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Ramos-Morales Francisco F Departamento de Genética, Facultad de Biología, Universidad de Sevilla, Avda Reina Mercedes, 6, 41012, Sevilla, Spain, - - 2015
CyaA from Bordetella pertussis is a calmodulin-dependent adenylate cyclase. Fusions to the catalytic domain of CyaA (CyaA') are useful tools to detect translocation of type III secretion system effectors from gram-negative pathogens like Salmonella enterica. These fusions are usually generated using plasmids with strong promoters. Here, we describe a protocol ...
Xue Xiaoli - - 2014
Top-down reduction of the bacterial genome to construct desired chassis cells is important for synthetic biology. However, the current progress in the field of genome reduction is greatly hindered by indispensable life-essential genes that are interspersed throughout the chromosomal loci. Here, we described a new method designated as "MEGA (Multiple ...
Lucas Stuart J - - 2014
The ~17 Gb hexaploid bread wheat genome is a high priority and a major technical challenge for genomic studies. In particular, the D sub-genome is relatively lacking in genetic diversity, making it both difficult to map genetically, and a target for introgression of agriculturally useful traits. Elucidating its sequence and ...
Wang Zhenzhong Z Department of Plant Genetics and Breeding/State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, 100193, - - 2014
A powdery mildew resistance gene MlHLT derived from a Chinese wheat landrace maps within a 3.6 centimorgan (cM) genetic interval spanning a 13.4 megabase (Mb) physical genomic region on chromosome 1DS. Wheat powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt) is a devastating disease that can cause severe yield losses. ...
Hofmeister Wolfgang W Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, - - 2014
Cytogenetically visible chromosomal translocations are highly informative as they can pinpoint strong effect genes even in complex genetic disorders. Here, we report a mother and daughter, both with borderline intelligence and learning problems within the dyslexia spectrum, and two apparently balanced reciprocal translocations: t(1;8)(p22;q24) and t(5;18)(p15;q11). By low coverage mate-pair ...
Daron Josquin - - 2014
BackgroundThe 17 Gb bread wheat genome has massively expanded through the proliferation of transposable elements and two recent rounds of polyploidization. The assembly of a 774 Mb reference sequence of wheat chromosome 3B provided us with the opportunity to explore the impact of transposable elements (TEs) on the complex wheat genome ...
Jónsson Hákon H Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, DK-1350 Copenhagen K, - - 2014
Horses, asses, and zebras belong to a single genus, Equus, which emerged 4.0-4.5 Mya. Although the equine fossil record represents a textbook example of evolution, the succession of events that gave rise to the diversity of species existing today remains unclear. Here we present six genomes from each living species ...
Sharma Rahul R Cell Fate and Nuclear Organization, Institute of Cell Biology, University of Bern, 3012 Bern, Switzerland; Graduate School for Cellular and Biomedical Sciences, University of Bern, 3012 Bern, - - 2014
The adjustment of X-linked gene expression to the X chromosome copy number (dosage compensation [DC]) has been widely studied as a model of chromosome-wide gene regulation. In Caenorhabditis elegans, DC is achieved by twofold down-regulation of gene expression from both Xs in hermaphrodites. We show that in males, the single ...
Carabajal Paladino Leonela Z - - 2014
We work on the development of transgenic sexing strains in the codling moth, Cydia pomonella (Tortricidae), which would enable to produce male-only progeny for the population control of this pest using sterile insect technique (SIT). To facilitate this research, we have developed a number of cytogenetic and molecular tools, including ...
Morrow Jennifer L - - 2014
Developing embryos are provided with maternal RNA transcripts and proteins, but transcription from the zygotic nuclei must be activated to control continuing embryonic development. Transcripts are generated at different stages of early development, and those involved in sex determination and cellularisation are some of the earliest to be activated. The ...
Suto Jun-Ichi JI Agrogenomics Research Center, National Institute of Agrobiological - - 2014
We performed quantitative trait locus (QTL) mapping analysis for litter size (total number of pups born and/or number of pups born alive) in 255 backcross mice derived from C57BL/6J and RR/Sgn inbred mice. We identified one significant QTL on chromosome 7 and four suggestive QTLs on chromosomes 3, 5, 10 ...
Gai Dayu D Royal Melbourne Hospital, Parkville, Victoria, - - 2014
AKT3 (v-akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. Phenotype and genotype ...
Koelsche Christian C Department of Neuropathology, Institute of Pathology, University Medical Center, Heidelberg, Germany; German Cancer Consortium (DKTK), Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, - - 2014
Melanotic tumors of the nervous system show overlapping histological characteristics but differ substantially in their biological behavior. In order to achieve a better delineation of such tumors, we performed an in-depth molecular characterization. 18 melanocytomas, 12 melanomas, 14 melanotic and 14 conventional schwannomas (control group) were investigated for methylome patterns ...
Becker D D Vetsuisse Faculty, Institute of Genetics, University of Bern, 3001, Bern, Switzerland; Vetsuisse Faculty, DermFocus, University of Bern, 3001, Bern, - - 2014
The recent development of a goat SNP genotyping microarray enables genome-wide association studies in this important livestock species. We investigated the genetic basis of the black and brown coat colour in Valais Blacknecked and Coppernecked goats. A genome-wide association analysis using goat SNP50 BeadChip genotypes of 22 cases and 23 ...
Blasco Rafael B RB Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, - - 2014
Generation of genetically engineered mouse models (GEMMs) for chromosomal translocations in the endogenous loci by a knockin strategy is lengthy and costly. The CRISPR/Cas9 system provides an innovative and flexible approach for genome engineering of genomic loci in vitro and in vivo. Here, we report the use of the CRISPR/Cas9 system for ...
Cotton Allison M AM Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada Molecular Epigenetics Group, Life Sciences Institute, Vancouver, BC, V6T 1Z3, - - 2014
X-chromosome inactivation (XCI) achieves dosage compensation between males and females through the silencing of the majority of genes on one of the female X chromosomes. Thus the female X chromosomes provide a unique opportunity to study euchromatin and heterochromatin of allelic regions within the same nuclear environment. We examined the ...
Bachtrog Doris D Department of Integrative Biology, University of California, Berkeley, Berkeley, CA 94720, USA. Electronic address: - - 2014
Y chromosomes are challenged by a lack of recombination and are transmitted to the next generation only via males. Sequencing of the mouse Y reveals how these properties drive opposing evolutionary processes: massive decay of ancestral genes and convergent acquisition and amplification of spermatid-expressed gene families on the X and ...
Vetro Annalisa A Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, - - 2014
Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject. We analyzed, ...
Guacci Vincent V Department of Molecular and Cell Biology, University of California-Berkeley, Berkeley, CA 94720 - - 2014
Cohesin complex mediates cohesion between sister chromatids, which promotes high fidelity chromosome segregation. Eco1p acetylates the cohesin subunit Smc3p during S phase to establish cohesion. The current model posits that this Eco1p mediated acetylation promotes establishment by abrogating the ability of Wpl1p to destabilize cohesin binding to chromosomes. Here, we ...
Hsiung Chris C-S CC The Children's Hospital of - - 2014
Mitosis entails global alterations to chromosome structure and nuclear architecture, concomitant with transient silencing of transcription. How cells transmit transcriptional states through mitosis remains incompletely understood. While many nuclear factors dissociate from mitotic chromosomes, the observation that certain nuclear factors and chromatin features remain associated with individual loci during mitosis ...
Essletzbichler Patrick P Haplogen GmbH, 1030 Vienna, - - 2014
Near-haploid human cell lines are instrumental for genetic screens and genome engineering as gene inactivation is greatly facilitated by the absence of a second gene copy. However, no completely haploid human cell line has been described, hampering the genetic accessibility of a subset of genes. The near-haploid human cell line ...
Nath Somsubhra S Cancer Biology and Inflammatory Disorder Division, CSIR-Indian Institute of Chemical Biology, 4, Raja S.C. Mullick Road, Kolkata 700 032. - - 2014
E2F family of transcription factors regulate genes involved in various aspects of cell cycle. Beyond the well-documented role in G1/S transition, mitotic regulation by E2F has also been reported. Proper mitotic progression is monitored by spindle assembly checkpoint (SAC). SAC ensures bipolar separation of chromosomes and thus, prevents aneuploidy. There ...
Maekawa Hiromi H Yeast Genetic Resources Laboratory, Graduate School of Engineering, Osaka University, Osaka, - - 2014
Yeast mating type is determined by the genotype at the mating type locus (MAT). In homothallic (self-fertile) Saccharomycotina such as Saccharomyces cerevisiae and Kluveromyces lactis, high-efficiency switching between a and α mating types enables mating. Two silent mating type cassettes, in addition to an active MAT locus, are essential components ...
Molck Miriam Coelho MC Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Sao Paulo, - - 2014
The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been ...
Soh Y Q Shirleen YQ Whitehead Institute, 9 Cambridge Center, Cambridge, MA 02142, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02142, - - 2014
We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of the MSY derives ...
Hanson Sara J SJ UCD Conway Institute, School of Medicine and Medical Science, University College Dublin, Dublin 4, - - 2014
Saccharomyces cerevisiae has a complex system for switching the mating type of haploid cells, requiring the genome to have three mating-type (MAT)-like loci and a mechanism for silencing two of them. How this system originated is unknown, because the three-locus system is present throughout the family Saccharomycetaceae, whereas species in ...
Cuykendall Tawny N TN Cornell - - 2014
Hybrid sons between Drosophila melanogaster females and Drosophila simulans males die as 3(rd) instar larvae. Two genes, D. melanogaster Hybrid male rescue (Hmr) on the X chromosome, and D. simulans Lethal hybrid rescue (Lhr) on chromosome II, interact to cause this lethality. Loss-of-function mutations in either gene suppress lethality, but ...
Grand Ralph S RS Liggins institute, University of Auckland, Grafton Auckland 1032, NZ Institute of Natural and Mathematical Sciences, Massey University, Albany, Auckland 0745, - - 2014
Successful progression through the cell cycle requires spatial and temporal regulation of gene transcript levels and the number, positions and condensation levels of chromosomes. Here we present a high resolution survey of genome interactions in Schizosaccharomyces pombe using synchronized cells to investigate cell cycle dependent changes in genome organization and ...
Nowacka-Woszuk Joanna J Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, - - 2014
The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented ...
Antonacci Francesca F Dipartimento di Biologia, Università degli Studi di Bari Aldo Moro, Bari, - - 2014
Recurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. To gain insight into the instability of this region, we sequenced it in affected individuals, normal individuals and nonhuman primates. We discovered five structural configurations of the human chromosome 15q13.3 region ranging in size from 2 to ...
Backlund Mikael P MP Department of Chemistry, Stanford University, Stanford, CA - - 2014
Single-particle tracking has been applied to study chromatin motion in live cells, revealing a wealth of dynamical behavior of the genomic material once believed to be relatively static throughout most of the cell cycle. Here we used the dual-color three-dimensional (3D) double-helix point spread function microscope to study the correlations ...
Napier C C Institute of Genetic Medicine (C.N., A.L.M., E.G., I.W., S.H.S.P.), Newcastle University, Newcastle upon Tyne NE1 4EP, United Kingdom; and Endocrine Department (C.N., A.L.M., S.H.S.P.), Newcastle upon Tyne Hospitals, Newcastle upon Tyne NE7 7DN, United - - 2014
Autoimmune endocrinopathies demonstrate a profound gender bias, but the reasons for this remain obscure. The 1000 genes on the X chromosome are likely to be implicated in this inherent susceptibility; various theories, including skewed X chromosome inactivation and fetal microchimerism, have been proposed. GPR174 is an Xq21 putative purinergic receptor ...
Touchon Marie M Microbial Evolutionary Genomics, Institut Pasteur, 75724 Paris, France; CNRS, UMR3525, 75724 Paris, - - 2014
Prokaryotes are constantly being infected by large mobile genetic elements (MGEs) such as conjugative elements and temperate phages. The fitness of these elements is tightly linked with the evolutionary success of the host. This leads to selection against disruptive effects their integration might have on the organization and structure of ...
Smith Amena W AW Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, - - 2014
A 10-year-old boy presented with a history of significant delay in language acquisition as well as receptive and expressive language impairment that persisted into elementary school. In school, he exhibited difficulty with reading comprehension, telling and understanding narratives, and making inferences. Other aspects of his neurodevelopment were normal, with no ...
Zheng Minghuan M Biomedical Research Center, Minhang Hospital & Zhongshan Hospital, Fudan University Center for Clinical Bioinformatics, Shanghai, - - 2014
Telocytes (TCs) were identified as a distinct cellular type of the interstitial tissue and defined as cells with extremely long telopodes (Tps). Our previous data demonstrated patterns of mouse TC-specific gene profiles on chromosome 1. The present study focuses on the identification of characters and patterns of TC-specific or TC-dominated ...
Ehrlich Lori A LA a Division of Oncology; Department of Pediatrics; Children's Hospital of Philadelphia ; Philadelphia , PA - - 2014
ATM is the master regulator of the cellular response to DNA double strand breaks (DSBs). Deficiency of ATM predisposes humans and mice to αβ T lymphoid cancers with clonal translocations between the T cell receptor (TCR) α/δ locus and a 450 kb region of synteny on human chromosome 14 and mouse ...
Arora K K National Research Centre on Plant Biotechnology, Lal Bahadur Shastri Centre, Pusa Campus, New Delhi, 110 012, - - 2014
This is a novel report in which chromosomal position of the rice blast resistance gene Pi54 was not found to affect significantly the resistance phenotype or morphological traits. Blast disease caused by Magnaporthe oryzae is a serious constraint in rice production at global level. Pi54 gene imparts resistance against M. ...
Ella Ezra E The Goldyne Savad Institute of Gene Therapy, Hadassah-Hebrew University Medical Center, Jerusalem, - - 2014
Resection of hepatocellular carcinoma (HCC) tumors by partial hepatectomy (PHx) is associated with promoting hepatocarcinogenesis. We have previously reported that PHx promotes hepatocarcinogenesis in the Mdr2-knockout (Mdr2-KO) mouse, a model for inflammation-mediated HCC. Now, to explore the molecular mechanisms underlying the tumor-promoting effect of PHx, we compared genomic and transcriptomic ...
Peltekova Iskra T IT Department of Developmental Pediatrics, Montréal Children's Hospital, Montreal, - - 2014
Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female ...
Prontera Paolo P Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera-Universitaria di Perugia, Perugia, - - 2014
The most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼114 Kb in the 14q11.2 chromosomal region, ...
Malli Theodora T Laboratory for Molecular Biology and Tumor Cytogenetics, Department of Internal Medicine I, Hospital Barmherzige Schwestern Linz, Upper Austria, - - 2014
Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline intellectual disability, bearing a de novo balanced t(5;6)(q11;q25.3). By combining FISH and long distance inverse PCR, we identified two genes, ADAMTS6 and ARID1B, which were disrupted at the translocation breakpoints. Due to the ...
Mell Blair B Department of Physiology and Pharmacology, Center for Hypertension and Personalized Medicine, Program in Physiological Genomics, University of Toledo College of Medicine and Life Sciences, Toledo, OH, - - 2014
Genetic dissection of blood pressure (BP) quantitative trait loci (QTLs) in rats has facilitated the fine-mapping of regions linked to the inheritance of hypertension. The goal of the current study was to further fine-map one such genomic region on rat chromosome 1 (BPQTL1b1), the homologous region of which on human ...
Eshleman Heather D - - 2014
Sister-chromatid bi-orientation on the mitotic spindle is essential for proper chromosome segregation. Defects in bi-orientation are sensed and corrected to prevent chromosome mis-segregation and aneuploidy. This response depends on the adaptor protein Sgo1, which associates with pericentromeric chromatin in mitosis. The mechanisms underlying Sgo1 function and regulation are unclear. Here, ...
Liu Wing-Yee WY Department of Plant Science, Plant Genomics and Breeding Institute and Research Institute for Agriculture and Life Sciences, Seoul National University, 1 Gwanak-ro Gwank-gu, 151-921, Seoul, Republic of - - 2014
Bulked segregant analysis (BSA) using Affymetrix GeneChips revealed candidate genes underlying the major QTL for Phytophthora capsici resistance in Capsicum . Using the candidate genes, reliable markers for Phytophthora resistance were developed and validated. Phytophthora capsici L. is one of the most destructive pathogens of pepper (Capsicum spp.). Resistance of ...
Carbone Lucia L 1] Oregon Health &Science University, Department of Behavioral Neuroscience, 3181 SW Sam Jackson Park Road Portland, Oregon 97239, USA. [2] Oregon National Primate Research Center, Division of Neuroscience, 505 NW 185th Avenue, Beaverton, Oregon 97006, USA. [3] Oregon Health &Science University, Department of Molecular &Medical Genetics, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, USA. [4] Oregon Health &Science University, Bioinformatics and Computational Biology Division, Department of Medical Informatics &Clinical Epidemiology, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, - - 2014
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys and great apes. Here we present the assembly and analysis of a northern white-cheeked gibbon (Nomascus leucogenys) genome. We describe the propensity for ...
Chapman Andrew G - - 2014
BackgroundX-chromosome inactivation silences one X chromosome in females to achieve dosage compensation with the single X chromosome in males. While most genes are silenced on the inactive X chromosome, the gene for the long non-coding RNA XIST is silenced on the active X chromosome and expressed from the inactive X ...
Aubry Marie-Christine MC Departments of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, - - 2014
The TP63 gene encodes a member of the p53 family of transcription factors. Although TP53 is a well-known tumor suppressor gene, the role of p63 in tumorigenesis is controversial. Our group recently identified novel chromosomal rearrangements involving TP63 in approximately 6% of peripheral T-cell lymphomas, which correlated with a p63+/p40- ...
Ozer Ozge O Ba┼čkent University Faculty of Medicine, Department of Hematology, Ankara, Turkey. E-ma-il: - - 2014
We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14). In the present case, ...
Khazaei Hamid H Department of Agricultural Sciences, University of Helsinki, P O Box 27 (Latokartanonkaari 5), 00014, Helsinki, Finland, - - 2014
We have identified QTLs for stomatal characteristics on chromosome II of faba bean by applying SNPs derived from M. truncatula , and have identified candidate genes within these QTLs using synteny between the two species. Faba bean (Vicia faba L.) is a valuable food and feed crop worldwide, but drought ...
Picq Sandrine - - 2014
BackgroundIn Vitis vinifera L., domestication induced a dramatic change in flower morphology: the wild sylvestris subspecies is dioecious while hermaphroditism is largely predominant in the domesticated subsp. V. v. vinifera. The characterisation of polymorphisms in genes underlying the sex-determining chromosomal region may help clarify the history of domestication in grapevine ...
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