1,572 results match your criteria duplication frequently

Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.

Front Genet 2021 16;12:669405. Epub 2021 Apr 16.

Laboratory Affiliated to Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy.

The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. Read More

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Deletions in FLT-3 juxtamembrane domain define a new class of pathogenic mutations: case report and systematic analysis.

Blood Adv 2021 May;5(9):2285-2293

Department of Oncology.

The FMS-like tyrosine kinase 3 (FLT-3) is the most frequently mutated gene in acute myeloid leukemia (AML), a high-risk feature, and now the target of tyrosine kinase inhibitors (TKIs), which are approved and in development. The most common mutation is the internal tandem duplication (ITD). We present a novel mutation, FLT-3/Q575Δ, identified in a patient with AML through next-generation sequencing (NGS). Read More

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Evolution after whole genome duplication: teleost microRNAs.

Mol Biol Evol 2021 Apr 19. Epub 2021 Apr 19.

Institute of Neuroscience, University of Oregon, Eugene OR 97403, USA.

microRNAs (miRNAs) are important gene expression regulators implicated in many biological processes, but we lack a global understanding of how miRNA genes evolve and contribute to developmental canalization and phenotypic diversification. Whole genome duplication events likely provide a substrate for species divergence and phenotypic change by increasing gene numbers and relaxing evolutionary pressures. To understand the consequences of genome duplication on miRNA evolution, we studied miRNA genes following the Teleost Genome Duplication (TGD). Read More

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Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China.

Int J Legal Med 2021 Apr 12. Epub 2021 Apr 12.

Laboratory of Forensic DNA, the Judicial Authentication Center, Southwest Medical University, Luzhou, 646000, Sichuan, China.

Y-chromosome short tandem repeat (Y-STR) markers have been widely used in forensic applications and usually show monoallelic or diallelic genotypic patterns at certain double-copied loci. In this study, we have found 13 samples among 703 males with multi-alleles at the DYS385ab locus, including one with five mutant alleles, nine with four, and three with three. The frequency of abnormal DYS385ab genotypes was 1. Read More

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Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.

Proc Natl Acad Sci U S A 2021 Apr;118(15)

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305;

Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Read More

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Data-Driven Math Model of FLT3-ITD Acute Myeloid Leukemia Reveals Potential Therapeutic Targets.

J Pers Med 2021 Mar 11;11(3). Epub 2021 Mar 11.

Department of Physics, Pennsylvania State University, University Park, PA 16802, USA.

-mutant acute myeloid leukemia (AML) is an aggressive form of leukemia with poor prognosis. Treatment with inhibitors frequently produces a clinical response, but the disease nevertheless often recurs. Recent studies have revealed system-wide gene expression changes in -mutant AML cell lines in response to drug treatment. Read More

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A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child.

Cureus 2021 Feb 24;13(2):e13526. Epub 2021 Feb 24.

Pediatric Medicine, Al Jalila Children's Hospital, Dubai, ARE.

Cystic fibrosis (CF) is a progressive genetic disorder, inherited by the autosomal recessive mode of inheritance and more frequently seen in the Caucasian population with a carrier rate of 1:29 in Caucasian-Americans. Over 1800 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations have been identified so far and the delta F 508 del mutation is the most common mutation. Gene sequencing and deletion/duplication analysis can detect mutations in 99% of people with a clinical diagnosis of CF. Read More

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February 2021

Chromosome number is key to longevity of polyploid lineages.

New Phytol 2021 Mar 26. Epub 2021 Mar 26.

Plant Genome Mapping Laboratory, University of Georgia, Athens, GA, 30602, USA.

Polyploidy is ubiquitous and often recursive in plant lineages, most frequently resulting in extinction but occasionally associated with great evolutionary success. However, instead of chromosome numbers exponentially increasing due to recurrent polyploidy, most angiosperm species have fewer than 14 chromosome pairs. Following genome duplication, diploidisation can render one copy of essential genes nonfunctional without fitness cost. Read More

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Myelomonocytic differentiation of leukemic blasts accompanied by differentiation syndrome in a case of -ITD-positive AML treated with gilteritinib.

Hematology 2021 Dec;26(1):256-260

Department of Hematology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

is one of the most frequently mutated genes in acute myelogenous leukemia (AML) and the mutation is associated with poor prognosis of patients. Two distinct types of activating mutations have been identified in AML samples. One is internal tandem duplications in the juxtamembrane domain (-ITD) and the other is point mutations in the tyrosine kinase domain (-TKD). Read More

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December 2021

Ubiquitylation at Stressed Replication Forks: Mechanisms and Functions.

Trends Cell Biol 2021 Feb 18. Epub 2021 Feb 18.

Protein Signaling Program, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, DK-2200 Copenhagen, Denmark; Center for Chromosome Stability, Department of Cellular and Molecular Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark. Electronic address:

Accurate duplication of chromosomal DNA is vital for faithful transmission of the genome during cell division. However, DNA replication integrity is frequently challenged by genotoxic insults that compromise the progression and stability of replication forks, posing a threat to genome stability. It is becoming clear that the organization of the replisome displays remarkable flexibility in responding to and overcoming a wide spectrum of fork-stalling insults, and that these transactions are dynamically orchestrated and regulated by protein post-translational modifications (PTMs) including ubiquitylation. Read More

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February 2021

Pollinator assemblage and pollen load differences on sympatric diploid and tetraploid cytotypes of the desert-dominant Larrea tridentata.

Am J Bot 2021 02 12;108(2):297-308. Epub 2021 Feb 12.

School of Biological Sciences, University of Nebraska-Lincoln, Lincoln, NE, 68588, USA.

Premise: Whole-genome duplication (polyploidy) is an important force shaping flowering-plant evolution. Ploidy-specific plant-pollinator interactions represent important community-level biotic interactions that can lead to nonrandom mating and the persistence of mixed-ploidy populations.

Methods: At a naturally occurring diploid-tetraploid contact zone of the autopolyploid desert shrub Larrea tridentata, we combined flower phenology analyses, collections of bees on plants of known cytotype, and flow cytometry analyses of bee-collected pollen loads to investigate whether (1) diploid and tetraploid plants have unique bee pollinator assemblages, (2) bee taxa exhibit ploidy-specific visitation and pollen collection biases, and (3) specialist and generalist bee taxa have ploidy-specific visitation and pollen collection biases. Read More

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February 2021

Assessment of distal ureteral and ureterovesical junction visualization on contrast-enhanced voiding urosonography.

Pediatr Radiol 2021 Feb 12. Epub 2021 Feb 12.

Department of Medical Imaging, Ann & Robert Lurie Children's Hospital, 225 E. Chicago Ave., Chicago, IL, 60611, USA.

Background: Contrast-enhanced voiding urosonography (CEVUS) uses intravesically administered microbubble contrast to detect vesicoureteral reflux (VUR) and urethral anomalies with ultrasound. Multiple studies have suggested CEVUS can replace voiding cystourethrogram (VCUG) as a radiation-free alternative. Analysis of the ureterovesical junction and ureters on VCUG documenting the ureterovesical junction position, ureteral duplication, periureteral diverticula and ureteroceles is important as anatomical variations may affect management and surgical approach. Read More

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February 2021

Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.

Med (N Y) 2021 Jan 9;2(1):49-73. Epub 2020 Jul 9.

Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.

Background: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively. Read More

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January 2021

Quantification and evolution of mitochondrial genome rearrangement in Amphibians.

BMC Ecol Evol 2021 02 9;21(1):19. Epub 2021 Feb 9.

College of Life Science, Anhui Normal University, Wuhu, Anhui, 241000, People's Republic of China.

Background: Rearrangement is an important topic in the research of amphibian mitochondrial genomes ("mitogenomes" hereafter), whose causes and mechanisms remain enigmatic. Globally examining mitogenome rearrangements and uncovering their characteristics can contribute to a better understanding of mitogenome evolution.

Results: Here we systematically investigated mitogenome arrangements of 232 amphibians including four newly sequenced Dicroglossidae mitogenomes. Read More

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February 2021

Molecular Phylogenetics and Micromorphology of Australasian Stipeae (Poaceae, Subfamily Pooideae), and the Interrelation of Whole-Genome Duplication and Evolutionary Radiations in This Grass Tribe.

Front Plant Sci 2020 22;11:630788. Epub 2021 Jan 22.

Department of Systematic Botany, Institute of Biology, Geobotany and Botanical Garden, Martin Luther University Halle-Wittenberg, Halle (Salle), Germany.

The mainly Australian grass genus (tribe Stipeae) comprising approximately 64 species represents a remarkable example of an evolutionary radiation. To investigate aspects of diversification, macro- and micromorphological variation in this genus, we conducted molecular phylogenetic and scanning electron microscopy (SEM) analyses including representatives from most of 's currently accepted subgenera. Because of its taxonomic significance in Stipeae, we studied the lemma epidermal pattern (LEP) in 34 representatives of Plastid DNA variation within was low and only few lineages were resolved. Read More

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January 2021

A pair of threonines mark ent-kaurene synthases for phytohormone biosynthesis.

Phytochemistry 2021 Apr 29;184:112672. Epub 2021 Jan 29.

Roy J. Carver Department of Biochemistry, Biophysics & Molecular Biology, Iowa State University, Ames, IA, 50011, United States. Electronic address:

All land plants (embryophytes) must contain an ent-kaurene synthase (KS), as the ability to produce this olefin from ent-copalyl diphosphate (ent-CPP) is required for phytohormone biosynthesis. These KSs have frequently given rise to other class I diterpene synthases that catalyze distinct reactions for more specialized plant metabolism. Indeed, the prevalence of such gene duplication and neofunctionalization has obscured phylogenetic assignment of function. Read More

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Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

J Neurol Sci 2021 Mar 19;422:117321. Epub 2021 Jan 19.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for MDS by sending questionnaires to 575 hospitals where board-certified pediatric neurologists were working and 195 residential hospitals for persons with severe motor and intellectual disabilities in Japan. This survey found 65 cases of MDS, and clinical data of 24 cases in which the diagnosis was genetically confirmed were analyzed. Read More

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[Analysis of outcomes of randomized controlled trial on compound Chinese herbal medicine formulas in treatment of vascular cognitive impairment caused by cerebral small vessel].

Zhongguo Zhong Yao Za Zhi 2020 Dec;45(23):5804-5818

Dongfang Hospital, Beijing University of Chinese Medicine Beijing 100078, China.

The purpose of the study is to analyze the outcomes of randomized controlled trial(RCT) of Chinese herbal medicine formula(CHMF) in the treatment of vascular cognitive impairment caused by cerebral small vessel disease(CSVD-VCI), and provide suggestions for future studies in this field. Three English databases, four Chinese databases, and two online registration websites of clinical trials were searched with use of the search strategy established in advance. Relevant RCTs published in recent ten years were screened, and necessary information was extracted to assess the risk of bias and analyze the outcomes of these RCTs. Read More

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December 2020

Genetic and Epigenetic Changes Are Rapid Responses of the Genome to the Newly Synthesized Autotetraploid .

Front Genet 2020 7;11:576260. Epub 2021 Jan 7.

State Key Laboratory of Developmental Biology of Freshwater Fish, Engineering Research Center of Polyploid Fish Reproduction and Breeding of the State Education Ministry, College of Life Sciences, Hunan Normal University, Changsha, China.

Whole genome duplication events have occurred frequently during the course of vertebrate evolution. To better understand the influence of polyploidization on the fish genome, we herein used the autotetraploid (4n = 200, RRRR) (4nRR) resulting from the whole genome duplication of (2n = 100, RR) (RCC) to explore the genomic and epigenetic alterations after polyploidization. We subsequently performed analyses of full-length transcriptome dataset, amplified fragment length polymorphism (AFLP) and methylation sensitive amplification polymorphism (MSAP) on 4nRR and RCC. Read More

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January 2021

A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing.

BMC Genomics 2021 Jan 23;22(1):78. Epub 2021 Jan 23.

Lanzhou Institute of Husbandry and Pharmaceutical Sciences of Chinese Academy of Agricultural Sciences, Sheep Breeding Engineering Technology Research Center, Lanzhou, 730050, China.

Background: Copy number variation (CNV) is an important source of genetic variation that has a significant influence on phenotypic diversity, economically important traits and the evolution of livestock species. In this study, the genome-wide CNV distribution characteristics of 32 fine-wool sheep from three breeds were analyzed using resequencing.

Results: A total of 1,747,604 CNVs were detected in this study, and 7228 CNV regions (CNVR) were obtained after merging overlapping CNVs; these regions accounted for 2. Read More

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January 2021

A rare large duplication of MLH1 identified in Lynch syndrome.

Hered Cancer Clin Pract 2021 Jan 19;19(1):10. Epub 2021 Jan 19.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany.

Background: The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and/or for microsatellite instability (MSI) followed by sequencing or other techniques, such as denaturing high performance liquid chromatography (DHPLC), to identify the mutation.

Methods: In an ongoing project focusing on finding Mendelian cancer syndromes we applied whole-exome/whole-genome sequencing (WES/WGS) to 19 CRC families. Read More

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January 2021

Sequence and Structure-Based Analysis of Specificity Determinants in Eukaryotic Protein Kinases.

Cell Rep 2021 01;34(2):108602

European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge CB10 1SD, UK. Electronic address:

Protein kinases lie at the heart of cell-signaling processes and are often mutated in disease. Kinase target recognition at the active site is in part determined by a few amino acids around the phosphoacceptor residue. However, relatively little is known about how most preferences are encoded in the kinase sequence or how these preferences evolved. Read More

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January 2021

Restoration of Five Digit Hand in Type III B & C Thumb Hypoplasia-A Game Changer in Surgical Management.

Indian J Plast Surg 2020 Dec 25;53(3):349-356. Epub 2020 Nov 25.

Department of Plastic, Hand & Microsurgery, Right Hospitals, Kilpauk, Chennai, Tamil Nadu, India.

 Hypoplasia of thumb is the second common congenital difference of the thumb, next only to duplication. It may occur as an isolated hand difference or as a part of radial longitudinal deficiency. In approximately 60% of these children, the radius shows hypoplasia. Read More

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December 2020

PhyloGenes: An online phylogenetics and functional genomics resource for plant gene function inference.

Plant Direct 2020 Dec 30;4(12):e00293. Epub 2020 Dec 30.

Phoenix Bioinformatics Fremont CA USA.

We aim to enable the accurate and efficient transfer of knowledge about gene function gained from and other model organisms to other plant species. This knowledge transfer is frequently challenging in plants due to duplications of individual genes and whole genomes in plant lineages. Such duplications result in complex evolutionary relationships between related genes, which may have similar sequences but highly divergent functions. Read More

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December 2020

Cardiac evaluation of patients with 22q11.2 duplication syndrome.

Am J Med Genet A 2021 03 27;185(3):753-758. Epub 2020 Dec 27.

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Read More

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Megakaryocytic Expansion in Gilteritinib-Treated Acute Myeloid Leukemia Patients Is Associated With AXL Inhibition.

Front Oncol 2020 9;10:585151. Epub 2020 Dec 9.

Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, WI, United States.

Numerous recurrent genetic mutations are known to occur in acute myeloid leukemia (AML). Among these common mutations, Fms-like tyrosine kinase 3 remains as one of the most frequently mutated genes in AML. We observed apparent marrow expansion of megakaryocytes in three out of six patients with Flt3-mutated AML following treatment with a recently FDA-approved Flt3 inhibitor, gilteritinib which possesses activity against internal tandem duplication and tyrosine kinase domain Flt3 mutations and also inhibits tyrosine kinase AXL. Read More

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December 2020

Emerging Human Metapneumovirus Gene Duplication Variants in Patients with Severe Acute Respiratory Infection, China, 2017-2019.

Emerg Infect Dis 2021 Jan;27(1):275-277

We detected human metapneumovirus (HMPV) in 72 (7.1%) of 1,021 patients hospitalized with severe acute respiratory infection in Luohe, China, during 2017-2019. We detected HMPV most frequently in young children and less often in adults. Read More

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January 2021

ANKRD26 recruits PIDD1 to centriolar distal appendages to activate the PIDDosome following centrosome amplification.

EMBO J 2021 Feb 22;40(4):e105106. Epub 2020 Dec 22.

Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Centriole copy number is tightly maintained by the once-per-cycle duplication of these organelles. Centrioles constitute the core of centrosomes, which organize the microtubule cytoskeleton and form the poles of the mitotic spindle. Centrosome amplification is frequently observed in tumors, where it promotes aneuploidy and contributes to invasive phenotypes. Read More

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February 2021

Dealing with DNA lesions: When one cell cycle is not enough.

Curr Opin Cell Biol 2020 Dec 10;70:27-36. Epub 2020 Dec 10.

Department of Molecular Mechanisms of Disease, University of Zurich, Zurich, Switzerland. Electronic address:

Subversion of genome integrity fuels cellular adaptation and is a prerequisite for organismal evolution, yet genomic lesions are also the harmful driving force of cancer and other age-related human diseases. Genome integrity maintenance is inherently linked to genome organization and nuclear architecture, which are substantially remodeled during the cell cycle. Here we discuss recent findings on how actively dividing cells cope with endogenous genomic lesions that occur frequently at repetitive, heterochromatic, and late replicating regions as byproducts of genome duplication. Read More

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December 2020

The fragility of a structurally diverse duplication block triggers recurrent genomic amplification.

Nucleic Acids Res 2021 01;49(1):244-256

Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

The human genome contains hundreds of large, structurally diverse blocks that are insufficiently represented in the reference genome and are thus not amenable to genomic analyses. Structural diversity in the human population suggests that these blocks are unstable in the germline; however, whether or not these blocks are also unstable in the cancer genome remains elusive. Here we report that the 500 kb block called KRTAP_region_1 (KRTAP-1) on 17q12-21 recurrently demarcates the amplicon of the ERBB2 (HER2) oncogene in breast tumors. Read More

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January 2021