Chromosoma最新文献_第9页

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, Vilma Barroca, Jonathan Ribeiro, Nathalie Lailler, Gabriel Livera, Scott Keeney, Emmanuelle Martini, Devanshi Jain","doi":"10.1007/s00412-020-00735-8","DOIUrl":"https://doi.org/10.1007/s00412-020-00735-8","url":null,"abstract":"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.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 2","pages":"161-179"},"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

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, Aimin Yan, Jun Yu, Lihua Julie Zhu, Paul D Kaufman","doi":"10.1007/s00412-020-00734-9","DOIUrl":"https://doi.org/10.1007/s00412-020-00734-9","url":null,"abstract":"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.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 2","pages":"121-139"},"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

引用次数: 0

Dampened X-chromosomes in human pluripotent stem cells: dampening or erasure of X-upregulation? 人类多能干细胞中被抑制的x染色体:抑制还是消除x上调?

IF 1.6 4区生物学

Chromosoma Pub Date : 2020-06-01 Epub Date: 2019-07-04 DOI: 10.1007/s00412-019-00717-5

Harman Kaur, Pavithra Rv, Srimonta Gayen

引用次数: 7

Copy-number variation introduced by long transgenes compromises mouse male fertility independently of pachytene checkpoints. 长转基因引入的拷贝数变异独立于粗线蛋白检查点影响小鼠雄性生育力。

IF 1.6 4区生物学

Chromosoma Pub Date : 2020-03-01 Epub Date: 2020-01-15 DOI: 10.1007/s00412-019-00730-8

Ondrej Mihola, Tatyana Kobets, Klara Krivankova, Eliska Linhartova, Srdjan Gasic, John C Schimenti, Zdenek Trachtulec

{"title":"Copy-number variation introduced by long transgenes compromises mouse male fertility independently of pachytene checkpoints.","authors":"Ondrej Mihola, Tatyana Kobets, Klara Krivankova, Eliska Linhartova, Srdjan Gasic, John C Schimenti, Zdenek Trachtulec","doi":"10.1007/s00412-019-00730-8","DOIUrl":"https://doi.org/10.1007/s00412-019-00730-8","url":null,"abstract":"Long transgenes are often used in mammalian genetics, e.g., to rescue mutations in large genes. In the course of experiments addressing the genetic basis of hybrid sterility caused by meiotic defects in mice bearing different alleles of Prdm9, we discovered that introduction of copy-number variation (CNV) via two independent insertions of long transgenes containing incomplete Prdm9 decreased testicular weight and epididymal sperm count. Transgenic animals displayed increased occurrence of seminiferous tubules with apoptotic cells at 18 days postpartum (dpp) corresponding to late meiotic prophase I, but not at 21 dpp. We hypothesized that long transgene insertions could cause asynapsis, but the immunocytochemical data revealed that the adult transgenic testes carried a similar percentage of asynaptic pachytene spermatocytes as the controls. These transgenic spermatocytes displayed less crossovers but similar numbers of unrepaired meiotic breaks. Despite slightly increased frequency of metaphase I spermatocytes with univalent chromosome(s) and reduced numbers of metaphase II spermatocytes, cytological studies did not reveal increased apoptosis in tubules containing the metaphase spermatocytes, but found an increased percentage of tubules carrying apoptotic spermatids. Sperm counts of subfertile animals inversely correlated with the transcription levels of the Psmb1 gene encoded within these two transgenes. The effect of the transgenes was dependent on sex and genetic background. Our results imply that the fertility of transgenic hybrid animals is not compromised by the impaired meiotic synapsis of homologous chromosomes, but can be negatively influenced by the increased expression of the introduced genes.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 1","pages":"69-82"},"PeriodicalIF":1.6,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-019-00730-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37544832","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

Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys. 猴的染色体同源物维持了800万年的杂合性。

IF 1.6 4区生物学

Chromosoma Pub Date : 2020-03-01 Epub Date: 2020-01-10 DOI: 10.1007/s00412-020-00731-y

Doron Tolomeo, Oronzo Capozzi, Giorgia Chiatante, Luca Sineo, Takafumi Ishida, Nicoletta Archidiacono, Mariano Rocchi, Roscoe Stanyon

{"title":"Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys.","authors":"Doron Tolomeo, Oronzo Capozzi, Giorgia Chiatante, Luca Sineo, Takafumi Ishida, Nicoletta Archidiacono, Mariano Rocchi, Roscoe Stanyon","doi":"10.1007/s00412-020-00731-y","DOIUrl":"https://doi.org/10.1007/s00412-020-00731-y","url":null,"abstract":"In the Cercopithecini ancestor two chromosomes, homologous to human chromosomes 20 and 21, fused to form the Cercopithecini specific 20/21 association. In some individuals from the genus Cercopithecus, this association was shown to be polymorphic for the position of the centromere, suggesting centromere repositioning events. We set out to test this hypothesis by defining the evolutionary history of the 20/21 association in four Cercopithecini species from three different genera. The marker order of the various 20/21 associations was established using molecular cytogenetic techniques, including an array of more than 100 BACs. We discovered that five different forms of the 20/21 association were present in the four studied Cercopithecini species. Remarkably, in the two Cercopithecus species, we found individuals in which one homolog conserved the ancestral condition, but the other homolog was highly rearranged. The phylogenetic analysis showed that the heterozygosity in these two species originated about 8 million years ago and was maintained for this entire arc of time, surviving multiple speciation events. Our report is a remarkable extension of Dobzhansky's pioneering observation in Drosophila concerning the maintenance of chromosomal heterozygosity due to selective advantage. Dobzhansky's hypothesis recently received strong support in a series of detailed reports on the fruit fly genome. Our findings are first extension to primates, indeed to Old World monkeys phylogenetically close to humans of an analogous situation. Our results have important implications for hypotheses on how chromosome rearrangements, selection, and speciation are related.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 1","pages":"57-67"},"PeriodicalIF":1.6,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-020-00731-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37532961","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: 1

Heterochromatin formation in Drosophila requires genome-wide histone deacetylation in cleavage chromatin before mid-blastula transition in early embryogenesis. 果蝇异染色质的形成需要在早期胚胎发育中期母细胞过渡之前裂解染色质中的全基因组组蛋白去乙酰化。

IF 2.5 4区生物学

Chromosoma Pub Date : 2020-03-01 Epub Date: 2020-01-16 DOI: 10.1007/s00412-020-00732-x

Matthias Walther, Sandy Schrahn, Veiko Krauss, Sandro Lein, Jeannette Kessler, Thomas Jenuwein, Gunter Reuter

{"title":"Heterochromatin formation in Drosophila requires genome-wide histone deacetylation in cleavage chromatin before mid-blastula transition in early embryogenesis.","authors":"Matthias Walther, Sandy Schrahn, Veiko Krauss, Sandro Lein, Jeannette Kessler, Thomas Jenuwein, Gunter Reuter","doi":"10.1007/s00412-020-00732-x","DOIUrl":"10.1007/s00412-020-00732-x","url":null,"abstract":"Su(var) mutations define epigenetic factors controlling heterochromatin formation and gene silencing in Drosophila. Here, we identify SU(VAR)2-1 as a novel chromatin regulator that directs global histone deacetylation during the transition of cleavage chromatin into somatic blastoderm chromatin in early embryogenesis. SU(VAR)2-1 is heterochromatin-associated in blastoderm nuclei but not in later stages of development. In larval polytene chromosomes, SU(VAR)2-1 is a band-specific protein. SU(VAR)2-1 directs global histone deacetylation by recruiting the histone deacetylase RPD3. In Su(var)2-1 mutants H3K9, H3K27, H4K8 and H4K16 acetylation shows elevated levels genome-wide and heterochromatin displays aberrant histone hyper-acetylation. Whereas H3K9me2- and HP1a-binding appears unaltered, the heterochromatin-specific H3K9me2S10ph composite mark is impaired in heterochromatic chromocenters of larval salivary polytene chromosomes. SU(VAR)2-1 contains an NRF1/EWG domain and a C2HC zinc-finger motif. Our study identifies SU(VAR)2-1 as a dosage-dependent, heterochromatin-initiating SU(VAR) factor, where the SU(VAR)2-1-mediated control of genome-wide histone deacetylation after cleavage and before mid-blastula transition (pre-MBT) is required to enable heterochromatin formation.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 1","pages":"83-98"},"PeriodicalIF":2.5,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37554395","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

Species-specific abundant retrotransposons elucidate the genomic composition of modern sugarcane cultivars. 物种特异的大量反转录转座子阐明了现代甘蔗品种的基因组组成。

IF 1.6 4区生物学

Chromosoma Pub Date : 2020-03-01 Epub Date: 2019-12-17 DOI: 10.1007/s00412-019-00729-1

Yongji Huang, Hong Chen, Jinlei Han, Ya Zhang, Shulin Ma, Guangrun Yu, Zonghua Wang, Kai Wang

{"title":"Species-specific abundant retrotransposons elucidate the genomic composition of modern sugarcane cultivars.","authors":"Yongji Huang, Hong Chen, Jinlei Han, Ya Zhang, Shulin Ma, Guangrun Yu, Zonghua Wang, Kai Wang","doi":"10.1007/s00412-019-00729-1","DOIUrl":"https://doi.org/10.1007/s00412-019-00729-1","url":null,"abstract":"Modern sugarcane cultivars are highly polyploid and derived from the hybridization of Saccharum officinarum and S. spontaneum, thus leading to singularly complex genomes. The complex genome has hindered the study of genomic structures. Here, we adopted a computational strategy to isolate highly repetitive and abundant sequences in either S. officinarum or S. spontaneum and isolated four S. spontaneum-enriched retrotransposons. Fluorescence in situ hybridization (FISH) assays with these repetitive DNA sequences generated whole-genome painting signals for S. spontaneum but not for S. officinarum. We demonstrated that these repetitive sequence-based probes distinguish the parental S. spontaneum genome in hybrids derived from crosses between it and S. officinarum. A cytological analysis of 14 modern sugarcane cultivars revealed that the percentages of chromosomes with introgressive S. spontaneum fragments ranged from 11.9 to 40.9% and substantially exceeded those determined for previously investigated cultivars (5-13%). The comparatively higher percentages of introgressive S. spontaneum fragments detected in the aforementioned cultivars indicate frequent recombination between parental genomes. Here, we present the application of our strategy to isolate species-specific cytological markers. This information may help to elucidate complex plant genomic structures and trace their evolutionary histories.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"129 1","pages":"45-55"},"PeriodicalIF":1.6,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00412-019-00729-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37467344","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: 10

Faint gray bands in Drosophila melanogaster polytene chromosomes are formed by coding sequences of housekeeping genes 果蝇多线染色体上的淡灰色条带是由家政基因的编码序列形成的

IF 1.6 4区生物学

Chromosoma Pub Date : 2019-12-09 DOI: 10.1007/s00412-019-00728-2

O. Demakova, S. A. Demakov, L. Boldyreva, T. Zykova, V. Levitsky, V. Semeshin, G. Pokholkova, Darya S. Sidorenko, Fedor P. Goncharov, E. Belyaeva, I. Zhimulev

引用次数: 4