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Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria

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Genes & Diseases 2017年第2期4卷 108-110页

作者： Volodymyr Pampukha Maryna Nechyporenko Ludmila Livshyts Institute of Molecular Biology and Genetics of the National Academy of Sciences of Ukraine Department of Human Genomics150Zabolotnogo str.03680 KyivUkraine

Phenylketonuria(PKU)is an autosomal recessive metabolic disorder caused by deficiency of phenylalanine hydroxylase(PAH).The major molecular defects causing PKU are missense mutations of PAH *** deletions of exon 5(EX5del955 and EX5del4232ins)were first reported by the Czech study and were later found also in the Polish,Slovak,Slovenian and Italian *** observations demonstrate the existence of a common subset of this mutation predominantly among Central European populations of Slavic *** is why we suggest that EX5del1955 and EX5del4232ins268 mutations might be frequent causes of PKU in Ukrainian ***5del955 and EX5del4232ins268 mutations were analyzed in 106 unrelated PKU patients negative for PAH gene mutations on one or both alleles from our previous *** simultaneous detection of EX5del4232ins268 and EX5del955 mutations was performed by PCR amplification of mutant ***5del955 mutation was not detected in the Ukrainian *** relative alleles frequency of EX5del4232ins268 mutation in the Ukrainian PKU population was determined as 1,66%.Our findings can be the one more evidence of Central European Slavic origin of EX5del4232ins268 mutation,suggested *** finding is important for the improvement of DNA diagnosis necessary for the management of PKU patients from Ukraine.

关键词： Large deletions Mutation analysis Phenylalanine hydroxylase Phenylketonuria

Cotton GhBAK1 Mediates Verticillium Wilt Resistance and Cell Death

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Journal of Integrative Plant Biology 2013年第7期55卷 586-596页

作者： Xiquan Gao Fangjun Li Maoying Li Ali S.Kianinejad Jane K.Dever Terry A.Wheeler Zhaohu Li Ping He Libo Shan department of Plant Pathology and Microbiology and Institute for Plant Genomics and BiotechnologyTexas A&M UniversityCollege Station College of Agriculture Nanjing Agricultural University College of Agronomy and Biotechnology China Agricultural University department of Biochemistry and Biophysics and Institute for Plant genomics and Biotechnology Texas A&M UniversityCollege Station University of Texas at Brownsville Texas A&M AgriLife Research and Extension Center

Virus-induced gene silencing （VIGS） offers a powerful approach for functional analysis of individual genes by knocking down their expression. We have adopted this approach to dissect gene functions in cotton resistant to Verticfllium wilt, one of the most devastating diseases worldwide. We showed here that highly efficient VIGS was obtained in a cotton breeding line （CA4002） with partial resistance to Verticillium wilt, and GhMKK2 and Gh Ve I are required for its resistance to Verticillium wilt. Arabidopsis AtBAK1/SERK3, a central regulator in plant disease resistance, belongs to a subfamily of somatic embryogenesis receptor kinases （SERKs） with five members, AtSERK1 to AtSERK5. Two BAK1 orthologs and one SERK1 ortholog were identified in the cotton genome. Importantly, GhBAK1 is required for CA4002 resistance to Verticillium wilt. Surprisingly, silencing of GhBAK1 is sufficient to trigger cell death accompanied with production of reactive oxygen species in cotton. This result is distinct from Arabidopsis in which AtBAK1 and AtSERK4 play redundant functions in cell death control. Apparently, cotton has only evolved SERK1 and BAK1 whereas AtSERK4/5 are newly evolved genes in Arabidopsis. Our studies indicate the functional importance of BAK1 in Verticillium wilt resistance and suggest the dynamic evolution of SERK family members in different plant species.

关键词： Cell death: Gossvoium hirsutum: Verticillium dahliae: virus-induced qene silence.

Early-age feed restriction affects viability and gene expression of satellite cells isolated from the gastrocnemius muscle of broiler chicks

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Journal of Animal Science and Biotechnology 2013年第1期4卷 49-57页

作者： Yue Li Xiaojing Yang Yingdong Ni Eddy Decuypere Johan Buyse Nadia Everaert Roland Grossmann Ruqian Zhao Key Laboratory of Animal Physiology & Biochemistry Nanjing Agricultural University Laboratory of Livestock Physiology department of Functional genomics & Bioregulation Institute of Animal Genetics Mariensee

Background： Muscle growth depends on the fusion of proliferate satellite cells to existing myofibers. We reported previously that 0-14 day intermittent feeding led to persistent retardation in myofiber hypertrophy. However, how satellite cells respond to such nutritional insult has not been adequately elucidated. Results： One-day-old broiler chicks were allocated to control （Con, ad libitum feeding）, intermittent feeding （IF, feed provided on alternate days） and re-feeding （RF, 2 days ad libitum feeding after 12 days of intermittent feeding） groups. Chickens were killed on Day 15 and satellite cells were isolated. When cultured, satellite cells from the IF group demonstrated significant retardation in proliferation and differentiation potential, while RF partly restored the proliferation rate and differentiation potential of the satellite cells. Significant up-regulation of insulin like growth factor I receptor （IGF-IR）（P〈O.05） and thyroid hormone receptor o （TRo）（P〈O.05）, and down-regulation of growth hormone receptor （GHR）（P〈O.01） and IGF-I （P〈O.01） mRNA expression was observed in freshly isolated IF satellite cells when compared with Con cells. In RF cells, the mRNA expression of IGF-I was higher （P〈O.05） and of TRa was lower （P〈O.01） than in IF cells, suggesting that RF restored the mRNA expression of TRa and IGF-I, but not of GHR and IGF-IR. The Bax/Bcl-2 ratio tended to increase in the IF group, which was reversed in the RF group （P〈O.05）, indicating that RF reduced the pro-apoptotic influence of iF. Moreover, no significant effect of T3 was detected on cell survival in IF cells compared with Con （P〈O.O01） or RF （P〈O.05） cells. Conclusions： These data suggest that early-age feed restriction inhibits the proliferation and differentiation of satellite cells, induces changes in mRNA expression of the GH/IGF-I and thyroid hormone receptors in satellite cells, as well as blunted sensitivity of satellite cells to T3, and that RF partially reverses these effects.

关键词： Feed restriction Satellite cells Proliferation Gene expression Chicken

Molecular characterization of DnaJ 5 homologs in silkworm Bombyx mori and its expression during egg diapause

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Insect Science 2014年第6期21卷 677-686页

作者： Sasibhushan Sirigineedi Esvaran Vijayagowri Geetha N. Murthy Guruprasada Rao Kangayam M. Ponnuvel genomics Division Seribiotech Research Laboratory Carmelaram Post Kodathi Bangalore 560035 Karnataka India

A comparison of the cDNA sequences （1 056 bp） of Bombyx mori DnaJ 5 homolog with B. mori genome revealed that unlike in other Hsps, it has an intron of 234 bp. The DnaJ 5 homolog contains 351 amino acids, of which 70 contain the conserved DnaJ domain at the N-terminal end. This homolog orB. mori has all desirable functional domains similar to other insects, and the 13 different DnaJ homologs identified in B. mori genome were distributed on different chromosomes. The expressed sequence tag database analysis of Hsp40 gene expression revealed higher expression in wing disc followed by diapause-induced eggs. Microarray analysis revealed higher expression of DnaJ 5 homolog at 18th h after oviposition in diapause-induced eggs. Further validation of DnaJ 5 expression through qPCR in diapause-induced and nondiapause eggs at different time intervals revealed higher expression in diapause eggs at 18 and 24 h after oviposition, which coincided with the expression of Hsp70 as the Hsp 40 is its co-chaperone. This study thus provides an outline of the genome organization of lisp40 gene, and its role in egg diapause induction in B. mori.

关键词： Bombyx mori diapause DnaJ exon Hsp40 intron

A gain-of-function mutation in Msl10 triggers cell death and wound-induced hyperaccumulation of jasmonic acid in Arabidopsis

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Journal of Integrative Plant Biology 2016年第6期58卷 600-609页

作者： Yan Zou Satya Chintamanani Ping He Hirotada Fukushige Liping Yu Meiyu Shao Lihuang Zhu David F.Hildebrand Xiaoyan Tang Jian-Min Zhou School of Life Science and Technology Shanghai Tech University Syngenta Biotechnology Inc.Slater department of Biochemistry and Biophysics Institute for Plant Genomics and Biotechnology Texas A&M University department of Agronomy Agricultural Sciences Center-Noth University of Kentucky State Key Laboratory of Plant genomics Institute of Genetics and Developmental Biology Chinese Academy of Sciences School of Life Sciences Capital Normal University

Jasmonates（JAs） are rapidly induced after wounding and act as key regulators for wound induced signaling pathway. However, what perceives the wound signal and how that triggers JA biosynthesis remains poorly understood. To identify components involved in Arabidopsis wound and JA signaling pathway, we screened for mutants with abnormal expression of a luciferase reporter, which is under the control of a wound-responsive promoter of an ethylene response factor（ERF） transcription factor gene, RAP2.6（Related to APetala 2.6）.The rea1（RAP2.6 expresser in shoot apex） mutant constitutively expressed the RAP2.6-LUC reporter gene in young *** with the typical JA phenotypes including shorter petioles,loss of apical dominance, accumulation of anthocyanin pigments and constitutive expression of JA response gene, rea1 plants also displayed cell death and accumulated high levels of JA in response to wounding. The phenotype of rea1 mutant is caused by a gain-of-function mutation in the C-terminus of a mechanosensitive ion channel MscS-like 10（MSL10）. MSL10 is localized in the plasma membrane and is expressed predominantly in root tip, shoot apex and vascular tissues. These results suggest that MSL10 is involved in the wound-triggered early signal transduction pathway and possibly in regulating the positive feedback synthesis of JA.

关键词： Arabidopsis cell death jasmonates mechanosensitive ion channel wound

Soma-germline communication drives sex maintenance in the Drosophila testis

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National Science Review 2024年第8期11卷 98-113页

作者： Rui Zhang Peiyu Shi Shuyang Xu Zhe Ming Zicong Liu Yuanyuan He Junbiao Dai Erika Matunis Jin Xu Qing Ma Shenzhen Key Laboratory of Synthetic genomics Guangdong Provincial Key Laboratory of Synthetic GenomicsKey Laboratory of Quantitative Synthetic Biology Shenzhen Institute of Synthetic Biology Shenzhen Institute of Advanced Technology Chinese Academy of Sciences State Key Laboratory of Biocontrol School of Life Sciences Sun Yat-Sen University department of Cell Biology Johns Hopkins University School of Medicine

In adult gonads,disruption of somatic sexual identity leads to defective gametogenesis and ***,the underlying mechanisms by which somatic signals regulate germline cells to achieve proper gametogenesis remain *** our previous study,we introduced the chinmoSex Transformation(chinmoST)mutant Drosophila testis phenotype as a valuable model for investigating the mechanisms underlying sex *** chinmoSTtestes,depletion of the Janus Kinase-Signal Transducer and Activator of Transcription downstream effector Chinmo from somatic cyst stem cells（CySCs） feminizes somatic cyst cells and arrests germline ***,we use single-cell RNA sequencing to uncover chinmoST-specific cell populations and their transcriptomic changes during sex *** analysis of intercellular communication networks between wild-type and chinmoSTtestes revealed disruptions in several soma-germline signaling pathways in ***,the insulin signaling pathway exhibited significant enhancement in germline stem cells（GSCs）.Chinmo cleavage under targets and tagmentation（CUT&Tag） assay revealed that Chinmo directly regulates two male sex determination factors,doublesex（dsx） and fruitless（fru）,as wellas Ecdysone-inducible gene L2（ImpL2）,a negative regulator of the insulin signaling *** genetic manipulations confirmed that the impaired gametogenesis observed in chinmoSTtestes was partly contributed by dysregulation of the insulin signaling *** summary,our study demonstrates that somatic sex maintenance promotes normal spermatogenesis through Chinmo-mediated conserved sex determination and the insulin signaling *** work offers new insights into the complex mechanisms of somatic stem cell sex maintenance and soma-germline communication at the single-cell ***,our discoveries highlight the potential significance of stem cell sex instability as a novel mechanism contributing to testicular tumorigene

关键词： Drosophila testis somatic stem cell sex conversion single-cell sequencing soma-germline communication insulin signaling

Heat Makes Cellular Hotspots in Plants

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Molecular Plant 2020年第11期13卷 1536-1538页

作者： Jin Hoon Won Pil Joon Seo department of Chemistry Seoul National UniversitySeoul 08826Korea Plant genomics and Breeding Institute Seoul National UniversitySeoul 08826Korea

Global warming has become the most serious issue in the *** global average surface temperature has gradually increased over the last 50 years,and unprecedented abnormal climates have occurred around the *** are being seriously threatened,and many species are endangered due to loss of *** are not immune from global warming,but because of their sessile nature,plants have evolved elaborate sensory mechanisms for ambient *** concerns include how plants sense the temperature changes and what natural variations have evolved for plant adaptation to given habitat climates.

关键词： habitat Plants endangered

Quantitative Evaluation of Aldo-keto Reductase Expression in Hepatocellular Carcinoma (HCC) Cell Lines

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genomics, Proteomics & Bioinformatics 2013年第4期11卷 230-240页

作者： Lei Yang Ju Zhang Shenyan Zhang Weiwei Dong Xiaomin Lou Siqi Liu CAS Key Laboratory of Genome Sciences and Information Beijing Institute of Genomics Chinese Academy of Sciences department of Oncology General Hospital of PLA

The involvement of aldo-keto reductases （AKRs） in tumorigenesis is widely reported, but their roles in the pathological process are not generally recognized due to inconsistent measure- ments of their expression. To overcome this problem, we simultaneously employed real-time PCR to examine gene expression and multiple reaction monitoring （MRM） of mass spectrometry （MS） to examine the protein expression of AKRs in five different hepatic cell lines. These include one rela- tively normal hepatic cell line, L-02, and four hepatocellular carcinoma （HCC） cell lines, HepG2, HUH7, BEL7402 and SMMC7721. The results of real-time PCR showed that expression of genes encoding the AKR1C family members rather than AKR1A and AKR1B was associated with tumor, and most of genes encoding AKRs were highly expressed in HUH7. Similar observations were obtained through MRM. Different from HUH7, the protein abundance of AKR1A and AKR1B was relatively consistent among the other four hepatic cell lines, while protein expression of AKR1C varied significantly compared to L-02. Therefore, we conclude that the abundant distri- bution of AKR 1C proteins is likely to be associated with liver tumorigenesis, and the AKR expres- sion status in HuH7 is completely different from other liver cancer cell lines. This study, for the first time, provided both overall and quantitative information regarding the expression of AKRs at both mRNA and protein levels in hepatic cell lines. Our observations put the previous use of AKRs as a biomarker into question since it is only consistent with our data from HUH7. Furthermore, the data presented herein demonstrated that quantitative evaluation and comparisons within a protein fam- ily at both mRNA and protein levels were feasible using current techniques.

关键词： Aldo-keto reductase HCC Quantitative analysis Real-time PCR Multiple reaction monitoring

Invertebrate Iridovirus Modulation of Apoptosis

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Virologica Sinica 2009年第4期24卷 295-304页

作者： Trevor Williams Nilesh S. Chitnis Shn L. Bilimoria Instituto de Ecología AC Abramson Cancer Center and department of Cancer Biology University of Pennsylvania department of Biological Sciences The Center for Biotechnology and Genomics Texas Tech University

Programmed cell death （apoptosis） is a key host response to virus infection. Viruses that can modulate host apoptotic responses are likely to gain important opportunities for transmission. Here we review recent studies that demonstrate that particles of Invertebrate iridescent virus 6 （IIV-6）（Iridoviridae, genus Iridovirus）, or an IIV-6 virion protein extract, are capable of inducing apoptosis in lepidopteran and coleopteran cells, at concentrations 1000-fold lower than that required to shut-off host macromolecular synthesis. Induction of apoptosis depends on endocytosis of one or more heat-sensitive virion component（s）. Studies with a JNK inhibitor （SP600125） indicated that the JNK signaling pathway is significantly involved in apoptosis in IIV-6 infections of Choristoneurafumiferana cells. The genome of IIV-6 codes for an inhibitor of apoptosis iap gene （193R） that encodes a protein of 208 aa with 15% identity and 28% similarity in its amino acid sequence to IAP-3 from Cydia pomonella ganulovirus （CpGV）. Transcription of IIV-6 iap did not require prior DNA or protein synthesis, indicating that it is an immediate-early class gene. Transient expression and gene knockdown studies have confirmed the functional nature of the IIV-6 lap gene. We present a tentative model for IIV-6 induction and inhibition of apoptosis in insect cells and discuss the potential applications of these findings in insect pest control.

关键词： Apoptosis Invertebrate iridescent virus 6 Induction by endocytosis Inhibition of apoptosis (iap) gene Iridoviridae JNK pathway involvement.