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[PMID]:28459185
[Au] Autor:Gould RL; Griffin DK
[Ad] Endereço:a The Bridge Centre , London , UK.
[Ti] Título:Karyomapping and how is it improving preimplantation genetics?
[So] Source:Expert Rev Mol Diagn;17(6):611-621, 2017 Jun.
[Is] ISSN:1744-8352
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different. Areas covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review. Expert commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.
[Mh] Termos MeSH primário: Testes Genéticos/métodos
Cariotipagem/métodos
Mapeamento Físico do Cromossomo/métodos
Diagnóstico Pré-Implantação/métodos
[Mh] Termos MeSH secundário: Testes Genéticos/normas
Seres Humanos
Cariotipagem/normas
Mapeamento Físico do Cromossomo/normas
Diagnóstico Pré-Implantação/normas
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1080/14737159.2017.1325736


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[PMID]:29176878
[Au] Autor:Shen C; Li X; Zhang R; Lin Z
[Ad] Endereço:National Key Laboratory of Crop Genetic Improvement, College of Plant Science & Technology, Huazhong Agricultural University, Wuhan, Hubei, China.
[Ti] Título:Genome-wide recombination rate variation in a recombination map of cotton.
[So] Source:PLoS One;12(11):e0188682, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recombination is crucial for genetic evolution, which not only provides new allele combinations but also influences the biological evolution and efficacy of natural selection. However, recombination variation is not well understood outside of the complex species' genomes, and it is particularly unclear in Gossypium. Cotton is the most important natural fibre crop and the second largest oil-seed crop. Here, we found that the genetic and physical maps distances did not have a simple linear relationship. Recombination rates were unevenly distributed throughout the cotton genome, which showed marked changes along the chromosome lengths and recombination was completely suppressed in the centromeric regions. Recombination rates significantly varied between A-subgenome (At) (range = 1.60 to 3.26 centimorgan/megabase [cM/Mb]) and D-subgenome (Dt) (range = 2.17 to 4.97 cM/Mb), which explained why the genetic maps of At and Dt are similar but the physical map of Dt is only half that of At. The translocation regions between A02 and A03 and between A04 and A05, and the inversion regions on A10, D10, A07 and D07 indicated relatively high recombination rates in the distal regions of the chromosomes. Recombination rates were positively correlated with the densities of genes, markers and the distance from the centromere, and negatively correlated with transposable elements (TEs). The gene ontology (GO) categories showed that genes in high recombination regions may tend to response to environmental stimuli, and genes in low recombination regions are related to mitosis and meiosis, which suggested that they may provide the primary driving force in adaptive evolution and assure the stability of basic cell cycle in a rapidly changing environment. Global knowledge of recombination rates will facilitate genetics and breeding in cotton.
[Mh] Termos MeSH primário: Mapeamento Cromossômico
Genoma de Planta
Gossypium/genética
Recombinação Genética
[Mh] Termos MeSH secundário: Cromossomos de Plantas/genética
Elementos de DNA Transponíveis/genética
Ontologia Genética
Genes de Plantas
Marcadores Genéticos
Mapeamento Físico do Cromossomo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA Transposable Elements); 0 (Genetic Markers)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171219
[Lr] Data última revisão:
171219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0188682


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[PMID]:28850953
[Au] Autor:Biltueva LS; Prokopov DY; Makunin AI; Komissarov AS; Kudryavtseva AV; Lemskaya NA; Vorobieva NV; Serdyukova NA; Romanenko SA; Gladkikh OL; Graphodatsky AS; Trifonov VA
[Ad] Endereço:Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia.
[Ti] Título:Genomic Organization and Physical Mapping of Tandemly Arranged Repetitive DNAs in Sterlet (Acipenser ruthenus).
[So] Source:Cytogenet Genome Res;152(3):148-157, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Acipenseriformes represent a phylogenetically basal clade of ray-finned fish characterized by unusual genomic traits, including paleopolyploid states of extant genomes with high chromosome numbers and slow rates of molecular evolution. Despite a high interest in this fish group, only a limited number of studies have been accomplished on the isolation and characterization of repetitive DNA, karyotype standardization is not yet complete, and sex chromosomes are still to be identified. Here, we applied next-generation sequencing and cluster analysis to characterize major fractions of sterlet (Acipenser ruthenus) repetitive DNA. Using FISH, we mapped 16 tandemly arranged sequences on sterlet chromosomes and found them to be unevenly distributed in the genome with a tendency to cluster in particular regions. Some of the satellite DNAs might be used as specific markers to identify individual chromosomes and their paralogs, resulting in the unequivocal identification of at least 18 chromosome pairs. Our results provide an insight into the characteristic genomic distribution of the most common sterlet repetitive sequences. Biased accumulation of repetitive DNAs in particular chromosomes makes them especially interesting for further search for cryptic sex chromosomes. Future studies of these sequences in other acipenserid species will provide new perspectives regarding the evolution of repetitive DNA within the genomes of this fish order.
[Mh] Termos MeSH primário: DNA Satélite/genética
Peixes/genética
Cromossomos Sexuais/genética
[Mh] Termos MeSH secundário: Animais
DNA Ribossômico/genética
Evolução Molecular
Marcadores Genéticos
Hibridização in Situ Fluorescente
Cariotipagem
Microdissecção
Mapeamento Físico do Cromossomo
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Ribosomal); 0 (DNA, Satellite); 0 (Genetic Markers)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE
[do] DOI:10.1159/000479472


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[PMID]:28719910
[Au] Autor:Bustamante FO; Aliyeva-Schnorr L; Fuchs J; Beier S; Houben A
[Ad] Endereço:Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Seeland, Germany.
[Ti] Título:Correlating the Genetic and Physical Map of Barley Chromosome 3H Revealed Limitations of the FISH-Based Mapping of Nearby Single-Copy Probes Caused by the Dynamic Structure of Metaphase Chromosomes.
[So] Source:Cytogenet Genome Res;152(2):90-96, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluorescence in situ hybridization (FISH) on mitotic metaphase chromosomes was performed with 16 genomic single-copy probes derived from fingerprinted BAC contigs. Long genetic distances at subterminal regions translated into short physical distances, confirming that recombination events occur more often at distal regions of chromosome 3H. Nonoverlapping FISH signals were frequently obtained for probes with a physical distance of at least 30-60 kb. Only 8% of the analyzed chromosomes showed a symmetric order of FISH signals on both sister chromatids. Due to the dynamic packing of metaphase chromatin, the order of 2 adjacent single-copy signals along the chromosome arms outside the (peri)centromeric region can only reliably be determined if the cytological distance is approximately 3%, corresponding to 21.6 Mb.
[Mh] Termos MeSH primário: Mapeamento Cromossômico/métodos
Cromossomos de Plantas/genética
Dosagem de Genes
Hordeum/genética
Hibridização in Situ Fluorescente/métodos
Metáfase/genética
Mapeamento Físico do Cromossomo/métodos
[Mh] Termos MeSH secundário: Pareamento de Bases/genética
Cromátides/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170719
[St] Status:MEDLINE
[do] DOI:10.1159/000478631


  5 / 3286 MEDLINE  
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[PMID]:28686858
[Au] Autor:Seixas AI; Loureiro JR; Costa C; Ordóñez-Ugalde A; Marcelino H; Oliveira CL; Loureiro JL; Dhingra A; Brandão E; Cruz VT; Timóteo A; Quintáns B; Rouleau GA; Rizzu P; Carracedo Á; Bessa J; Heutink P; Sequeiros J; Sobrido MJ; Coutinho P; Silveira I
[Ad] Endereço:UnIGENe, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.
[Ti] Título:A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
[So] Source:Am J Hum Genet;101(1):87-103, 2017 Jul 06.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis. We used genome-wide linkage analysis, NGS, and repeat analysis to identify an (ATTTC) insertion in a polymorphic ATTTT repeat in DAB1 in chromosomal region 1p32.2 as the cause of autosomal-dominant SCA; this region has been previously linked to SCA37. The non-pathogenic and pathogenic alleles have the configurations [(ATTTT) ] and [(ATTTT) (ATTTC) (ATTTT) ], respectively. (ATTTC) insertions are present on a distinct haplotype and show an inverse correlation between size and age of onset. In the DAB1-oriented strand, (ATTTC) is located in 5' UTR introns of cerebellar-specific transcripts arising mostly during human fetal brain development from the usage of alternative promoters, but it is maintained in the adult cerebellum. Overexpression of the transfected (ATTTC) insertion, but not (ATTTT) , leads to abnormal nuclear RNA accumulation. Zebrafish embryos injected with RNA of the (AUUUC) insertion, but not (AUUUU) , showed lethal developmental malformations. Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration; on the basis of the genetic and phenotypic evidence, we propose this mutation as the molecular basis for SCA37.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transdução de Sinal/genética
DNA Intergênico/genética
Predisposição Genética para Doença
Repetições de Microssatélites/genética
Proteínas do Tecido Nervoso/genética
Mapeamento Físico do Cromossomo
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Proteínas Adaptadoras de Transdução de Sinal/metabolismo
Adolescente
Adulto
Idade de Início
Alelos
Sequência de Bases
Cerebelo/metabolismo
Segregação de Cromossomos/genética
Cromossomos Humanos Par 1/genética
Análise Mutacional de DNA
Desenvolvimento Embrionário/genética
Feminino
Células HEK293
Haplótipos/genética
Seres Humanos
Íntrons/genética
Masculino
Meia-Idade
Mutagênese Insercional/genética
Proteínas do Tecido Nervoso/metabolismo
Linhagem
RNA/genética
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (DAB1 protein, human); 0 (DNA, Intergenic); 0 (Nerve Tissue Proteins); 0 (RNA, Messenger); 63231-63-0 (RNA)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE


  6 / 3286 MEDLINE  
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[PMID]:28686857
[Au] Autor:Shooshtari P; Huang H; Cotsapas C
[Ad] Endereço:Department of Neurology, Yale School of Medicine, New Haven, CT 06511, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
[Ti] Título:Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.
[So] Source:Am J Hum Genet;101(1):75-86, 2017 Jul 06.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Genome-wide association studies in autoimmune and inflammatory diseases (AID) have uncovered hundreds of loci mediating risk. These associations are preferentially located in non-coding DNA regions and in particular in tissue-specific DNase I hypersensitivity sites (DHSs). While these analyses clearly demonstrate the overall enrichment of disease risk alleles on gene regulatory regions, they are not designed to identify individual regulatory regions mediating risk or the genes under their control, and thus uncover the specific molecular events driving disease risk. To do so we have departed from standard practice by identifying regulatory regions which replicate across samples and connect them to the genes they control through robust re-analysis of public data. We find significant evidence of regulatory potential in 78/301 (26%) risk loci across nine autoimmune and inflammatory diseases, and we find that individual genes are targeted by these effects in 53/78 (68%) of these. Thus, we are able to generate testable mechanistic hypotheses of the molecular changes that drive disease risk.
[Mh] Termos MeSH primário: Doenças Autoimunes/genética
Epigênese Genética
Sequências Reguladoras de Ácido Nucleico/genética
[Mh] Termos MeSH secundário: Alelos
Cromossomos Humanos Par 6/genética
Desoxirribonuclease I/metabolismo
Loci Gênicos
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Seres Humanos
Inflamação/genética
Especificidade de Órgãos/genética
Mapeamento Físico do Cromossomo
Reprodutibilidade dos Testes
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.21.1 (Deoxyribonuclease I)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE


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[PMID]:28552196
[Au] Autor:Tachmazidou I; Süveges D; Min JL; Ritchie GRS; Steinberg J; Walter K; Iotchkova V; Schwartzentruber J; Huang J; Memari Y; McCarthy S; Crawford AA; Bombieri C; Cocca M; Farmaki AE; Gaunt TR; Jousilahti P; Kooijman MN; Lehne B; Malerba G; Männistö S; Matchan A; Medina-Gomez C; Metrustry SJ; Nag A; Ntalla I; Paternoster L; Rayner NW; Sala C; Scott WR; Shihab HA; Southam L; St Pourcain B; Traglia M; Trajanoska K; Zaza G; Zhang W; Artigas MS; Bansal N; Benn M; Chen Z; Danecek P; Lin WY; Locke A; Luan J; Manning AK; Mulas A; Sidore C; Tybjaerg-Hansen A; Varbo A; SpiroMeta Consortium; GoT2D Consortium; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium
[Ad] Endereço:The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
[Ti] Título:Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
[So] Source:Am J Hum Genet;100(6):865-884, 2017 Jun 01.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.
[Mh] Termos MeSH primário: Antropometria
Genoma Humano
Estudo de Associação Genômica Ampla
Locos de Características Quantitativas/genética
Análise de Sequência de DNA/métodos
[Mh] Termos MeSH secundário: Estatura/genética
Estudos de Coortes
Metilação de DNA/genética
Bases de Dados Genéticas
Feminino
Variação Genética
Seres Humanos
Lipodistrofia/genética
Masculino
Metanálise como Assunto
Obesidade/genética
Mapeamento Físico do Cromossomo
Caracteres Sexuais
Síndrome
Reino Unido
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170530
[St] Status:MEDLINE


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[PMID]:28512186
[Au] Autor:Ronin YI; Mester DI; Minkov DG; Akhunov E; Korol AB
[Ad] Endereço:Institute of Evolution and Department of Evolutionary and Environmental Biology, University of Haifa, 3498838, Israel.
[Ti] Título:Building Ultra-High-Density Linkage Maps Based on Efficient Filtering of Trustable Markers.
[So] Source:Genetics;206(3):1285-1295, 2017 Jul.
[Is] ISSN:1943-2631
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The study is focused on addressing the problem of building genetic maps in the presence of ∼10 -10 of markers per chromosome. We consider a spectrum of situations with intrachromosomal heterogeneity of recombination rate, different level of genotyping errors, and missing data. In the ideal scenario of the absence of errors and missing data, the majority of markers should appear as groups of cosegregating markers ("twins") representing no challenge for map construction. The central aspect of the proposed approach is to take into account the structure of the marker space, where each twin group (TG) and singleton markers are represented as points of this space. The confounding effect of genotyping errors and missing data leads to reduction of TG size, but upon a low level of these effects surviving TGs can still be used as a source of reliable skeletal markers. Increase in the level of confounding effects results in a considerable decrease in the number or even disappearance of usable TGs and, correspondingly, of skeletal markers. Here, we show that the paucity of informative markers can be compensated by detecting kernels of markers in the marker space using a clustering procedure, and demonstrate the utility of this approach for high-density genetic map construction on simulated and experimentally obtained genotyping datasets.
[Mh] Termos MeSH primário: Algoritmos
Ligação Genética
Mapeamento Físico do Cromossomo/métodos
[Mh] Termos MeSH secundário: Conjuntos de Dados como Assunto/normas
Marcadores Genéticos
Mapeamento Físico do Cromossomo/normas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170518
[St] Status:MEDLINE
[do] DOI:10.1534/genetics.116.197491


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[PMID]:28280154
[Au] Autor:Mitchell LA; Wang A; Stracquadanio G; Kuang Z; Wang X; Yang K; Richardson S; Martin JA; Zhao Y; Walker R; Luo Y; Dai H; Dong K; Tang Z; Yang Y; Cai Y; Heguy A; Ueberheide B; Fenyö D; Dai J; Bader JS; Boeke JD
[Ad] Endereço:Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA.
[Ti] Título:Synthesis, debugging, and effects of synthetic chromosome consolidation: synVI and beyond.
[So] Source:Science;355(6329), 2017 03 10.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We describe design, rapid assembly, and characterization of synthetic yeast Sc2.0 chromosome VI (synVI). A mitochondrial defect in the synVI strain mapped to synonymous coding changes within ( ), encoding an essential proteasome subunit; Sc2.0 coding changes reduced Pre4 protein accumulation by half. Completing Sc2.0 specifies consolidation of 16 synthetic chromosomes into a single strain. We investigated phenotypic, transcriptional, and proteomewide consequences of Sc2.0 chromosome consolidation in poly-synthetic strains. Another "bug" was discovered through proteomic analysis, associated with alteration of the transcription start due to transfer RNA deletion and loxPsym site insertion. Despite extensive genetic alterations across 6% of the genome, no major global changes were detected in the poly-synthetic strain "omics" analyses. This work sets the stage for completion of a designer, synthetic eukaryotic genome.
[Mh] Termos MeSH primário: Cromossomos Artificiais de Levedura/química
Cromossomos Artificiais de Levedura/genética
Saccharomyces cerevisiae/genética
Biologia Sintética/métodos
[Mh] Termos MeSH secundário: Células Artificiais/metabolismo
Mapeamento Físico do Cromossomo
Complexo de Endopeptidases do Proteassoma/genética
Proteômica
Saccharomyces cerevisiae/crescimento & desenvolvimento
Proteínas de Saccharomyces cerevisiae/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Saccharomyces cerevisiae Proteins); EC 3.4.25.1 (PRE4 protein, S cerevisiae); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE


  10 / 3286 MEDLINE  
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[PMID]:28280152
[Au] Autor:Wu Y; Li BZ; Zhao M; Mitchell LA; Xie ZX; Lin QH; Wang X; Xiao WH; Wang Y; Zhou X; Liu H; Li X; Ding MZ; Liu D; Zhang L; Liu BL; Wu XL; Li FF; Dong XT; Jia B; Zhang WZ; Jiang GZ; Liu Y; Bai X; Song TQ; Chen Y; Zhou SJ; Zhu RY; Gao F; Kuang Z; Wang X; Shen M; Yang K; Stracquadanio G; Richardson SM; Lin Y; Wang L; Walker R; Luo Y; Ma PS; Yang H; Cai Y; Dai J; Bader JS; Boeke JD; Yuan YJ
[Ad] Endereço:Key Laboratory of Systems Bioengineering (Ministry of Education), School of Chemical Engineering and Technology, Tianjin University, Tianjin, 300072, PR China.
[Ti] Título:Bug mapping and fitness testing of chemically synthesized chromosome X.
[So] Source:Science;355(6329), 2017 03 10.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Debugging a genome sequence is imperative for successfully building a synthetic genome. As part of the effort to build a designer eukaryotic genome, yeast synthetic chromosome X (synX), designed as 707,459 base pairs, was synthesized chemically. SynX exhibited good fitness under a wide variety of conditions. A highly efficient mapping strategy called pooled PCRTag mapping (PoPM), which can be generalized to any watermarked synthetic chromosome, was developed to identify genetic alterations that affect cell fitness ("bugs"). A series of bugs were corrected that included a large region bearing complex amplifications, a growth defect mapping to a recoded sequence in , and a loxPsym site affecting promoter function of PoPM is a powerful tool for synthetic yeast genome debugging and an efficient strategy for phenotype-genotype mapping.
[Mh] Termos MeSH primário: Cromossomos Artificiais de Levedura/química
Cromossomos Artificiais de Levedura/genética
Genoma Fúngico
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Mapeamento Físico do Cromossomo/métodos
Saccharomyces cerevisiae/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Duplicação Gênica
Aptidão Genética
Biologia Sintética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE



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