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Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis 加洛韦-莫瓦特综合征:非洲爪蟾胚胎发生过程中生物信息学和表达的新见解

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-12-01 DOI: 10.1016/j.gep.2021.119215

Ernestine Treimer , Kathrin Niedermayer , Sven Schumann , Martin Zenker , Michael J. Schmeisser , Susanne J. Kühl

{"title":"Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis","authors":"Ernestine Treimer , Kathrin Niedermayer , Sven Schumann , Martin Zenker , Michael J. Schmeisser , Susanne J. Kühl","doi":"10.1016/j.gep.2021.119215","DOIUrl":"10.1016/j.gep.2021.119215","url":null,"abstract":"<div>Galloway-Mowat syndrome (GAMOS) is a rare developmental disease. Patients suffer from congenital brain anomalies combined with renal abnormalities often resulting in an early-onset steroid-resistant nephrotic syndrome.The etiology of GAMOS has a heterogeneous genetic contribution. Mutations in more than 10 different genes have been reported in GAMOS patients. Among these are mutations in four genes encoding members of the human KEOPS (kinase, endopeptidase and other proteins of small size) complex, including OSGEP, TP53RK, TPRKB and LAGE3. Until now, these components have been functionally mainly investigated in bacteria, eukarya and archaea and in humans in the context of the discovery of its role in GAMOS, but the KEOPS complex members’ expression and function during embryogenesis in vertebrates is still unknown.In this study, in silico analysis showed that both gene localization and the protein sequences of the three core KEOPS complex members Osgep, Tp53rk and Tprkb are highly conserved across different species including Xenopus laevis. In addition, we examined the spatio-temporal expression pattern of osgep, tp53rk and tprkb using RT-PCR and whole mount in situ hybridization approaches during early Xenopus development. We observed that all three genes were expressed during early embryogenesis and enriched in tissues and organs affected in GAMOS. More precisely, KEOPS complex genes are expressed in the pronephros, but also in neural tissue such as the developing brain, eye and cranial cartilage.These findings suggest that the KEOPS complex plays an important role during vertebrate embryonic development.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"42 ","pages":"Article 119215"},"PeriodicalIF":1.2,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39518457","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: 2

Eya1 protein distribution during embryonic development of Xenopus laevis 非洲爪蟾胚胎发育过程中Eya1蛋白的分布

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-12-01 DOI: 10.1016/j.gep.2021.119213

Suad Hamdan Almasoudi, Gerhard Schlosser

{"title":"Eya1 protein distribution during embryonic development of Xenopus laevis","authors":"Suad Hamdan Almasoudi, Gerhard Schlosser","doi":"10.1016/j.gep.2021.119213","DOIUrl":"10.1016/j.gep.2021.119213","url":null,"abstract":"<div>Eya1 and other Eya proteins are important regulators of progenitor proliferation, cell differentiation and morphogenesis in all three germ layers. At present, most of our knowledge of Eya1 distribution is based on in situ hybridization for Eya1 mRNA. However, to begin to dissect the mechanisms underlying Eya1 functions, we need a better understanding of the spatiotemporal distribution of Eya1 proteins during embryonic development, their subcellular localization and their levels of expression in various tissues. Here we report the localization of Eya1 protein throughout embryonic development from neural plate stages to tadpole stages of Xenopus laevis using a specific antibody for Xenopus Eya1. Our study confirms the expression of Eya1 protein in cranial placodes, placodally derived sensory primordia (olfactory epithelium, otic vesicle, lateral line primordia) and cranial ganglia, as well as in somites, secondary heart field and pharyngeal endoderm. In addition, we report here a novel expression of Eya1 proteins in scattered epidermal cells in Xenopus. Our findings also reveal that, while being predominantly expressed in nuclei in most expression domains, Eya1 protein is also localized to the cytoplasm, in particular in the early preplacodal ectoderm, some placode-derived ganglia and a subset of epidermal cells. While some cytoplasmic roles of Eya1 have been previously described in other contexts, the functions of cytoplasmic Eya1 in the preplacodal ectoderm, cranial ganglia and epidermal cells remain to be investigated.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"42 ","pages":"Article 119213"},"PeriodicalIF":1.2,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1567133X2100048X/pdfft?md5=8186a0c37cd44be2195fa68aaa5152ac&pid=1-s2.0-S1567133X2100048X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39427663","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: 2

Expression of the developmental important candidate genes in oocytes, embryos, embryonic stem cells, cumulus cells, and fibroblast cells of buffalo (Bubalus bubalis) 水牛卵母细胞、胚胎、胚胎干细胞、卵丘细胞和成纤维细胞中重要发育候选基因的表达

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119200

S. Kumar, M.K. Singh, M.S. Chauhan

{"title":"Expression of the developmental important candidate genes in oocytes, embryos, embryonic stem cells, cumulus cells, and fibroblast cells of buffalo (Bubalus bubalis)","authors":"S. Kumar, M.K. Singh, M.S. Chauhan","doi":"10.1016/j.gep.2021.119200","DOIUrl":"10.1016/j.gep.2021.119200","url":null,"abstract":"<div>The present study was undertaken to study the expression of the developmental important gene transcripts in immature oocytes, mature oocytes, different stages of IVF produced embryos, embryonic stem (ES), cumulus (BCC), fetal fibroblast (BFF), newborn fibroblast (NBF) and adult fibroblast (BAF) cells of buffalo by semi-quantitative RT-PCR. The expression of GLUT1, HSP70.1, POL A Polymerase, GDF9, BMP15, and SURVIVIN transcripts was found in immature oocytes, mature oocytes, 2-cell, 4-cell, 8–16 cell, morula, and the blastocyst. Interestingly, the CX43 expression was found in oocytes, embryos, and other cell types, but it was not detected in the blastocyst. However, the IFNT expression was found in the blastocyst only, but not in other cells. The buffalo ES cells showed the expression of intracellular and cell surface markers (NANOG, OCT4, SOX2, FOXD3, SSEA-3, SSEA-4, TRA-1-60, and TRA-1-81) and alkaline phosphatase activity. Two ES cell lines (S-line and M-line-II) were continued to survive up to 98th passages (~630 days) and 97th passages (~624 days), respectively. It was interesting to note that GLUT1, CX43, HSP70.1, POL A Polymerase, GDF9, BMP15, and SURVIVIN transcripts (except the IFNT) were expressed in buffalo ES, BCC, BFF, NBF and BAF cells. This is the first preliminary report that the buffalo ES, BCC, BFF, NBF, and BAF cells expressed the several developmental important candidate genes. It is concluded that the expression of the major developmental important genes was not only expressed in the oocytes and embryos but also expressed in the ES, BCC, BFF, NBF, and BAF cells of buffalo.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"41 ","pages":"Article 119200"},"PeriodicalIF":1.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.gep.2021.119200","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39261771","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

The development of zebrafish pancreas affected by deficiency of Hedgehog signaling Hedgehog信号缺乏对斑马鱼胰腺发育的影响

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119185

Svitlana Korzh , Cecilia L. Winata , Zhiyuan Gong , Vladimir Korzh

引用次数: 1

Pharyngeal endoderm expression of nanos1 is dispensable for craniofacial development 咽内胚层表达nanos1对于颅面发育是必不可少的

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119202

Hyejee Na , Jangwon Park , Haewon Jeon , Sil Jin , Chong Pyo Choe

{"title":"Pharyngeal endoderm expression of nanos1 is dispensable for craniofacial development","authors":"Hyejee Na , Jangwon Park , Haewon Jeon , Sil Jin , Chong Pyo Choe","doi":"10.1016/j.gep.2021.119202","DOIUrl":"10.1016/j.gep.2021.119202","url":null,"abstract":"<div>Nanos proteins are essential for developing primordial germ cells (PGCs) in both invertebrates and vertebrates. In invertebrates, also contribute to the patterning of the anterior-posterior axis of the embryo and the neural development. In vertebrates, however, besides the role of Nanos proteins in PGC development, the biological functions of the proteins in normal development have not yet been identified. Here, we analyzed the expression and function of nanos1 during craniofacial development in zebrafish. nanos1 was expressed in the pharyngeal endoderm and endodermal pouches essential for the development of facial skeletons and endocrine glands in the vertebrate head. However, no craniofacial defects, such as abnormal pouches, hypoplasia of the thymus, malformed facial skeletons, have been found in nanos1 knockout animals. The normal craniofacial development of nanos1 knockout animals is unlikely a consequence of the genetic redundancy of Nanos1 with Nanos2 or Nanos3 or a result of the genetic compensation for the loss of Nanos1 by Nanos2 or Nanos3 because the expression of nanos2 and nanos3 was rarely seen in the pharyngeal endoderm and endodermal pouches in wild-type and nanos1 mutant animals during craniofacial development. Our findings suggest that nanos1 expression in the pharyngeal endoderm might be dispensable for craniofacial development in zebrafish.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"41 ","pages":"Article 119202"},"PeriodicalIF":1.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.gep.2021.119202","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39309282","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

Dynamic expression of FAM83D in peripheral organs at different ages in mice 不同年龄小鼠外周器官中FAM83D的动态表达

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119199

Qixian Li, Kaicheng Zhou, Demin Du, Yali Chen, Dekang Liu, Xiaowei Guan

引用次数: 0

Identification of a novel Sox5 transcript in mouse testis 小鼠睾丸中一个新的Sox5转录物的鉴定

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119197

Bangjin Zheng , Chaoyang Huang , Jian Zhou , Lan Ye

{"title":"Identification of a novel Sox5 transcript in mouse testis","authors":"Bangjin Zheng , Chaoyang Huang , Jian Zhou , Lan Ye","doi":"10.1016/j.gep.2021.119197","DOIUrl":"10.1016/j.gep.2021.119197","url":null,"abstract":"<div>The transcription factor SOX5 is present in two distinct isoforms in both human and mouse, L-SOX5 and S-SOX5 (long and short isoforms of SOX5). Here, we identified and characterized a novel transcript of Sox5 (S-Sox5 variant) in mouse testis. eCLIP-based amplification of cDNA ends were performed to identify the potential Sox5 mRNA variant. This novel transcript shares a high similarity with the previously reported S-Sox5 in nucleotide sequence, but with a unique stretch of 5′UTR and an additional exon 9. Semi-quantitative PCR analysis revealed both S-Sox5 variant and S-Sox5 express specifically in mouse testis. Both transcripts increase significantly in mouse testis at postnatal day 21, when round spermatids appear. We further made a series of truncated Sox5 constructs and tagged them with eGFP in HeLa cells. In vitro transfection assay identified the N-terminus and the DNA-binding HMG domain are required for the nuclear localization of SOX5. Our results provides a basis for the future study to investigate the biological function of SOX5 in spermatogenesis.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"41 ","pages":"Article 119197"},"PeriodicalIF":1.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.gep.2021.119197","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39127697","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: 3

Expression patterns and biological function of Specc1 during mouse preimplantation development spec1在小鼠着床前发育中的表达模式和生物学功能

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119196

Seulah Lee, Inchul Choi

{"title":"Expression patterns and biological function of Specc1 during mouse preimplantation development","authors":"Seulah Lee, Inchul Choi","doi":"10.1016/j.gep.2021.119196","DOIUrl":"10.1016/j.gep.2021.119196","url":null,"abstract":"<div>Two unique features occur during preimplantation embryo development: 1) initiation of calcium-dependent adhesion and establishment of apicobasal polarity in the morula, and 2) formation of the blastocoel by establishment of tight junctions (TJs), ion channels, and water channels in the outer blastomeres. Although several key genes involved in morula and blastocyst formation have been identified, most remain unknown. Sperm antigen with calponin homology and coiled-coil domains 1(SPECC1) is highly expressed in testis and tumor cells, and is involved in diverse cellular processes such as ribosome biogenesis, rRNA transcription, mitosis, cell growth, and apoptosis in tumor cells. However, spatiotemporal expressions of Specc1 during mouse preimplantation development have not yet been investigated. Here, we examined the expression patterns of Specc1 using qRT-PCR and immunocytochemistry, and its biological function using siRNA injection into 1-cell zygotes. Specc1 was detectable throughout preimplantation development and markedly increased from the morula stage onwards. It was particularly observed in trophectoderm cells, rather than the inner cell mass of blastocyst. Maternal and zygotic Specc1 transcripts were abolished using RNA interference. There were no significant differences in development between Specc1 knock down (KD) and control embryos until the morula stage, but was significantly reduced blastocyst development and increased tight junction permeability in KD embryos, as assessed by FITC uptake. In summary, elevated expression of Specc1 in the morula and blastocyst may affect blastocyst formation, including tight junction complex during the morula to blastocyst transition.</div>","PeriodicalId":55598,"journal":{"name":"Gene Expression Patterns","volume":"41 ","pages":"Article 119196"},"PeriodicalIF":1.2,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.gep.2021.119196","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39103815","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: 2

Oscillatory expression of Ascl1 in oligodendrogenesis Ascl1在少突胶质发生中的振荡表达

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119198

Risa Sueda , Ryoichiro Kageyama

引用次数: 5

Corrigendum to “On the origin of vertebrate body plan: Insights from the endoderm using the hourglass model” [Gene Expr. Patterns 37, 119125] 《关于脊椎动物身体计划的起源:利用沙漏模型从内胚层获得的见解》的勘误表[基因杂志]。图案37,119125]

IF 1.2 4区生物学

Gene Expression Patterns Pub Date : 2021-09-01 DOI: 10.1016/j.gep.2021.119186

Chunpeng He , Tingyu Han , Xin Liao , Rui Guan , J.-Y. Chen , Kimberly D. Tremblay , Zuhong Lu

引用次数: 0