genesis最新文献_第4页

The Retinal Determination Gene Network in Drosophila 果蝇视网膜决定基因网络。

IF 2.4 4区生物学

genesis Pub Date : 2026-02-09 DOI: 10.1002/dvg.70044

Xin Chen

{"title":"The Retinal Determination Gene Network in Drosophila","authors":"Xin Chen","doi":"10.1002/dvg.70044","DOIUrl":"10.1002/dvg.70044","url":null,"abstract":"<div>\u0000 \u0000 The transformation of the eye primordium into a monolayer eye epithelium with identical ommatidial units requires corporate and coordinated efforts of the retinal determination genes. During the process, the same set of retinal determination genes is utilized reiteratively to fulfill distinct functions concerning eye specification, eye patterning, cell proliferation, and cell survival. To achieve this sophisticated goal, instructions sent from the key developmental pathways and the dorsal-ventral patterning genes are incorporated, and connections are built among the retinal determination genes with temporal and spatial specificity. This facilitates the establishment of a multi-directional regulatory network named the retinal determination gene network (RDGN), which influences a wide range of retinal developmental processes. In this review, I will introduce the functional outputs of the RDGN and discuss its complexity by investigating the genetic, molecular, and biochemical interactions between the retinal determination genes. I will also clarify the fundamental roles of the key developmental pathways and the dorsal-ventral patterning genes in organizing RDGN activity. Lastly, advancements in transcriptome and ChIP sequencing technology, which facilitate the identification of the downstream effectors of the RDGN, will enable extensive characterization of the retinal determination mechanisms and allow creation of a more comprehensive picture about eye development.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"64 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146144413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin 一种新的小鼠耳聋基因Pejvakin突变分析。

IF 2.4 4区生物学

genesis Pub Date : 2026-01-20 DOI: 10.1002/dvg.70041

Maria Teresa Marcos-Almaraz, Rebeca Llorente Aparicio, Iris López-Hernández, Csaba Harasztosi, Marlies Knipper, Lukas Rüttiger, Wibke Singer, Miguel Angel de la Fuente, Thomas Schimmang

引用次数: 0

Hedgehog-Wnt Crosstalk Orchestrates Submandibular Gland Morphogenesis in Mice 刺猬- wnt相声调控小鼠颌下腺形态发生。

IF 2.4 4区生物学

genesis Pub Date : 2026-01-20 DOI: 10.1002/dvg.70042

Yunhong Song, Yamin Chen, Qian Wang, Donghai Qiu, Yong Zhang, Yan Guo

{"title":"Hedgehog-Wnt Crosstalk Orchestrates Submandibular Gland Morphogenesis in Mice","authors":"Yunhong Song, Yamin Chen, Qian Wang, Donghai Qiu, Yong Zhang, Yan Guo","doi":"10.1002/dvg.70042","DOIUrl":"10.1002/dvg.70042","url":null,"abstract":"<div>\u0000 \u0000 The development of the mouse submandibular gland (SMG) is a classic model for branching morphogenesis, orchestrated by key signaling pathways such as Hedgehog (Hh) and Wnt. While Sonic Hedgehog (Shh) is known to be essential for early SMG development, its downstream mechanisms and potential crosstalk with other pathways remain unclear. This study investigates the functional interaction between Hh and Wnt signaling during SMG morphogenesis. Using both in vivo (pharmacological inhibition in pregnant mice) and ex vivo (organ culture) models, we inhibited Hh signaling with vismodegib from embryonic day 13.5 (E13.5). Hh inhibition led to severe morphological defects, including reduced epithelial branching and disorganized ductal structures. As expected, the expression of Hh target genes Ptch1 and Gli1 was downregulated. Notably, Hh suppression resulted in a concomitant upregulation of Wnt pathway activity, evidenced by increased nuclear β-catenin and elevated expression of the target genes Axin2 and Lef1. This suggested that Hh signaling normally acts to repress Wnt activity during SMG development. Critically, the co-administration of the Wnt inhibitor XAV939 with vismodegib in ex vivo cultures partially rescued the branching defects caused by Hh inhibition. We conclude that Hh signaling promotes murine SMG morphogenesis, at least in part, by tonically inhibiting the Wnt pathway. This study unveils a novel inhibitory crosstalk between Hh and Wnt signaling that is essential for normal salivary gland development.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"64 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146012804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype crispr - cas9生成的TXNDC15 c.560delA纯合小鼠模型显示出Meckel-Gruber综合征表型

IF 2.4 4区生物学

genesis Pub Date : 2026-01-10 DOI: 10.1002/dvg.70040

Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo

引用次数: 0

Generation of Mice Harboring Bicc1 Conditional Null Alleles 携带Bicc1条件空等位基因的小鼠的产生。

IF 2.4 4区生物学

genesis Pub Date : 2026-01-09 DOI: 10.1002/dvg.70038

Chia-Feng Liu, Steven Leon, Isabella Herrig, Oliver Wessely, W. H. Wilson Tang

{"title":"Generation of Mice Harboring Bicc1 Conditional Null Alleles","authors":"Chia-Feng Liu, Steven Leon, Isabella Herrig, Oliver Wessely, W. H. Wilson Tang","doi":"10.1002/dvg.70038","DOIUrl":"10.1002/dvg.70038","url":null,"abstract":"Bicaudal C1 (Bicc1) encodes an RNA-binding protein critical for many organ development and epithelial tissue homeostasis. Bicc1 null mutations have been shown to lead to the development of polycystic kidney disease (PKD) and death at an early prenatal stage. To elucidate the tissue-specific functions of Bicc1, we engineered two independent conditional knockout (cKO) mouse lines targeting distinct exonic regions of the gene. The first line was generated using a traditional embryonic stem (ES) cell-based approach, wherein loxP sites were inserted flanking exon 4 (E4), enabling Cre-mediated excision of a functionally essential coding region. The second line was created using CRISPR/Cas9 genome editing, introducing loxP sites around both exon 4 and exon 5 (E4-5) in a double-step zygote injection strategy. Both alleles were validated by PCR genotyping, sequencing, and functional recombination was confirmed via a tissue-specific Cre driver. These independent cKO models provide a robust platform for dissecting the role of Bicc1 in specific tissues and developmental stages, and offer new avenues for studying the mechanistic basis of PKD and other Bicc1-related pathologies.","PeriodicalId":12718,"journal":{"name":"genesis","volume":"64 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 E3 Ubiquitin Ligase DCAF13 Is Essential for Craniofacial Development E3泛素连接酶DCAF13对颅面发育至关重要。

IF 2.4 4区生物学

genesis Pub Date : 2026-01-05 DOI: 10.1002/dvg.70039

Li Liu, Xiaoming Xu, Peijun Huang, Wenhang Wang, Yanhui Lin, Pandi Song, Xinran Cui, Junyao Lv, Feixue Wang, Lin Yuman, Ziqing Zhu, Wenjing Sun, Jingling Shen

{"title":"The E3 Ubiquitin Ligase DCAF13 Is Essential for Craniofacial Development","authors":"Li Liu, Xiaoming Xu, Peijun Huang, Wenhang Wang, Yanhui Lin, Pandi Song, Xinran Cui, Junyao Lv, Feixue Wang, Lin Yuman, Ziqing Zhu, Wenjing Sun, Jingling Shen","doi":"10.1002/dvg.70039","DOIUrl":"10.1002/dvg.70039","url":null,"abstract":"<div>\u0000 \u0000 Craniofacial morphogenesis requires precisely coordinated proliferation, migration, and differentiation of cranial neural crest (CNC) cells during development. Although DDB1- and CUL4-associated factor 13 (DCAF13) is known to play critical roles in early embryogenesis and tumorigenesis, its function in neural crest development remains unknown. Here, we identify a novel role for DCAF13 in craniofacial development. Conditional knockout of Dcaf13 in neural crest lineages resulted in severe craniofacial malformations characterized by impaired skeletal growth and differentiation. Mechanistically, DCAF13 deficiency in mesenchymal cells led to PTEN accumulation, a key negative regulator of PI3K/AKT signaling, thereby suppressing proliferation and differentiation of CNC-derived cells. Our findings establish DCAF13 as a crucial regulator of craniofacial morphogenesis through its control of the PTEN-PI3K/AKT signaling axis, which orchestrates neural crest cell proliferation and differentiation.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"64 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 Novel LRP6 Mutation Highlights the Role of Wnt Signaling in Tooth Agenesis 一种新的LRP6突变强调了Wnt信号在牙齿发育中的作用。

IF 2.4 4区生物学

genesis Pub Date : 2025-12-19 DOI: 10.1002/dvg.70036

Xinyuan Wang, Linrui Wu, Runji Xiong, Yaxin Wang, Yuanyuan Zhao, Runming Jin, Jiajia Zhao

引用次数: 0

Generation of Tpbpα-iCre-EGFP Knock-In Mice for Trophoblast Subtype-Specific Gene Manipulation 滋养细胞亚型特异性基因操作的Tpbpα-iCre-EGFP敲入小鼠的产生

IF 2.4 4区生物学

genesis Pub Date : 2025-12-08 DOI: 10.1002/dvg.70034

Shaoqiang Ban, Chang'e Mu, Mengqi Gu, Yinan Wang, Han Cai, Shuangbo Kong, Haibin Wang, Jinhua Lu

{"title":"Generation of Tpbpα-iCre-EGFP Knock-In Mice for Trophoblast Subtype-Specific Gene Manipulation","authors":"Shaoqiang Ban, Chang'e Mu, Mengqi Gu, Yinan Wang, Han Cai, Shuangbo Kong, Haibin Wang, Jinhua Lu","doi":"10.1002/dvg.70034","DOIUrl":"10.1002/dvg.70034","url":null,"abstract":"<div>\u0000 \u0000 The placenta plays an essential role during pregnancy in mammals, with the placental endocrine trophoblast subtypes secreting many growth factors and cytokines to promote fetal growth and maternal adaptation. These endocrine cells, including trophoblast giant cells (TGCs), glycogen trophoblast cells (GlyTs) and spongiotrophoblast cells (SpTs), are mainly derived from Tpbpα-positive (Tpbpα+) trophoblast cells primarily located in the ectoplacental cone (EPC) and later junctional zone (JZ) of the mouse placenta. However, the mechanism driving Tpbpα+ trophoblast cell differentiation and the functions of the factors secreted by these endocrine cells remain largely unknown. In the present study, we generated the Tpbpα-iCre-EGFP knock-in mice with codon-improved Cre recombinase (iCre) inserted into the endogenous locus of the Tpbpα gene. To examine the specificity and efficiency of iCre recombinase, we crossed the Tpbpα-iCre-EGFP mice with ROSA26Sortm9(CAG-tdTomato)Hze reporter mice. The co-expression of EGFP and Td-tomato was detected obviously in the EPC at E8.5 and E9.5, and in the JZ at E13.5. Meanwhile, employing lineage tracing and in situ hybridization, we demonstrated that Tpbpα+ trophoblast cells could differentiate into SpTs, GlyTs, maternal blood canal (C)-TGCs, parietal (P)-TGCs, and spiral artery-associated (Spa)-TGCs. In addition, no Tpbpα expression or iCre recombinase activity was detected in other organs examined, indicating the specificity of the iCre activity in placental trophoblast cells. In summary, we successfully generated the Tpbpα-iCre-EGFP knock-in mice with enhanced Cre recombinase for modulating specific genes and investigating their functions during pregnancy.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"63 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Transcriptomic Analysis of Skeletal Muscle Systems Comparing Bovines, Humans, and Mice Using scRNA-Seq 使用scRNA-Seq对牛、人类和小鼠骨骼肌系统进行转录组学分析。

IF 2.4 4区生物学

genesis Pub Date : 2025-12-03 DOI: 10.1002/dvg.70035

Cuicui Cai, Xueyao Yang, Hui Wang, Xin Cai, Jiabo Wang, Jikun Wang, Haibo Wang, Ming Zhang, Zhijuan Wu, Jiangjiang Zhu, Jincheng Zhong, Fengwei Zhang, Peng Wan, Binglin Yue

{"title":"Transcriptomic Analysis of Skeletal Muscle Systems Comparing Bovines, Humans, and Mice Using scRNA-Seq","authors":"Cuicui Cai, Xueyao Yang, Hui Wang, Xin Cai, Jiabo Wang, Jikun Wang, Haibo Wang, Ming Zhang, Zhijuan Wu, Jiangjiang Zhu, Jincheng Zhong, Fengwei Zhang, Peng Wan, Binglin Yue","doi":"10.1002/dvg.70035","DOIUrl":"10.1002/dvg.70035","url":null,"abstract":"<div>\u0000 \u0000 Skeletal muscle is the most widespread tissue in mammals and mediates several functions, and whose development is controlled by a coordinated transcriptional hierarchy that regulates the activities of a range of muscle genes. Skeletal muscle comprises various cells that create communication strategies for exchanging biological information. Nevertheless, the features and developmental programs of several of these cell lines remain unknown. We constructed a complete single-cell landscape of prenatal to postnatal developing bovine skeletal muscle and compared its single-cell transcriptomic characteristics with those of humans and mice. This landscape involved cellular heterogeneity, dynamic gene expression profiles, critical regulons during cell fate decisions, extensive networks of intercellular communication, and a gene regulation network. Overall, our results identify a developmental coordinate of the pluripotency spectrum among bovines, humans, and mice. This finding suggests evolutionary conservation and species-specific differences in the skeletal muscle systems, extending to cell types, gene expression, and regulatory elements. These results offer insights into evolutionary conserved and divergent processes during mammalian skeletal muscle development.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"63 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis 新型CHARGE综合征小鼠模型揭示CHD7酶活性在发病机制中的作用

IF 2.4 4区生物学

genesis Pub Date : 2025-11-26 DOI: 10.1002/dvg.70033

Ze Wang, Shuhua Dong, Zhuxi Huang, Huiling Zhang, Shihang Mao, Ming Zhu, Duanwu Zhang, Geng-Lin Li, Weijun Feng

{"title":"New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis","authors":"Ze Wang, Shuhua Dong, Zhuxi Huang, Huiling Zhang, Shihang Mao, Ming Zhu, Duanwu Zhang, Geng-Lin Li, Weijun Feng","doi":"10.1002/dvg.70033","DOIUrl":"10.1002/dvg.70033","url":null,"abstract":"<div>\u0000 \u0000 Genetic variants of CHD7, encoding a chromatin remodeler, lead to CHARGE syndrome with congenital deficits in multiple organs. One crucial unsolved question is the causal mechanisms of most protein-altering variants of CHD7. One hypothesis is that these variants impair the enzymatic activity of CHD7, that is ATPase and nucleosome remodeling activities. Herein, we compared the phenotype of two new mouse models for CHARGE syndrome in parallel, with the Dppa3-cre/Chd7f/+ line carrying a Chd7 truncation variant and the Chd7S824F/+ line carrying an enzymatic-deficient missense variant. While the Dppa3-cre/Chd7f/+ line displayed typical disease-relevant phenotypes of CHARGE syndrome as other reported lines, some of these phenotypes, such as body growth and circling behavior, were surprisingly mild in the ATPase-deficient Chd7S824F/+ mouse line. Thus, our results demonstrated the different contribution of the enzymatic activity of CHD7 in growth and organogenesis.\u0000 </div>","PeriodicalId":12718,"journal":{"name":"genesis","volume":"63 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145606976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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