Current Topics in Developmental Biology最新文献_第9页

Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease. 光感受器外节段蛋白质和脂质组成的控制-视网膜疾病的意义。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2023-10-05 DOI: 10.1016/bs.ctdb.2023.09.001

Markus Masek, Ruxandra Bachmann-Gagescu

{"title":"Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease.","authors":"Markus Masek, Ruxandra Bachmann-Gagescu","doi":"10.1016/bs.ctdb.2023.09.001","DOIUrl":"10.1016/bs.ctdb.2023.09.001","url":null,"abstract":"Vision is arguably our most important sense, and its loss brings substantial limitations to daily life for affected individuals. Light is perceived in retinal photoreceptors (PRs), which are highly specialized neurons subdivided into several compartments with distinct functions. The outer segments (OSs) of photoreceptors represent highly specialized primary ciliary compartments hosting the phototransduction cascade, which transforms incoming light into a neuronal signal. Retinal disease can result from various pathomechanisms originating in distinct subcompartments of the PR cell, or in the retinal pigment epithelium which supports the PRs. Dysfunction of primary cilia causes human disorders known as \"ciliopathies\", in which retinal disease is a common feature. This chapter focuses on PR OSs, discussing the mechanisms controlling their complex structure and composition. A sequence of tightly regulated sorting and trafficking events, both upstream of and within this ciliary compartment, ensures the establishment and maintenance of the adequate proteome and lipidome required for signaling in response to light. We discuss in particular our current understanding of the role of ciliopathy proteins involved in multi-protein complexes at the ciliary transition zone (CC2D2A) or BBSome (BBS1) and how their dysfunction causes retinal disease. While the loss of CC2D2A prevents the fusion of vesicles and delivery of the photopigment rhodopsin to the ciliary base, leading to early OS ultrastructural defects, BBS1 deficiency results in precocious accumulation of cholesterol in mutant OSs and decreased visual function preceding morphological changes. These distinct pathomechanisms underscore the central role of ciliary proteins involved in multiple processes controlling OS protein and lipid composition.","PeriodicalId":55191,"journal":{"name":"Current Topics in Developmental Biology","volume":"155 ","pages":"165-225"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Functions of the primary cilium in the kidney and its connection with renal diseases. 肾脏初级纤毛的功能及其与肾脏疾病的关系。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2023-08-16 DOI: 10.1016/bs.ctdb.2023.07.001

Kelsey R Clearman, Courtney J Haycraft, Mandy J Croyle, James F Collawn, Bradley K Yoder

{"title":"Functions of the primary cilium in the kidney and its connection with renal diseases.","authors":"Kelsey R Clearman, Courtney J Haycraft, Mandy J Croyle, James F Collawn, Bradley K Yoder","doi":"10.1016/bs.ctdb.2023.07.001","DOIUrl":"10.1016/bs.ctdb.2023.07.001","url":null,"abstract":"The nonmotile primary cilium is a sensory structure found on most mammalian cell types that integrates multiple signaling pathways involved in tissue development and postnatal function. As such, mutations disrupting cilia activities cause a group of disorders referred to as ciliopathies. These disorders exhibit a wide spectrum of phenotypes impacting nearly every tissue. In the kidney, primary cilia dysfunction caused by mutations in polycystin 1 (Pkd1), polycystin 2 (Pkd2), or polycystic kidney and hepatic disease 1 (Pkhd1), result in polycystic kidney disease (PKD), a progressive disorder causing renal functional decline and end-stage renal disease. PKD affects nearly 1 in 1000 individuals and as there is no cure for PKD, patients frequently require dialysis or renal transplantation. Pkd1, Pkd2, and Pkhd1 encode membrane proteins that all localize in the cilium. Pkd1 and Pkd2 function as a nonselective cation channel complex while Pkhd1 protein function remains uncertain. Data indicate that the cilium may act as a mechanosensor to detect fluid movement through renal tubules. Other functions proposed for the cilium and PKD proteins in cyst development involve regulation of cell cycle and oriented division, regulation of renal inflammation and repair processes, maintenance of epithelial cell differentiation, and regulation of mitochondrial structure and metabolism. However, how loss of cilia or cilia function leads to cyst development remains elusive. Studies directed at understanding the roles of Pkd1, Pkd2, and Pkhd1 in the cilium and other locations within the cell will be important for developing therapeutic strategies to slow cyst progression.","PeriodicalId":55191,"journal":{"name":"Current Topics in Developmental Biology","volume":"155 ","pages":"39-94"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 role of polarization and early heterogeneities in the mammalian first cell fate decision. 极化和早期异质性在哺乳动物第一细胞命运决定中的作用。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 DOI: 10.1016/bs.ctdb.2023.02.006

Adiyant Lamba, Magdalena Zernicka-Goetz

{"title":"The role of polarization and early heterogeneities in the mammalian first cell fate decision.","authors":"Adiyant Lamba, Magdalena Zernicka-Goetz","doi":"10.1016/bs.ctdb.2023.02.006","DOIUrl":"https://doi.org/10.1016/bs.ctdb.2023.02.006","url":null,"abstract":"The first cell fate decision is the process by which cells of an embryo take on distinct lineage identities for the first time, representing the beginning of patterning during development. In mammals, this process separates an embryonic inner cell mass lineage (future new organism) from an extra-embryonic trophectoderm lineage (future placenta), and in the mouse, this is classically attributed to the consequences of apical-basal polarity. The mouse embryo acquires this polarity at the 8-cell stage, indicated by cap-like protein domains on the apical surface of each cell; those cells which retain polarity over subsequent divisions are specified as trophectoderm, and the rest as inner cell mass. Recent research has advanced our knowledge of this process - this review will discuss mechanisms behind the establishment of polarity and distribution of the apical domain, different factors affecting the first cell fate decision including heterogeneities between cells of the very early embryo, and the conservation of developmental mechanisms across species, including human.","PeriodicalId":55191,"journal":{"name":"Current Topics in Developmental Biology","volume":"154 ","pages":"169-196"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291876/pdf/nihms-1903608.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9706377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Gene-alcohol interactions in birth defects. 出生缺陷中基因与酒精的相互作用。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2022-11-14 DOI: 10.1016/bs.ctdb.2022.10.003

Joshua L Everson, Johann K Eberhart

引用次数: 0

Transgenerational inheritance and its modulation by environmental cues. 跨代遗传及其受环境线索的调节。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2022-11-14 DOI: 10.1016/bs.ctdb.2022.10.002

Roxane Verdikt, Abigail A Armstrong, Patrick Allard

引用次数: 3

Fat and Dachsous cadherins in mammalian development. 哺乳动物发育过程中的脂肪和粘连蛋白。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 DOI: 10.1016/bs.ctdb.2023.02.008

Jennysue Kasiah, Helen McNeill

引用次数: 0

Meiotic chromosome organization and its role in recombination and cancer. 减数分裂染色体组织及其在重组和癌症中的作用。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2022-06-20 DOI: 10.1016/bs.ctdb.2022.04.008

Chris Morgan, Aditya Nayak, Noriko Hosoya, Gerald R Smith, Christophe Lambing

{"title":"Meiotic chromosome organization and its role in recombination and cancer.","authors":"Chris Morgan, Aditya Nayak, Noriko Hosoya, Gerald R Smith, Christophe Lambing","doi":"10.1016/bs.ctdb.2022.04.008","DOIUrl":"10.1016/bs.ctdb.2022.04.008","url":null,"abstract":"Chromosomes adopt specific conformations to regulate various cellular processes. A well-documented chromosome configuration is the highly compacted chromosome structure during metaphase. More regional chromatin conformations have also been reported, including topologically associated domains encompassing mega-bases of DNA and local chromatin loops formed by kilo-bases of DNA. In this review, we discuss the changes in chromatin conformation taking place between somatic and meiotic cells, with a special focus on the establishment of a proteinaceous structure, called the chromosome axis, at the beginning of meiosis. The chromosome axis is essential to support key meiotic processes such as chromosome pairing, homologous recombination, and balanced chromosome segregation to transition from a diploid to a haploid stage. We review the role of the chromosome axis in meiotic chromatin organization and provide a detailed description of its protein composition. We also review the conserved and distinct roles between species of axis proteins in meiotic recombination, which is a major factor contributing to the creation of genetic diversity and genome evolution. Finally, we discuss situations where the chromosome axis is deregulated and evaluate the effects on genome integrity and the consequences from protein deregulation in meiocytes exposed to heat stress, and aberrant expression of genes encoding axis proteins in mammalian somatic cells associated with certain types of cancers.","PeriodicalId":55191,"journal":{"name":"Current Topics in Developmental Biology","volume":"151 ","pages":"91-126"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9505756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 role of Wnt signaling in the development of the epiblast and axial progenitors. Wnt信号在外胚层和轴向祖细胞发育中的作用。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 DOI: 10.1016/bs.ctdb.2023.01.010

Ruby E Schnirman, Samuel J Kuo, Ryan C Kelly, Terry P Yamaguchi

引用次数: 0

Polarity in respiratory development, homeostasis and disease. 呼吸发育、体内平衡和疾病中的极性。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 DOI: 10.1016/bs.ctdb.2023.02.004

Andrew M Tilston-Lunel, Xaralabos Varelas

引用次数: 0

Gene×environment interactions in autism spectrum disorders. 自闭症谱系障碍的基因×环境相互作用。

2区生物学

Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2022-12-19 DOI: 10.1016/bs.ctdb.2022.11.001

Kimberly Keil-Stietz, Pamela J Lein

{"title":"Gene×environment interactions in autism spectrum disorders.","authors":"Kimberly Keil-Stietz, Pamela J Lein","doi":"10.1016/bs.ctdb.2022.11.001","DOIUrl":"10.1016/bs.ctdb.2022.11.001","url":null,"abstract":"There is credible evidence that environmental factors influence individual risk and/or severity of autism spectrum disorders (hereafter referred to as autism). While it is likely that environmental chemicals contribute to the etiology of autism via multiple mechanisms, identifying specific environmental factors that confer risk for autism and understanding how they contribute to the etiology of autism has been challenging, in part because the influence of environmental chemicals likely varies depending on the genetic substrate of the exposed individual. Current research efforts are focused on elucidating the mechanisms by which environmental chemicals interact with autism genetic susceptibilities to adversely impact neurodevelopment. The goal is to not only generate insights regarding the pathophysiology of autism, but also inform the development of screening platforms to identify specific environmental factors and gene×environment (G×E) interactions that modify autism risk. Data from such studies are needed to support development of intervention strategies for mitigating the burden of this neurodevelopmental condition on individuals, their families and society. In this review, we discuss environmental chemicals identified as putative autism risk factors and proposed mechanisms by which G×E interactions influence autism risk and/or severity using polychlorinated biphenyls (PCBs) as an example.","PeriodicalId":55191,"journal":{"name":"Current Topics in Developmental Biology","volume":"152 ","pages":"221-284"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496028/pdf/nihms-1929250.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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