Livres : « Encoding genes »

1

Taylor, Brian Vance. Characterization of the genes encoding the serine hydroxymethyltransferases from Saccharomyces cerevisiae. Ottawa : National Library of Canada, 1994.

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2

Jung, Benjamin P. Discovery and characterization of three genes encoding G protein-coupled receptors. Ottawa : National Library of Canada = Bibliothèque nationale du Canada, 1999.

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3

Olive, Mark R. Wheat starch biosynthesis : Organ-specific expression of genes encoding ADP-glucose pyrophosphorylase. [s.l.] : typescript, 1988.

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4

Wang, W. A potato cDNA encoding a homologue of mammalian multidrug resistant P-glycoprotein. [Washington, DC : National Aeronautics and Space Administration, 1996.

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5

Docherty, John Martin. The cloning and characterization of three novel human genes encoding G protein-coupled receptors. Ottawa : National Library of Canada, 1994.

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6

Cao, Chenglong. Immunological screening of a rat brain cDNA library for genes encoding potential novel glutamate receptors. Ottawa : National Library of Canada, 1993.

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7

Whittaker, Catherine Jill. Identification and cloning of Streptococcus gordonii LGR2 genes encoding adhesins for saliva-coated hydroxyapatite (SHA). Manchester : University of Manchester, 1993.

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8

D, Takezawa, et United States. National Aeronautics and Space Administration., dir. Calmodulin gene family in potato : Developmental and touch-induced expression of the mRNA encoding a novel isoform. [Washington, D.C : National Aeronautics and Space Administration, 1997.

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9

M, Clarke David, dir. Nucleotide sequence of the pnt A and pnt B genes encoding the pyridine nucleotide transhydrogenase of Escherichia coli. New York : Springer-Verlag, 1986.

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10

Obinwa, Ngozika Kanayo. Identification and cloning of Streptococcus gordonii LGR2 and Streptococcus crista CR311 genes encoding their coaggregations with other oral bacteria. Manchester : University of Manchester, 1996.

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11

Xue, Yongbiao. Molecular biology of genes encoding subunits of the mitochondrial F0F1-ATP synthase complex in cytoplasmic male sterileand male fertile sugar beet (Beta vulgaris L.). Norwich : University of East Anglia, 1989.

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12

1955-, Moore John C., dir. Proto-properties and grammatical encoding : A correspondence theory of argument selection. Stanford, Calif : CSLI Publications, 2001.

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13

Laudenbach, David Edgar. Characterization of genes encoding iron-regulated polypeptides in the cyanobacterium "Anacystis nidulans" R2. 1988.

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14

Cao, Chenglong. Immunological screening of a rat brain cDNA library for genes encoding potential novel glutamate receptors. 1994.

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15

Slack, Jonathan. Conclusion. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199676507.003.0007.

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There are many concepts of the gene. They range from defined sequences of DNA encoding proteins, to variant genes distinguishing individuals (markers), to unknown genes controlling quantitative traits, to hypothetical entities controlling behaviour as well as other complex characteristics. The science of genes is at its most precise and reliable when dealing with known protein coding genes. But all of the different concepts of the gene have been and continue to be important in numerous areas of human thought.

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16

Calmodulin gene family in potato : Developmental and touch-induced expression of the mRNA encoding a novel isoform. [Washington, D.C : National Aeronautics and Space Administration, 1997.

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17

Nucleotide sequence of the pntA and pntB genes encoding the pyridine nucleotide transhydrogenase of 'Escherichia coli'. Berlin : Springer-Verlag, 1986.

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18

Sunahara, Roger Ken. The molecular cloning and expression of the genes encoding the human dopamine D1 and D5 receptors. 1993.

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19

Maddon, Paul Jay. Isolation and characterization of the gene encoding T4 (CD4) : A receptor mediating cell-cell and cell-HIV interactions. 1988.

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20

Hefferon, Kathleen. Construction and expression of genes encoding potato virus Y and potato virus X in transgenic potato plants. 1995.

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21

Doran, Joy Bethune. Fermentation of cellulose to ethanol by Klebsiella oxytoca containing chromosomally integrated genes encoding the Zymomonas mobilis ethanol pathway. 1994.

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22

Brahm, Amanda J., et Robert A. Hegele. Monogenic Chylomicronemia : Deficiency of Lipoprotein Lipase and Related Factors. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0033.

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Monogenic chylomicronemia is an autosomal recessive condition characterized by severely elevated fasting triglyceride that carries lifelong elevated risk of developing pancreatitis. The majority of cases are caused by mutations in the LPL gene encoding lipoprotein lipase, the enzyme primarily responsible for chylomicron clearance. Mutations in genes encoding associated proteins (APOC2, APOA5, GPIHBP1 and LMF1) may also present with a very similar phenotype. Current management, which includes restriction of dietary fat intake and standard pharmacologic interventions, has met with limited success, but new therapies under development may prove to be more effective.

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23

Burke, Patrick Sean. Isolation and characterization of Zfp-37 and Zpf-51 : Two new zinc finger-encoding genes in the mouse testis. 1994.

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24

Storts, Douglas Ray. Purification and properties of a-Aminoadipate semialdehyde dehydrogenase and saccharopine dehydrogenase (glutamate-forming) : From Saccharomyces cerevisiae and identification of the structural genes encoding a-Aminoadipate semialdehyde dehydrogenase. 1985.

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25

Zhao, Genshi. Biosynthesis of phenylalanine and tyrosine in pseudomonas aeruginosa and zymomonas mobilis : Molecular cloning of the genes encoding cyclohexadienyl dehydratase and cyclohexadienyl dehydrogenase, and characterization of the gene products. 1991.

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26

Odds, Frank C. Pathogenesis of fungal disease. Sous la direction de Christopher C. Kibbler, Richard Barton, Neil A. R. Gow, Susan Howell, Donna M. MacCallum et Rohini J. Manuel. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198755388.003.0008.

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The pathogenesis of fungal disease involves an interplay between fungal virulence factors and host immune responses. Most fungal pathogens are opportunists that preferentially invade hosts with immune defects, but the fact that relative pathogenicity varies between fungal species (and even between different strains within a species) is evidence that fungi have evolved multiple, different molecular virulence factors. Experiments in which genes encoding putative virulence attributes are specifically disrupted and the resulting mutants are tested for virulence in a range of vertebrate and invertebrate hosts have identified or confirmed many gene products as significant for the pathogenesis of various types of fungal disease. These include factors determining fungal shape in vivo, biofilm formation, and a plethora of surface components, including adhesins and hydrolytic enzymes. This chapter provides an overview of fungal virulence attributes.

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27

Syrris, Petros, et Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy : genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.

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Kirchman, David L. Genomes and meta-omics for microbes. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198789406.003.0005.

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The sequencing of entire genomes of microbes grown in pure cultures is now routine. The sequence data from cultivated microbes have provided insights into these microbes and their uncultivated relatives. Sequencing studies have found that bacterial genomes range from 0.18 Mb (intracellular symbiont) to 13 Mb (a soil bacterium), whereas genomes of eukaryotes are much bigger. Genomes from eukaryotes and prokaryotes are organized quite differently. While bacteria and their small genomes often grow faster than eukaryotes, there is no correlation between genome size and growth rates among the bacteria examined so far. Genomic studies have also highlighted the importance of genes exchanged (“horizontal gene transfer”) between organisms, seemingly unrelated, as defined by rRNA gene sequences. Microbial ecologists use metagenomics to sequence all microbes in a community. This approach has revealed unsuspected physiological processes in microbes, such as the occurrence of a light-driven proton pump, rhodopsin, in bacteria (dubbed proteorhodopsin). Genomes from single cells isolated by flow cytometry have also provided insights about the ecophysiology of both bacteria and protists. Oligotrophic bacteria have streamlined genomes, which are usually small but with a high fraction of genomic material devoted to protein-encoding genes, and few transcriptional control mechanisms. The study of all transcripts from a natural community, metatranscriptomics, has been informative about the response of eukaryotes as well as bacteria to changing environmental conditions.

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29

Powell, Craig M. PTEN and Autism With Macrocepaly. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0010.

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Phosphatase and Tensin homolog deleted on chromosome 10 (PTEN) is a gene encoding an intracellular signaling molecule. PTEN was originally discovered as the gene responsible for a subset of familial hamartoma (tumor) syndromes associated with increased risk for certain cancers (Nelen et al., 1997) and as a gene often mutated in human cancers and tumor cell lines (Li et al., 1997; Steck et al., 1997). More recently, mutations in PTEN have been linked genetically to the clinical phenotype of autism or developmental delay with macrocephaly (Boccone et al., 2006; Butler et al., 2005; Buxbaum et al., 2007; Goffin, Hoefsloot, Bosgoed, Swillen, & Fryns, 2001; Herman, Butter, et al., 2007; McBride et al., 2010; Orrico et al., 2009; Stein, Elias, Saenz, Pickler, & Reynolds, 2010; Varga, Pastore, Prior, Herman, & McBride, 2009; Zori, Marsh, Graham, Marliss, & Eng, 1998). This chapter examines the role of PTEN in intracellular signaling, the link between PTEN signaling pathways and other autism-related genes and signaling pathways, the genetic relationship between PTEN and autism, model systems in which effects of Pten deletion on the brain have been studied, and promising preclinical data identifying therapeutic targets for patients with autism/macrocephaly associated with PTEN mutations.

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30

Bailey, Matthew A. An overview of tubular function. Sous la direction de Robert Unwin. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0020.

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This chapter provides an overview of transport processes, describing both the membrane proteins that effect transepithelial solute flux and the systems that allow integrated regulation of electrolyte transport. The emphasis is on the physiological mechanisms but links to human diseases are made in order to illuminate fundamental principles of control. The key transport proteins and encoding genes are listed. First, the major transport pathways and regulatory features for each nephron segment are described. The focus here is on the transepithelial flux of sodium, potassium, and water. In the second part, other important aspects of renal homeostasis, including urine concentration and acid–base balance, are summarized.

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31

Drennan, John D. DNA vaccines encoding the glycoprotein genes of spring viremia of carp virus, snakehead rhabdovirus, or infectious hematopoietic necrosis virus induce protective immunity in rainbow trout (Oncorhynchus mykiss) against an infectious hematopoietic necrosis virus lethal challenge. 1998.

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32

Wordsworth, B. P. Skeletal dysplasias. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0150.

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Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism. Skeletal dysplasias are developmental disorders of the chondro-osseous tissues commonly resulting in short stature, which is often disproportionate. The underlying mutations are often in the structural genes encoding components of the matrix but may also involve growth factors or cell signalling. In contrast, the dysostoses tend to affect single bones or groups of bones, reflecting the transient nature of the many different signalling factors to which they are responsive during development. Abnormalities of bone density (high or low) may be due to primary deficiency of bone matrix synthesis (e.g. osteogenesis imperfecta and hypophosphatasia) but may also reflect an imbalance between bone formation and resorption. This may be caused by abnormalities of bone formation (e.g. hyperostosis/sclerosteosis and osteoporosis pseudoglioma syndrome) or bone resorption (e.g. classic osteopetrosis and fibrous dysplasia).

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33

Tepper, Mark Allen. Regulation of the gene encoding the beta subunit of luteinizing hormone in the rat. 1985.

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34

Roth, Jeffrey Stephen. Isolation and expression of a cDNA clone encoding the catalytic subunit of the rat cAMP-dependent protein kinase. 1987.

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35

Singh, Bhagat, Alban Latremoliere et Michael Costigan. Congenital insensitivity to pain. Sous la direction de Paul Farquhar-Smith, Pierre Beaulieu et Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0078.

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The landmark paper discussed in this chapter is ‘Congenital insensitivity to pain. A clinical, genetic and neurophysiological study of four children from the same family’, published by D. C. Thrush in 1973. The study of patients with congenital conditions that result in pain insensitivity has been invaluable in helping define the molecular mechanisms of sensory processing. These patients share a major defining phenotype (they feel little or no pain from birth), although they often have differing subtle symptoms which belie a host of separate conditions that we have now started to recognize with the advent of molecular genetics (e.g. loss-of-function mutations in the gene encoding Nav1.7, and mutations related to nerve growth factor (NGF)); these include congenital insensitivity to pain with anhydrosis (CIPA; thought to be due to mutations in the gene encoding the NGF receptor NTRK1) and hereditary sensory and autonomic neuropathies (HSANs) such as familial dysautonomia.

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36

Molecular cloning, characterization, and developmental expression of the gene encoding the cyclic nucleotide phosphodiesterase inhibitor of Dictyostelium discoideum. 1992.

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37

Moore, John, et Farrell Ackerman. Proto-Properties and Grammatical Encoding : A Correspondence Theory of Argument Selection. Center for the Study of Language and Inf, 2001.

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38

Moore, John, et Farrell Ackerman. Proto-Properties and Grammatical Encoding : A Correspondence Theory of Argument Selection. Center for the Study of Language and Inf, 1999.

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39

Huber, Judith. Problems with historical data. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190657802.003.0003.

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Chapter 3 discusses the challenges presented by the historical data used in the study and how they are dealt with in the book: (a) the evidence, particularly for Old English, is limited and does not represent the genres and registers normally used in motion-encoding typology studies; (b) establishing the decontextualized meaning of verbs from earlier stages of a language can be problematic, including in view of the highly detailed entries in period dictionaries, which aim at listing all the contextualized meanings of a verb. Exemplary analyses illustrate how this problem is approached in the present study in comparison to previous works.

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40

Ng, Dominic S. Tangier Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0035.

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Tangier disease is characterized by profound high-density lipoprotein (HDL) deficiency in association with accumulation of cholesterol esters in tissues, especially those of the reticuloendothelial system. Clinical signs include hyperplastic, yellow-orange colored tonsils, peripheral neuropathies, and hepatosplenomegaly. The disease is caused by two mutant alleles of the ABCA1 gene encoding ATP-binding cassette subfamily A member 1. Despite severe HDL deficiency, predisposition to accelerated coronary heart disease is highly variable in affected individuals. With the exception of tonsillectomy for severe hyperplastic tonsils and corneal transplantation in rare cases of severe corneal opacification, treatments for specific manifestations are largely ineffective.

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41

Hamilton, Matthew Lloyd. COMT genotypes in pain responses. Sous la direction de Paul Farquhar-Smith, Pierre Beaulieu et Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0080.

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The landmark study discussed in this chapter is ‘COMT val158met genotype affects μ‎-opioid neurotransmitter responses to a pain stressor’, published by Zubieta et al. in 2003. Catechol-O-methyl-transferase (COMT) is a key modulator of dopaminergic and noradrenergic neurotransmission. This study focused on a single nucleotide polymorphism of the COMT gene encoding the substitution of valine (val) by methionine (met) at Codon 158 (val158met), resulting in a three- to fourfold reduction in its activity. Individuals with the val/val genotype have the highest activity of COMT, val/met genotypes have intermediate activity, and met/met genotypes have the lowest activity of COMT. Using a mixture of PET imaging of the binding of μ‎-opioid receptors and correlation with clinical outcomes, this groundbreaking study provided evidence that confirmed their hypothesis and established the COMT val158met SNP as one of the first gene modifications with direct ramifications on human pain.

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42

Frenkel, Joost, et Hans R. Waterham. Mevalonate Kinase Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0039.

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Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK. The substrate, mevalonate, accumulates and is elevated in blood and urine. Shortage of certain downstream products of the pathway, nonsterol isoprenoids, leads to dysregulation of the innate immune system, activation of inflammasomes, and interleukin (IL)-1 mediated inflammation.Symptoms start in early childhood with recurrent attacks of fever, vomiting, diarrhea, headache, sore throat, abdominal pain, arthralgias, painful lymphadenopathy, hepatosplenomegaly, skin rash, and mucosal ulcers. Severely affected patients have additional symptoms, such as intellectual impairment, progressive cerebellar ataxia, and tapetoretinal degeneration. Complications include intestinal obstruction, AA-amyloidosis, hemophagocytosis, and severe infection.Management of MKD is directed at controlling inflammation.

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Desroches, Julie. Peripheral analgesia involves cannabinoid receptors. Sous la direction de Paul Farquhar-Smith, Pierre Beaulieu et Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0034.

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This landmark paper by Agarwal and colleagues was published in 2007, when the exact contribution of the activation of the cannabinoid type 1 receptor (CB1) receptors expressed on the peripheral terminals of nociceptors in pain modulation was still uncertain. At that time, while it was clearly demonstrated that the central nervous system (CNS) was involved in the antinociceptive effects induced by the activation of the CB1 receptor, many strains of mice in which the gene encoding the CB1 receptor was deleted by conditional mutagenesis were used to study the specific role of these receptors in pain. Creating an ingenious model of genetically modified mice with a conditional deletion of the CB1 receptor gene exclusively in the peripheral nociceptors, Agarwal and colleagues were the first to unequivocally demonstrate the major role of this receptor in the control of pain at the peripheral level. In fact, these mutant mice lacking CB1 receptors only in sensory neurons (those expressing the sodium channel Nav1.8) have been designed to highlight that CB1 receptors on nociceptors, and not those within the CNS, constitute an important target for mediating local or systemic (but not intrathecal) cannabinoid analgesia. Overall, they have clarified the anatomical locus of cannabinoid-induced analgesia, highlighted the potential significance of peripheral CB1-mediated cannabinoid analgesia, and revealed important insights into how the peripheral endocannabinoid system works in controlling both inflammatory pain and neuropathic pain.

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Hughey, Matthew W., et Emma González-Lesser, dir. Racialized Media. NYU Press, 2020. http://dx.doi.org/10.18574/nyu/9781479811076.001.0001.

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This book examines the design (imagining and producing), delivery (distribution, gatekeeping, and cultural mediation), and decoding (reception, consumption, and debate) of varied genres and styles of contemporary racialized media. In line with what the late great media sociologist Stuart Hall called the “circuit of culture,” the authors herein collectively analyze, first, the production side of imagining and encoding ideological meanings and narratives, the material structures, the people involved, and global political economy of media; second, the arena of distribution in which marketing strategies, gatekeeping traditions, laws and policies, and professional customs structure where and how media is framed; and third, the practices of consumption whereby audience receive, interpret, and debate racialized media. Despite pronouncements that we have reached a “postracial” or “colorblind” society or that racial—and racist—meanings are only the domains of extremist activism and political rhetoric, we demonstrate how dominant racial meanings are deployed, negotiated, and contested in the behind-the-scenes productive activity with, distributive processes regarding, and consumer reactions to racialized media. The chapters highlight the multidirectional influences between media, the racialized climate of politics and culture, reverberations of media meanings in society, and experiences of media consumption along the lines of race, class, and gender positionalities. To analyze these complex relationships, contributing authors utilize various forms of media, including film, television, books, newspapers, social media, video games, and comics, among others.

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Daudon, Michel, et Paul Jungers. Cystine stones. Sous la direction de Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.

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Cystinuria, an autosomal recessive disease (estimated at 1:7000 births worldwide), results from the defective reabsorption of cystine and dibasic amino acids (also ornithine, arginine, lysine, COAL) by epithelial cells of renal proximal tubules, leading to an abnormally high urinary excretion of these amino acids. Due to the poor solubility of cystine at the usual urine pH, formation of cystine crystals and stones ensues. Incidence of homozygotes is estimated at 1 in 7000 births worldwide, but is lower in European countries and much higher in populations with frequent consanguinity. Cystine stones represent 1–2% of all stones in adults and 5–8% in paediatric patients, with an equal distribution between males and females.Cystinuria is caused by inactivating mutations in the gene SLC3A1 or SLC7A9, both encoding proteins contributing to the function of the heterodimeric transport system of cystine.Cystine nephrolithiasis may present in infants, most frequently in adolescents or young adults, sometimes later. Cystine calculi are weakly radio-opaque. Stone analysis using infrared spectroscopy (or X-ray diffraction) allows immediate and accurate diagnosis. Urinary amino acid chromatography quantifies urinary cystine excretion, needed to define the therapeutic strategy.Urological treatment of cystine stones currently uses extracorporeal stone wave lithotripsy or flexible ureterorenoscopy with Holmium laser, that is, minimally invasive techniques. However, as cystine stones are highly recurrent, preventive therapy is essential.Medical treatment combines reduced methionine and sodium intake, to lower cystine excretion; hyperdiuresis (> 3 L/day) to reduce cystine concentration; and active alkalinization preferably using potassium citrate (40–80 mEq/day) to increase cystine solubility by rising urine pH up to 7.5–8. If these measures are insufficient to prevent recurrent stone formation, a thiol derivative (D-penicillamine or tiopronin), which converts cystine into a more soluble disulphide, should be added. Close monitoring and adherence of the patient to the therapeutic programme are needed to ensure life-long compliance, the key for successful prevention in the long term.

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