378 results match your criteria transient duplication


TRIM37 prevents formation of condensate-organized ectopic spindle poles to ensure mitotic fidelity.

J Cell Biol 2021 Jul 13;220(7). Epub 2021 May 13.

Laboratory of Protein Dynamics and Signaling, National Institutes of Health, National Cancer Institute, Center for Cancer Research, Frederick, MD.

Centrosomes are composed of a centriolar core surrounded by pericentriolar material that nucleates microtubules. The ubiquitin ligase TRIM37 localizes to centrosomes, but its centrosomal roles are not yet defined. We show that TRIM37 does not control centriole duplication, structure, or the ability of centrioles to form cilia but instead prevents assembly of an ectopic centrobin-scaffolded structured condensate that forms by budding off of centrosomes. Read More

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Comments on the evolution of TRPV6.

Ann Anat 2021 May 6;238:151753. Epub 2021 May 6.

Institut für Experimentelle und Klinische Pharmakologie und Toxikologie, Universität des Saarlandes, 66421 Homburg, Saar, Germany. Electronic address:

It is well known that not all biological findings derived from animals can be directly applied to humans. The TRPV6 protein may serve as an example which highlights these inter-species differences as an example of parallel evolutionary pathways. TRPV6 (and TRPV5) belong to a family of ion channels from the transient receptor potential group but are selectively permeable for Ca, in contrast to other members of the family. Read More

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Evolution of placentation in cattle and antelopes.

Authors:
Anthony M Carter

Anim Reprod 2020 May 22;16(1):3-17. Epub 2020 May 22.

Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.

Bovids have enjoyed great evolutionary success as evidenced by the large number of extant species. Several important domestic animals are from this family. They derive from both subfamilies: cattle and their kin belong to Bovinae and sheep and goats to Antilopinae. Read More

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Transient Receptor Potential (TRP) Channels in the Pacific Oyster (): Genome-Wide Identification and Expression Profiling after Heat Stress between and .

Int J Mol Sci 2021 Mar 22;22(6). Epub 2021 Mar 22.

Key Laboratory of Mariculture, Ministry of Education, College of Fisheries, Qingdao 266003, China.

Transmembrane proteins are involved in an array of stress responses, particularly in thermo-sensation and thermo-regulation. In this study, we performed a genome-wide identification and characterization of the Transient Receptor Potential (TRP) genes in the Pacific oyster () and investigated their expression profiles after heat stress to identify critical TRPs potentially associated with thermal regulation. A total of 66 TRP genes were identified in the , which showed significant gene expansion and tandem duplication. Read More

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Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication.

J Pediatr Endocrinol Metab 2021 May 4;34(5):659-666. Epub 2021 Mar 4.

Department of Pediatric Endocrinology, Louisiana State University Health Science Center, New Orleans, LA, USA.

Objectives: We report an uncommon case of severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8 with 2p duplication. After ruling out all the possible etiologies of hypercalcemia, we speculated a potential contribution of 2p duplication involving 225 genes.

Case Presentation: An 11-month old female infant with global developmental delay, failure to thrive (FTT), hypotonia, amblyopia, constipation, and recent onset emesis was admitted to the hospital after an incidental diagnosis of severe hypercalcemia. Read More

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PP2A-activating Drugs Enhance FLT3 Inhibitor Efficacy through AKT Inhibition-Dependent GSK-3β-Mediated c-Myc and Pim-1 Proteasomal Degradation.

Mol Cancer Ther 2021 04 10;20(4):676-690. Epub 2021 Feb 10.

The University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center,

-like tyrosine-like kinase 3 internal tandem duplication (FLT3-ITD) is present in acute myeloid leukemia (AML) in 30% of patients and is associated with short disease-free survival. FLT3 inhibitor efficacy is limited and transient but may be enhanced by multitargeting of FLT3-ITD signaling pathways. FLT3-ITD drives both STAT5-dependent transcription of oncogenic Pim-1 kinase and inactivation of the tumor-suppressor protein phosphatase 2A (PP2A), and FLT3-ITD, Pim-1, and PP2A all regulate the c-Myc oncogene. Read More

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Excision Dominates Pseudogenization During Fractionation After Whole Genome Duplication and in Gene Loss After Speciation in Plants.

Front Genet 2020 18;11:603056. Epub 2020 Dec 18.

Department of Mathematics and Statistics, University of Ottawa, Ottawa, ON, Canada.

We take advantage of synteny blocks, the analytical construct enabled at the evolutionary moment of speciation or polyploidization, to follow the independent loss of duplicate genes in two sister species or the loss through fractionation of syntenic paralogs in a doubled genome. By examining how much sequence remains after a contiguous series of genes is deleted, we find that this residue remains at a constant low level independent of how many genes are lost-there are few if any relics of the missing sequence. Pseudogenes are rare or extremely transient in this context. Read More

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December 2020

Topoisomerase 2B Decrease Results in Diastolic Dysfunction p53 and Akt: A Novel Pathway.

Front Cardiovasc Med 2020 6;7:594123. Epub 2020 Nov 6.

Department of Cardiology, Division of Internal Medicine MD Anderson Cancer Center, Houston, TX, United States.

Diastolic dysfunction is condition of a stiff ventricle and a function of aging. It causes significant cardiovascular mortality and morbidity, and in fact, three million Americans are currently suffering from this condition. To date, all the pharmacological clinical trials have been negative. Read More

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November 2020

New insights into the evolution and functional divergence of the CIPK gene family in Saccharum.

BMC Genomics 2020 Dec 7;21(1):868. Epub 2020 Dec 7.

Key Laboratory of Sugarcane Biology and Genetic Breeding, Ministry of Agriculture, Fujian Agriculture and Forestry University, Fuzhou, 350002, China.

Background: Calcineurin B-like protein (CBL)-interacting protein kinases (CIPKs) are the primary components of calcium sensors, and play crucial roles in plant developmental processes, hormone signaling transduction, and in the response to exogenous stresses.

Results: In this study, 48 CIPK genes (SsCIPKs) were identified from the genome of Saccharum spontaneum. Phylogenetic reconstruction suggested that the SsCIPK gene family may have undergone six gene duplication events from the last common ancestor (LCA) of SsCIPKs. Read More

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December 2020

Long inverted repeats around the chromosome replication terminus in the model strain serovar BGSC 4Q7.

Microb Genom 2020 12 12;6(12). Epub 2020 Nov 12.

Micalis Institute, INRAE, AgroParisTech, Université Paris-Saclay, 78350 Jouy-en-Josas, France.

serovar is the most widely used natural biopesticide against mosquito larvae worldwide. Its lineage has been actively studied and a plasmid-free strain, . serovar BGSC 4Q7 (4Q7), has been produced. Read More

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December 2020

Imprinting disorders in humans: a review.

Authors:
Merlin G Butler

Curr Opin Pediatr 2020 12;32(6):719-729

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.

Purpose Of Review: Mammals have two complete sets of chromosomes, one from each parent with equal autosomal gene expression. Less than one percentage of human genes are imprinted or show expression from only one parent without changing gene structure, usually by DNA methylation, but reversible in gametogenesis. Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report. Read More

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December 2020

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report.

Clin Pediatr Endocrinol 2020 3;29(4):179-182. Epub 2020 Oct 3.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases of 6q24-TNDM show transient diabetes mellitus (DM) during the neonatal period, followed by relapse after puberty. These two courses of DM are both characterized by insulin insufficiency. Read More

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October 2020

Growth disadvantage associated with centrosome amplification drives population-level centriole number homeostasis.

Mol Biol Cell 2020 11 23;31(24):2646-2656. Epub 2020 Sep 23.

Department of Biology, Stanford University, Stanford, CA 94305.

The centriole duplication cycle normally ensures that centriole number is maintained at two centrioles per G1 cell. However, some circumstances can result in an aberrant increase in centriole number-a phenotype that is particularly prevalent in several types of cancer. Following an artificial increase in centriole number without tetraploidization due to transient overexpression of the kinase PLK4, human cells return to a normal centriole number during the proliferation of the population. Read More

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November 2020

Unique duplication of IFNh genes in Nile tilapia (Oreochromis niloticus) reveals lineage-specific evolution of IFNh in perciform fishes.

Fish Shellfish Immunol 2020 Dec 15;107(Pt A):36-42. Epub 2020 Sep 15.

State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan, 430072, China. Electronic address:

Fish appear to harbour a complex type I IFN repertoire containing subgroups a, b, c, d, e, f, and h, and IFNh is only reported in perciform fishes. However, no multiple copies of IFNh gene has been identified in fish to date. In this study, two IFNh genes named On-IFNh1 and On-IFNh2 were cloned from Nile tilapia, Oreochromis niloticus. Read More

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December 2020

Centrioles are amplified in cycling progenitors of olfactory sensory neurons.

PLoS Biol 2020 09 15;18(9):e3000852. Epub 2020 Sep 15.

Department of Biology, Stanford University, Stanford, California, United States of America.

Olfaction in most animals is mediated by neurons bearing cilia that are accessible to the environment. Olfactory sensory neurons (OSNs) in chordates usually have multiple cilia, each with a centriole at its base. OSNs differentiate from stem cells in the olfactory epithelium, and how the epithelium generates cells with many centrioles is not yet understood. Read More

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September 2020

Genome-wide characterization of the C2H2 zinc-finger genes in Cucumis sativus and functional analyses of four CsZFPs in response to stresses.

BMC Plant Biol 2020 Jul 29;20(1):359. Epub 2020 Jul 29.

Hubei Key Laboratory of Waterlogging Disaster and Agricultural Use of Wetland/College of Agriculture, Yangtze University, Jingzhou, 434000, Hubei, China.

Backgrounds: C2H2-type zinc finger protein (ZFPs) form a relatively large family of transcriptional regulators in plants, and play many roles in plant growth, development, and stress response. However, the comprehensive analysis of C2H2 ZFPs in cucumber (CsZFPs) and their regulation function in cucumber are still lacking.

Results: In the current study, the whole genome identification and characterization of CsZFPs, including the gene structure, genome localization, phylogenetic relationship, and gene expression were performed. Read More

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Molecular characterization of the calcium release channel deficiency syndrome.

JCI Insight 2020 08 6;5(15). Epub 2020 Aug 6.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics; Division of Heart Rhythm Services, Department of Cardiovascular Medicine; and Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.

We identified a potentially novel homozygous duplication involving the promoter region and exons 1-4 of the gene encoding type 2 cardiac ryanodine receptor (RYR2) that is responsible for highly penetrant, exertion-related sudden deaths/cardiac arrests in the Amish community without an overt phenotype to suggest RYR2-mediated catecholaminergic polymorphic ventricular tachycardia (CPVT). Homozygous RYR2 duplication (RYR2-DUP) induced pluripotent stem cell cardiomyocytes (iPSC-CMs) were generated from 2 unrelated patients. There was no difference in baseline Ca2+ handling measurements between WT-iPSC-CM and RYR2-DUP-iPSC-CM lines. Read More

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Histone modification dynamics as revealed by multicolor immunofluorescence-based single-cell analysis.

J Cell Sci 2020 07 21;133(14). Epub 2020 Jul 21.

Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, 4259 Nagatsuta, Midori-ku, Yokohama 226-8501, Japan

Post-translational modifications on histones can be stable epigenetic marks or transient signals that can occur in response to internal and external stimuli. Levels of histone modifications fluctuate during the cell cycle and vary among different cell types. Here, we describe a simple system to monitor the levels of multiple histone modifications in single cells by multicolor immunofluorescence using directly labeled modification-specific antibodies. Read More

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Expression of a Barhl1a reporter in subsets of retinal ganglion cells and commissural neurons of the developing zebrafish brain.

Sci Rep 2020 06 1;10(1):8814. Epub 2020 Jun 1.

Centre for Organismal Studies, University of Heidelberg, Heidelberg, Germany.

Promoting the regeneration or survival of retinal ganglion cells (RGCs) is one focus of regenerative medicine. Homeobox Barhl transcription factors might be instrumental in these processes. In mammals, only barhl2 is expressed in the retina and is required for both subtype identity acquisition of amacrine cells and for the survival of RGCs downstream of Atoh7, a transcription factor necessary for RGC genesis. Read More

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Evolutionary analyses reveal independent origins of gene repertoires and structural motifs associated to fast inactivation in calcium-selective TRPV channels.

Sci Rep 2020 05 26;10(1):8684. Epub 2020 May 26.

Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Valdivia, Chile.

Essential for calcium homeostasis, TRPV5 and TRPV6 are calcium-selective channels belonging to the transient receptor potential (TRP) gene family. In this study, we investigated the evolutionary history of these channels to add an evolutionary context to the already available physiological information. Phylogenetic analyses revealed that paralogs found in mammals, sauropsids, amphibians, and chondrichthyes, are the product of independent duplication events in the ancestor of each group. Read More

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Duplication 6q24: More Than Just Diabetes.

J Endocr Soc 2020 May 27;4(5):bvaa027. Epub 2020 Apr 27.

Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.

Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. Read More

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Identification, Characterization and Expression Analysis of TRP Channel Genes in the Vegetable Pest, .

Insects 2020 Mar 18;11(3). Epub 2020 Mar 18.

Ministry of Agricultural and Rural Affairs Key Laboratory of Molecular Biology of Crop Pathogens and Insects, Institute of Insect Sciences, Zhejiang University, Hangzhou 310058, China.

Transient receptor potential (TRP) channels are critical for insects to detect environmental stimuli and regulate homeostasis. Moreover, this superfamily has become potential molecular targets for insecticides or repellents. is one of the most common and widely spread pests of Brassicaceae plants. Read More

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Mutations in calmodulin-binding domains of TRPV4/6 channels confer invasive properties to colon adenocarcinoma cells.

Channels (Austin) 2020 12;14(1):101-109

Laboratoire Physico Chimie Curie, Institut Curie, CNRS UMR168, PSL Research University, Paris, France.

Transient receptor potential (TRP) channels form a family of polymodal cation channels gated by thermal, mechanical, or chemical stimuli, with many of them involved in the control of proliferation, apoptosis, or cell cycle. From an evolutionary point of view, TRP family is characterized by high conservation of duplicated genes originating from whole-genome duplication at the onset of vertebrates. The conservation of such "ohnolog" genes is theoretically linked to an increased probability of generating phenotypes deleterious for the organism upon gene mutation. Read More

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December 2020

Transient enhanced cell division by blocking DNA synthesis in .

Microbiology (Reading) 2020 06;166(6):516-521

Departamento de Bioquímica Biología Molecular y Genética, Universidad de Extremadura, Badajoz 06071, Spain.

Duplication of the bacterial nucleoid is necessary for cell division hence specific arrest of DNA replication inhibits divisions culminating in filamentation, nucleoid dispersion and appearance of a-nucleated cells. It is demonstrated here that during the first 10 min however, enhanced residual divisions: the proportion of constricted cells doubled (to 40%), nucleoids contracted and cells remodelled dimensions: length decreased and width increased. The preliminary data provides further support to the existence of temporal and spatial couplings between the nucleoid/replisome and the sacculus/divisome, and is consistent with the idea that bacillary bacteria modulate width during the division process exclusively. Read More

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Comparative analysis of the P-type ATPase gene family in seven Rosaceae species and an expression analysis in pear (Pyrus bretschneideri Rehd.).

Genomics 2020 05 10;112(3):2550-2563. Epub 2020 Feb 10.

State Key Laboratory of Crop Genetics and Germplasm Enhancement, Centre of Pear Engineering Technology Research, Nanjing Agricultural University, Nanjing 210095, China. Electronic address:

P-type ATPases are integral membrane transporters that play important roles in transmembrane transport in plants. However, a comprehensive analysis of the P-type ATPase gene family has not been conducted in Chinese white pear (Pyrus bretschneideri) or other Rosaceae species. Here, we identified 419 P-type ATPase genes from seven Rosaceae species (Pyrus bretschneideri, Malus domestica, Prunus persica, Fragaria vesca, Prunus mume, Pyrus communis and Pyrus betulifolia). Read More

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Novel insights into expansion and functional diversification of MIR169 family in tomato.

Planta 2020 Jan 24;251(2):55. Epub 2020 Jan 24.

National Institute of Plant Genome Research, Aruna Asaf Ali Marg, PO Box No. 10531, New Delhi, 110 067, India.

Main Conclusion: Expansion of MIR169 members by duplication and new mature forms, acquisition of new promoters, differential precursor-miRNA processivity and engaging novel targets increase the functional diversification of MIR169 in tomato. MIR169 family is an evolutionarily conserved miRNA family in plants. A systematic in-depth analysis of MIR169 family in tomato is lacking. Read More

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January 2020

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.

J Peripher Nerv Syst 2020 03 14;25(1):19-26. Epub 2020 Jan 14.

Department of Neurosciences, University of Padova, Padova, Italy.

Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49. Read More

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Duplication of Intracavernous Internal Carotid Artery.

Acta Neurol Taiwan 2019 Jun;28(2):57-58

Department of Diagnostic Imaging-Interventional Radiology Unit E.O. Galliera Hospital, Mura delle Cappuccine, 14-16128 Genova, ITALY.

ation. No significant past medical history except for pharmacologically controlled mild hypertension. During the neurological examination the patient appeared alert, oriented and showed no deficit of strength, sensitivity and coordination. Read More

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Evolution of a Novel and Adaptive Floral Scent in Wild Tobacco.

Mol Biol Evol 2020 04;37(4):1090-1099

Institute for Evolution and Biodiversity, University of Münster, Münster, Germany.

Many plants emit diverse floral scents that mediate plant-environment interactions and attain reproductive success. However, how plants evolve novel and adaptive biosynthetic pathways for floral volatiles remains unclear. Here, we show that in the wild tobacco, Nicotiana attenuata, a dominant species-specific floral volatile (benzyl acetone, BA) that attracts pollinators and deters florivore is synthesized by phenylalanine ammonia-lyase 4 (NaPAL4), isoflavone reductase 3 (NaIFR3), and chalcone synthase 3 (NaCHAL3). Read More

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Genome-wide identification and characterization of the GDP-L-galactose phosphorylase gene family in bread wheat.

BMC Plant Biol 2019 Nov 26;19(1):515. Epub 2019 Nov 26.

School of BioSciences, The University of Melbourne, Melbourne, Victoria, 3010, Australia.

Background: Ascorbate is a powerful antioxidant in plants and an essential micronutrient for humans. The GDP-L-galactose phosphorylase (GGP) gene encodes the rate-limiting enzyme of the L-galactose pathway-the dominant ascorbate biosynthetic pathway in plants-and is a promising gene candidate for increasing ascorbate in crops. In addition to transcriptional regulation, GGP production is regulated at the translational level through an upstream open reading frame (uORF) in the long 5'-untranslated region (5'UTR). Read More

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November 2019