> HETs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p><i>Med13l</i> HET mice recapitulate <i>MED13L</i> syndrome phenotypes including a developmental growth delay and craniofacial anomalies. <i>Med13l</i> HET mice represent a novel research tool for <i>MED13L</i> syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11247,"journal":{"name":"Developmental Dynamics","volume":"255 7","pages":"724-735"},"PeriodicalIF":1.5,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145014121","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}