Chromosoma最新文献

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Genetic background impacts the timing of synaptonemal complex breakdown in Drosophila melanogaster. 遗传背景对黑腹果蝇突触复合体分解时间的影响
IF 2.5 4区 生物学
Chromosoma Pub Date : 2020-12-01 Epub Date: 2020-10-17 DOI: 10.1007/s00412-020-00742-9
Emily R Wesley, R Scott Hawley, Katherine Kretovich Billmyre
{"title":"Genetic background impacts the timing of synaptonemal complex breakdown in Drosophila melanogaster.","authors":"Emily R Wesley, R Scott Hawley, Katherine Kretovich Billmyre","doi":"10.1007/s00412-020-00742-9","DOIUrl":"10.1007/s00412-020-00742-9","url":null,"abstract":"<p><p>Experiments performed in different genetic backgrounds occasionally exhibit failure in experimental reproducibility. This is a serious issue in Drosophila where there are no standard control stocks. Here, we illustrate the importance of controlling genetic background by showing that the timing of a major meiotic event, the breakdown of the synaptonemal complex (SC), varies in different genetic backgrounds. We assessed SC breakdown in three different control stocks and found that in one control stock, y w; sv<sup>spa-pol</sup>, the SC broke down earlier than in Oregon-R and w<sup>1118</sup> stocks. We further examined SC breakdown in these three control backgrounds with flies heterozygous for a null mutation in c(3)G, which encodes a key structural component of the SC. Flies heterozygous for c(3)G displayed differences in the timing of SC breakdown in different control backgrounds, providing evidence of a sensitizing effect of this mutation. These observations suggest that SC maintenance is associated with the dosage of c(3)G in some backgrounds. Lastly, chromosome segregation was not affected by premature SC breakdown in mid-prophase, consistent with previous findings that chromosome segregation is not dependent on full-length SC in mid-prophase. Thus, genetic background is an important variable to consider with respect to SC behavior during Drosophila meiosis.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38601419","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
Pericentromere clustering in Tradescantia section Rhoeo involves self-associations of AT- and GC-rich heterochromatin fractions, is developmentally regulated, and increases during differentiation. 在Rhoeo的Tradescantia切片中,中心粒聚集涉及富含AT和gc的异染色质组分的自我结合,受发育调节,并在分化过程中增加。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-12-01 Epub Date: 2020-07-17 DOI: 10.1007/s00412-020-00740-x
Hieronim Golczyk, Arleta Limanówka, Anna Uchman-Książek
{"title":"Pericentromere clustering in Tradescantia section Rhoeo involves self-associations of AT- and GC-rich heterochromatin fractions, is developmentally regulated, and increases during differentiation.","authors":"Hieronim Golczyk,&nbsp;Arleta Limanówka,&nbsp;Anna Uchman-Książek","doi":"10.1007/s00412-020-00740-x","DOIUrl":"https://doi.org/10.1007/s00412-020-00740-x","url":null,"abstract":"<p><p>A spectacular but poorly recognized nuclear repatterning is the association of heterochromatic domains during interphase. Using base-specific fluorescence and extended-depth-of-focus imaging, we show that the association of heterochromatic pericentromeres composed of AT- and GC-rich chromatin occurs on a large scale in cycling meiotic and somatic cells and during development in ring- and bivalent-forming Tradescantia spathacea (section Rhoeo) varieties. The mean number of pericentromere AT-rich domains per root meristem nucleus was ca. half the expected diploid number in both varieties, suggesting chromosome pairing via (peri)centromeric regions. Indeed, regular pairing of AT-rich domains was observed. The AT- and GC-rich associations in differentiated cells contributed to a significant reduction of the mean number of the corresponding foci per nucleus in relation to root meristem. Within the first 10 mm of the root, the pericentromere attraction was in progress, as if it was an active process and involved both AT- and GC-rich associations. Complying with Rabl arrangement, the pericentromeres preferentially located on one nuclear pole, clustered into diverse configurations. Among them, a strikingly regular one with 5-7 ring-arranged pericentromeric AT-rich domains may be potentially engaged in chromosome positioning during mitosis. The fluorescent pattern of pachytene meiocytes and somatic nuclei suggests the existence of a highly prescribed ring/chain type of chromocenter architecture with side-by-side arranged pericentromeric regions. The dynamics of pericentromere associations together with their non-random location within nuclei was compared with nuclear architecture in other organisms, including the widely explored Arabidopsis model.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00740-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38173952","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
Role of HP1β during spermatogenesis and DNA replication. HP1β在精子发生和DNA复制中的作用。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-12-01 Epub Date: 2020-07-10 DOI: 10.1007/s00412-020-00739-4
Vijay Charaka, Anjana Tiwari, Raj K Pandita, Clayton R Hunt, Tej K Pandita
{"title":"Role of HP1β during spermatogenesis and DNA replication.","authors":"Vijay Charaka,&nbsp;Anjana Tiwari,&nbsp;Raj K Pandita,&nbsp;Clayton R Hunt,&nbsp;Tej K Pandita","doi":"10.1007/s00412-020-00739-4","DOIUrl":"https://doi.org/10.1007/s00412-020-00739-4","url":null,"abstract":"<p><p>Heterochromatin protein 1β (HP1β), encoded by the Cbx1 gene, has been functionally linked to chromatin condensation, transcriptional regulation, and DNA damage repair. Here we report that testis-specific Cbx1 conditional knockout (Cbx1 cKO) impairs male germ cell development in mice. Depletion of HP1β negatively affected sperm maturation and increased seminiferous tubule degeneration in Cbx1 cKO mice. In addition, the spermatogonia have elevated γ-H2AX foci levels as do Cbx1 deficient mouse embryonic fibroblasts (MEFs) as compared to wild-type (WT) control MEFs. The increase in γ-H2AX foci in proliferating Cbx1 cKO cells indicates defective replication-dependent DNA damage repair. Depletion or loss of HP1β from human cells and MEFs increased DNA replication fork stalling and firing of new origins of replication, indicating defective DNA synthesis. Taken together, these results suggest that loss of HP1β in proliferating cells leads to DNA replication defects with associated DNA damage that impact spermatogenesis.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00739-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38142230","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: 4
Understanding the birth of rupture-prone and irreparable micronuclei. 了解易破裂和不可修复的微核的诞生。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-12-01 Epub Date: 2020-07-15 DOI: 10.1007/s00412-020-00741-w
Xihan Guo, Xueqin Dai, Xue Wu, Tao Zhou, Juan Ni, Jinglun Xue, Xu Wang
{"title":"Understanding the birth of rupture-prone and irreparable micronuclei.","authors":"Xihan Guo,&nbsp;Xueqin Dai,&nbsp;Xue Wu,&nbsp;Tao Zhou,&nbsp;Juan Ni,&nbsp;Jinglun Xue,&nbsp;Xu Wang","doi":"10.1007/s00412-020-00741-w","DOIUrl":"https://doi.org/10.1007/s00412-020-00741-w","url":null,"abstract":"<p><p>Micronuclei are extra-nuclear bodies mainly derived from ana-telophase lagging chromosomes/chromatins (LCs) that are not incorporated into primary nuclei at mitotic exit. Unlike primary nuclei, most micronuclei are enclosed by nuclear envelope (NE) that is highly susceptible to spontaneous and irreparable rupture. Ruptured micronuclei act as triggers of chromothripsis-like chaotic chromosomal rearrangements and cGAS-mediated innate immunity and inflammation, raising the view that micronuclei play active roles in human aging and tumorigenesis. Thus, understanding the ways in which micronuclear envelope (mNE) goes awry acquires increased importance. Here, we review the data to present a general framework for this question. We firstly describe NE reassembly after mitosis and NE repair during interphase. Simultaneously, we briefly discuss how mNE is organized and how mNE rupture controls the fate of micronuclei and micronucleated cells. As a focus of this review, we highlight current knowledge about why mNE is rupture-prone and irreparable. For this, we survey observations from a series of elegant studies to provide a systematic overview. We conclude that the birth of rupture-prone and irreparable micronuclei may be the cumulative effects of their intracellular geographic origins, biophysical properties, and specific mNE features. We propose that DNA damage and immunogenicity in micronuclei increase stepwise from altered mNE components, mNE rupture, and refractory to repair. Throughout our discussion, we note interesting issues in mNE fragility that have yet to be resolved.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00741-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38165574","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: 14
Various modes of HP1a interactions with the euchromatic chromosome arms in Drosophila ovarian somatic cells. 果蝇卵巢体细胞中HP1a与常染色染色体臂相互作用的各种模式。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-12-01 Epub Date: 2020-06-05 DOI: 10.1007/s00412-020-00738-5
Artem A Ilyin, Anastasia D Stolyarenko, Mikhail S Klenov, Yuri Y Shevelyov
{"title":"Various modes of HP1a interactions with the euchromatic chromosome arms in Drosophila ovarian somatic cells.","authors":"Artem A Ilyin,&nbsp;Anastasia D Stolyarenko,&nbsp;Mikhail S Klenov,&nbsp;Yuri Y Shevelyov","doi":"10.1007/s00412-020-00738-5","DOIUrl":"https://doi.org/10.1007/s00412-020-00738-5","url":null,"abstract":"<p><p>Heterochromatin protein 1a (HP1a) is a well-known component of pericentromeric and telomeric heterochromatin in Drosophila. However, its role and the mechanisms of its binding in the chromosome arms (ChAs) remain largely unclear. Here, we identified HP1a-interacting domains in the somatic cells of Drosophila ovaries using a DamID-seq approach and compared them with insertion sites of transposable elements (TEs) revealed by genome sequencing. Although HP1a domains cover only 13% of ChAs, they non-randomly associate with 42% of TE insertions. Furthermore, HP1a on average propagates at 2-kb distances from the TE insertions. These data confirm the role of TEs in formation of HP1a islands in ChAs. However, only 18% of HP1a domains have adjacent TEs, indicating the existence of other mechanisms of HP1a domain formation besides spreading from TEs. In particular, many TE-independent HP1a domains correspond to the regions attached to the nuclear pore complexes (NPCs) or contain active gene promoters. However, HP1a occupancy on the promoters does not significantly influence expression of corresponding genes. At the same time, the steady-state transcript level of many genes located outside of HP1a domains was altered upon HP1a knockdown in the somatic cells of ovaries, thus pointing to the strong indirect effect of HP1a depletion. Collectively, our results support an existence of at least three different mechanisms of HP1a domain emergence in ChAs: spreading from TE insertions, transient interactions with the chromatin located near NPCs, and targeting to the promoters of moderately expressed genes.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00738-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38011942","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: 5
Condensin I is required for faithful meiosis in Drosophila males. 雄果蝇忠实的减数分裂需要凝缩素 I。
IF 2.5 4区 生物学
Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-04-08 DOI: 10.1007/s00412-020-00733-w
Kristina Kleinschnitz, Nina Vießmann, Mareike Jordan, Stefan K Heidmann
{"title":"Condensin I is required for faithful meiosis in Drosophila males.","authors":"Kristina Kleinschnitz, Nina Vießmann, Mareike Jordan, Stefan K Heidmann","doi":"10.1007/s00412-020-00733-w","DOIUrl":"10.1007/s00412-020-00733-w","url":null,"abstract":"<p><p>The heteropentameric condensin complexes play vital roles in the formation and faithful segregation of mitotic chromosomes in eukaryotes. While the different contributions of the two common condensin complexes, condensin I and condensin II, to chromosome morphology and behavior in mitosis have been thoroughly investigated, much less is known about the specific roles of the two complexes during meiotic divisions. In Drosophila melanogaster, faithful mitotic divisions depend on functional condensin I, but not on condensin II. However, meiotic divisions in Drosophila males require functional condensin II subunits. The role of condensin I during male meiosis in Drosophila has been unresolved. Here, we show that condensin I-specific subunits localize to meiotic chromatin in both meiosis I and II during Drosophila spermatogenesis. Live cell imaging reveals defects during meiotic divisions after RNAi-mediated knockdown of condensin I-specific mRNAs. This phenotype correlates with reduced male fertility and an increase in nondisjunction events both in meiosis I and meiosis II. Consistently, a reduction in male fertility was also observed after proteasome-mediated degradation of the condensin I subunit Barren. Taken together, our results demonstrate an essential role of condensin I during male meiosis in Drosophila melanogaster.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37855773","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
shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination. 小鼠shani突变影响Spata22剪接,导致减数分裂重组受损。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-05-10 DOI: 10.1007/s00412-020-00735-8
Cynthia Petrillo, Vilma Barroca, Jonathan Ribeiro, Nathalie Lailler, Gabriel Livera, Scott Keeney, Emmanuelle Martini, Devanshi Jain
{"title":"shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination.","authors":"Cynthia Petrillo,&nbsp;Vilma Barroca,&nbsp;Jonathan Ribeiro,&nbsp;Nathalie Lailler,&nbsp;Gabriel Livera,&nbsp;Scott Keeney,&nbsp;Emmanuelle Martini,&nbsp;Devanshi Jain","doi":"10.1007/s00412-020-00735-8","DOIUrl":"https://doi.org/10.1007/s00412-020-00735-8","url":null,"abstract":"<p><p>Recombination is crucial for chromosome pairing and segregation during meiosis. SPATA22, along with its direct binding partner and functional collaborator, MEIOB, is essential for the proper repair of double-strand breaks (DSBs) during meiotic recombination. Here, we describe a novel point-mutated allele (shani) of mouse Spata22 that we isolated in a forward genetic screen. shani mutant mice phenocopy Spata22-null and Meiob-null mice: mutant cells appear to form DSBs and initiate meiotic recombination, but are unable to complete DSB repair, leading to meiotic prophase arrest, apoptosis and sterility. shani mutants show precocious loss of DMC1 foci and improper accumulation of BLM-positive recombination foci, reinforcing the requirement of SPATA22-MEIOB for the proper progression of meiotic recombination events. The shani mutation lies within a Spata22 coding exon and molecular characterization shows that it leads to incorrect splicing of the Spata22 mRNA, ultimately resulting in no detectable SPATA22 protein. We propose that the shani mutation alters an exonic splicing enhancer element (ESE) within the Spata22 transcript. The affected DNA nucleotide is conserved in most tetrapods examined, suggesting that the splicing regulation we describe here may be a conserved feature of Spata22 regulation.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00735-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37919584","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: 5
Kinesin-8 motors: regulation of microtubule dynamics and chromosome movements. 驱动蛋白8马达:微管动力学和染色体运动的调节。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-05-17 DOI: 10.1007/s00412-020-00736-7
Yang Lin, Ya-Lan Wei, Zhen-Yu She
{"title":"Kinesin-8 motors: regulation of microtubule dynamics and chromosome movements.","authors":"Yang Lin,&nbsp;Ya-Lan Wei,&nbsp;Zhen-Yu She","doi":"10.1007/s00412-020-00736-7","DOIUrl":"https://doi.org/10.1007/s00412-020-00736-7","url":null,"abstract":"<p><p>Microtubules are essential for intracellular transport, cell motility, spindle assembly, and chromosome segregation during cell division. Microtubule dynamics regulate the proper spindle organization and thus contribute to chromosome congression and segregation. Accumulating studies suggest that kinesin-8 motors are emerging regulators of microtubule dynamics and organizations. In this review, we provide an overview of the studies focused on kinesin-8 motors in cell division. We discuss the structures and molecular kinetics of kinesin-8 motors. We highlight the essential roles and mechanisms of kinesin-8 in the regulation of microtubule dynamics and spindle organization. We also shed light on the functions of kinesin-8 motors in chromosome movement and the spindle assembly checkpoint during the cell cycle.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00736-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37945116","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: 6
Distinct features of nucleolus-associated domains in mouse embryonic stem cells. 小鼠胚胎干细胞核仁相关结构域的独特特征。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-03-26 DOI: 10.1007/s00412-020-00734-9
Aizhan Bizhanova, Aimin Yan, Jun Yu, Lihua Julie Zhu, Paul D Kaufman
{"title":"Distinct features of nucleolus-associated domains in mouse embryonic stem cells.","authors":"Aizhan Bizhanova,&nbsp;Aimin Yan,&nbsp;Jun Yu,&nbsp;Lihua Julie Zhu,&nbsp;Paul D Kaufman","doi":"10.1007/s00412-020-00734-9","DOIUrl":"https://doi.org/10.1007/s00412-020-00734-9","url":null,"abstract":"<p><p>Heterochromatin in eukaryotic interphase cells frequently localizes to the nucleolar periphery (nucleolus-associated domains (NADs)) and the nuclear lamina (lamina-associated domains (LADs)). Gene expression in somatic cell NADs is generally low, but NADs have not been characterized in mammalian stem cells. Here, we generated the first genome-wide map of NADs in mouse embryonic stem cells (mESCs) via deep sequencing of chromatin associated with biochemically purified nucleoli. As we had observed in mouse embryonic fibroblasts (MEFs), the large type I subset of NADs overlaps with constitutive LADs and is enriched for features of constitutive heterochromatin, including late replication timing and low gene density and expression levels. Conversely, the type II NAD subset overlaps with loci that are not lamina-associated, but in mESCs, type II NADs are much less abundant than in MEFs. mESC NADs are also much less enriched in H3K27me3 modified regions than are NADs in MEFs. Additionally, comparision of MEF and mESC NADs revealed enrichment of developmentally regulated genes in cell-type-specific NADs. Together, these data indicate that NADs are a developmentally dynamic component of heterochromatin. These studies implicate association with the nucleolar periphery as a mechanism for developmentally regulated gene expression and will facilitate future studies of NADs during mESC differentiation.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00734-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37777493","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: 13
Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop. 原发性小头畸形及相关疾病的分子原因:联合国国际事务管理局研讨会报告。
IF 1.6 4区 生物学
Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-05-18 DOI: 10.1007/s00412-020-00737-6
Travis H Stracker, Ciaran G Morrison, Fanni Gergely
{"title":"Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop.","authors":"Travis H Stracker, Ciaran G Morrison, Fanni Gergely","doi":"10.1007/s00412-020-00737-6","DOIUrl":"10.1007/s00412-020-00737-6","url":null,"abstract":"<p><p>The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA and China to discuss recent advances in our molecular and genetic understanding of a group of rare neurodevelopmental diseases characterised by primary microcephaly, a condition in which head circumference is smaller than normal at birth. Microcephaly can be caused by inherited mutations that affect key cellular processes, or environmental exposure to radiation or other toxins. It can also result from viral infection, as exemplified by the recent Zika virus outbreak in South America. Here we summarise a number of the scientific advances presented and topics discussed at the meeting.</p>","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37950725","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
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