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1 Bibliografia Le fonti originali p. 5: «Tradotto in molte lingue, tra cui l italiano» Judson, H.F., L ottavo giorno della creazione. La scoperta del DNA, trad. di R. Tecce, Editori Riuniti, Roma p. 10: «la cui regolazione genetica Monod e Jacob hanno studiato per molti anni» Jacob, F. e Monod, J., Genetic Regulatory Mechanisms in the Synthesis of Proteins, in «Journal of Molecular Biology», 3 (318), 1961, p. 1. Monod, J., From Enzymatic Adaptation to Allosteric ransi Transi tions, Nobel Lecture, 11 dicembre 1965, in Nobel Lectures, Physiology or Medicine , Elsevier, Amsterdam 1972, pp p. 17: «Si tratta delle molteplici giunzioni (splicing...» Lopez, A.J., Alternative Splicing of Pre-mRNA: Developmen Developmen tal Consequences and Mechanism of Regulation, in «Annual Reviews of Genetics», 32, 1998, pp Parmley, J.L., Urrutia, A.O., Potrzebowski, L., Kaessmann, H. e Hurst, L.D., Splicing and the Evolution of Proteins in Mammals, in «PLoS Biology», 5 (2), 2007, e14. p. 18: «Il concetto di errori congeniti del metabolismo (Inborn Errors of Metabolism, IEMs)» Garrod, A.E., Inborn Errors of Metabolism (1909), Frowde, Hodder and Stoughton, London 1923.

2 2 Il nono giorno della creazione p. 22: «Gerald M. Edelman (allora alla Rockefeller University), destinato a ricevere tre anni dopo (1972) il premio Nobel» Edelman, G.M., Antibody Structure and Molecular Immu Immu nology, Nobel Lecture, 2 dicembre 1972, in Physiology or Medicine , a cura di J. Lindsten, World Scientific Publishing Co., Singapore 1992, pp p. 23: «Questa struttura (genialmente identificata da James Watson e Francis Crick nel 1953)» Watson, J.D. e Crick, F.H.C., Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid, in «Na- ture», 171, 1953, pp p. 32: «nella pianta Arabidopsis thaliana, una variante (in termini tecnici, un allele ) di un certo gene» Sangster, T.A., Salathia, N., Lee, H.N., Watanabe, E., Schellenberg, K., Morneau, K. et al., HSP90-buffered Genet Genet ic Variation Is Common in «Arabidopsis thaliana», in «Pro- ceedings of the National Academy of Sciences USA», vol. 105, 2008, pp p. 34: «Uno dei più noti studiosi e divulgatori dell evo-devo, Sean B. Carroll» Carroll, S.B., Infinite forme bellissime. La nuova scienza dell Evo-Devo, trad. it. di S. Boi, Codice, Torino «interi volumi (tra i quali tre dell italiano Alessandro Minelli dell Università di Padova)» Minelli, A., Biological Systematics: The State of the Art, Chapman & Hall, London 1993., The Development of Animal Form: Ontogeny, Morphol Morphol ogy, and Evolution, Cambridge University Press, Cambridge 2003., Forme del divenire. Evo-devo. La biologia evoluzionistica dello sviluppo, Einaudi, Torino 2007; trad. ingl. Forms of Becoming: The Evolutionary Biology of Development, Princeton University Press, Princeton (NJ) «Nell editoriale introduttivo del primo numero di Evolution and Development»

3 Bibliografia 3 Raff, R.A., Arthur, W., Carroll, S.B., Coates, M.I. e Wray, G., Editorial: Chronicling the Birth of a Discipline, in «Evolution and Development», 1 (1), 1999, pp p. 35: «Nel 2009 Alessandro Minelli e i suoi collaboratori hanno scoperto, in Brasile, una specie di scolopendre» Minelli, A., Chagas-Júnior, A. e Edgecombe, G.D., Salta tional Evolution of Trunk Segment Number in Centipedes, in «Evolution and Development», 11 (3), 2009, pp «In un breve e chiarissimo saggio, Minelli sostiene che» Minelli, A., Evolutionary Developmental Biology Does Not Offer a Significant Challenge to the Neo-Darwinian Para digm, in F.J. Ayala e R. Arp (a cura di), Contemporary De bates in Philosophy of Biology, Wiley-Blackwell, Chichester (UK) 2010, cap. 12, pp p. 36: «come l americano Stuart Newman (New York Medical College) e l italiana Margherita Raineri (Università di Genova), giudicano possibile» Newman, S.A e Müller, G.B., Epigenetic Mechanisms of Character Origination, in «Journal of Experimental Zoology (Mol. Dev. Evol.)», 288, 2000, pp. ool Raineri, M., Revisiting the Past in View of the Future, in «Evolution and Development», 15 (1), 2013, pp doi: /ede.12008, Old and New Concepts in Evo-Devo, in P. Pontarotti (a cura di), Evolutionary Biology from Concept to Application, Springer-Verlag, Berlin-Heidelberg 2008, cap. 6, pp «gli americani Marc Kirschner (Harvard) e John Gerhart (Università della California, Berkeley), propongono una teoria» Kirschner, M.W. e Gerhart, J.C., The Plausibility of Life: Resolving Darwin s Dilemma, Yale University Press, New Haven (CT) «Massimo Pigliucci... con la sua teoria della plasticità fenotipica e di una sintesi allargata» Pigliucci, M. e Kaplan, J., Making Sense of Evolution: The

4 4 Il nono giorno della creazione Conceptual Foundations of Evolutionary Biology, The University of Chicago Press, Chicago (IL) Pigliucci, M. e Müller, G.B. (a cura di), Evolution: The Ex tended Synthesis, MIT Press, Cambridge (MA) p. 38: «Le conferenze Nobel dei tre studiosi sono una fonte illuminante» Lewis, E.B., The Bithorax Complex: The First Fifty Years, Nobel Lecture, 8 dicembre 1995, in Nobel Lectures, Physiol Physiol ogy or Medicine , a cura di N. Ringertz, World Scientific Publishing Co., Singapore 1997, pp Nüsslein-Volhard, C., The Identification of Genes Control ling Development in Flies and Fishes, Nobel Lecture, 9 dicembre 1995, in Nobel Lectures, Physiology or Medicine..., cit., pp Wieschaus, E.F., From Molecular Patterns to Morphogene sis: The Lessons from Drosophila, Nobel Lecture, 8 dicembre 1995, in Nobel Lectures, Physiology or Medicine..., cit., pp p. 39: «Sean B. Carroll ha reso famosa un immagine» Carroll, S.B., The Origins of Form: Ancient Genes, Recycled and Repurposed, Control Embryonic Development in Organ Organ isms of Striking Diversity, in «Natural History Magazine», 2005, p. 40: «uno splendido lavoro di Simon Sprecher e Heinrich Reichert» Sprecher, S.G. e Reichert, H., The Urbilateral Brain: Devel Devel opmental Insights into the Evolutionary Origin of the Brain in Insects and Vertebrates, in «Arthropod Structure and Development», 32 (1), 2003, pp p. 42: «promosso soprattutto dal biologo evoluzionista svizzero Andreas Wagner» Wagner, A., Robustness and Evolvability in Living Systems, Princeton University Press, Princeton (NJ) Schlosser, G. e Wagner, G.P. (a cura di), Modularity in De velopment and Evolution, The University of Chicago Press, Chicago (IL) 2004.

5 Bibliografia 5 «Come ben dimostrato da Peter e Rosemary Grant» Grant, P.R. e Grant, B.R., Evolution of Character Displace ment in Darwin s Finches, in «Science», 313 (5784), 2006, pp p. 43: «un lavoro apparso su Nature nel 2006» Abzhanov, A., Kuo, W.P., Hartmann, C., Grant, B.R., Grant P.R. e Tabin, C.J., The Calmodulin Pathway and Evolution of Elongated Beak Morphology in Darwin s Finches, in «Nature», 442, 3 agosto 2006, pp «Studiando questi fattori di regolazione, Clifford Tabin e Marc Kirschner» Kirschner, M.W. e Gerhart, J.C., The Plausibility of Life..., cit. «quasi si trattasse di scegliere i fagioli da un sacco» Haldane, J.B.S., A Defense of Beanbag Genetics, in «International Journal of Epidemiology», 37 (3), 1964, pp Ewens, W.J., Commentary: On Haldane s «Defense of Bean bag Genetics», in «International Journal of Epidemiology», vol. 37, 2008, pp «dal genetista russo Ivan Ivanovic Schmalhausen» Levit, G.S., Hossfeld, U. e Olsson, L., From the «Modern Synthesis» to Cybernetics: Ivan Ivanovich Schmalhausen ( ) and His Research Program for a Synthesis of Evolutionary and Developmental Biology, in «Journal of Experimental Zoology (Mol. Dev. Evol.)», 306B, 2006, pp p. 44: «definita anche canalizzazione» Bennett, T., Hines, G. e Leyser, O., Canalization: What the Flux?, in «Trends in Genetics», 30 (2), 2013, pp p. 45: «Anche il nono giorno ha trovato i suoi bravi divulgatori» Carroll, S.B., Infinite forme bellissime..., cit., The Making of the Fittest: DNA and the Ultimate Forensic Record of Evolution, Norton, New York Scott, G., Developmental Biology, Sinauer Associates, Sunderland (MA) 2013.

6 6 Il nono giorno della creazione p. 54: «Recenti studi di associazione tra asma e varianti geniche puntiformi distribuite in tutto il genoma» von Mutius, E. e Vercelli, D., Farm Living: Effects on Child Child hood Asthma and Allergy, in «Nature Reviews Immunology», 10 (12), 2010, pp doi: /nri2871 Holbreich, M., Genuneit, J., Weber, J., Braun-Fahrlaender, C., Waser, M. e von Mutius, E., Amish Children Living in Northern Indiana Have a Very Low Prevalence of Allergic Sensitization, in «Journal of Allergy and Clinical Immunology», 129, 2012, pp «hanno identificato varianti (alcune comuni, altre rare) in una quindicina di geni» Ober, C. e Vercelli, D., Gene-environment Interactions in Human Disease: Nuisance or Opportunity?, in «Trends in Genetics», 27, 2011, pp p. 57: «un approfondito studio genetico degli Hutteriti del South Dakota» Thompson, E.E., Sun, Y., Nicolae, D. e Ober, C., Shades of Gray: A Comparison of Linkage Disequilibrium between Hutterites and Europeans, in «Genetic Epidemiology», 34, 2010, pp Motika, C.A., Papachristou, C., Abney, M., Lester, L.A. e Ober, C., Rising Prevalence of Asthma Is Sex-specific in a US Farming Population, in «Journal of Allergy and Clinical Immunology», 128, 2011, pp PMCID: p. 58: «godono di una speciale protezione contro l asma» Van Hout, C.V., Levin, A.M., Rampersaud, E., Shen, H., O Connell, J.R., Mitchell, B.D., Shuldiner, A.R. e Douglas, J.A., Extent and Distribution of Linkage Disequilibrium in the Old Order Amish, in «Genetic Epidemiology», 34, 2010, pp PMCID: p. 61: «Raina M. Maier, con i colleghi» Maier, R.M., Pepper, I.L. e Gerba, C.P (a cura di), Envi ronmental Microbiology (Second Edition), Academic Press, Burlington (MA) 2009.

7 p. 63: «le differenze di frequenza sono notevoli» Bibliografia 7 Ortiz-Ortiz, M., Kartchner Caverns: Habitat Scale Communi ty Diversity and Function in a Carbonate Cave, PhD Dissertation, (Electronic) Graduate College, Soil, Water & Environmental Science, University of Arizona, p. 66: «Nel dicembre del 2013, sulla qualificatissima rivista scientifica internazionale Cell è stato pubblicato un articolo piuttosto strabiliante» Hsiao, E.Y., McBride, S.W., Hsien, S., Sharon, G., Hyde, E.R., McCue, T. et al., Microbiota Modulate Behavioral and Physiological Abnormalities Associated with Neurodevelop mental Disorders, in «Cell», 155 (7), 2013, pp doi: /j.cell p. 68: «in un suo recente articolo, intitolato, appunto, The Hu man Microbiome» Martinez, F.D., The Human Microbiome: Early Life Determi nant of Health Outcomes, in «Annals of the American Thoracic Society», 11, Suppl. 1, 2014, pp. S7-12. doi: / AnnalsATS MG p. 70: «Link scopre che nel fieno fradicio, a causa di un ossidazione, due molecole di cumarina si fondono in una singola doppia molecola, chiamata dicumarolo» Link, C.P., The Discovery of Dicumarol and Its Sequels, in «Circulation», 19, 1959, pp p. 71: «il Warfarin (nome commerciale della 4-idrossicumarina)» McClain, M.R., Palomaki, G.E., Piper, M. e Haddow, J.E., A Rapid-ACCE Review of CYP2C9 and VKORC1 Alleles Test est ing to Inform Warfarin Dosing in Adults at Elevated Risk for Thrombotic Events to Avoid Serious Bleeding, in «Genetics in Medicine», 10 (2), 2008, pp p. 74: «questi due geni sono stati battezzati con due diverse sigle» Biss, T.T., Avery, P.J., Brandão, L.R., Chalmers, E.A., Williams, M.D., Grainger, J.D. et al., VKORC1 and CYP2C9 Genotype and Patient Characteristics Explain a Large Propor tion of the Variability in Warfarin Dose Requirement among Children, in «Blood», 119 (3), 2012, pp

8 8 Il nono giorno della creazione p. 79: «Baulcombe è internazionalmente noto come pioniere in un settore della biologia» p. 80: «Gurdon insignito del titolo di baronetto e molto tardivamente, nel 2012, del premio Nobel per la medicina o la fisiologia» Gurdon, J.B., The Egg and the Nucleus: A Battle for Suprem Suprem acy, Nobel Lecture, 7 dicembre 2012, The Nobel Prize in Physiology or Medicine 2012, Nobelprize.org, Nobel Media AB, «aveva isolato il nucleo di cellule intestinali già altamente differenziate della ranocchia acquatica Xenopus laevis» Elsdale, T.R., Gurdon, J.B. e Fischberg, M., A Descrip Descrip tion of the Technique echnique for Nuclear Transplantation ransplantation in «Xeno «Xeno pus laevis», in «Journal of Embryology and Experimental Morphology», 8, 1960, pp «Insieme a Gurdon, il Nobel 2012 è stato assegnato al giapponese Shinya Yamanaka» Yamanaka, S., The Winding Road to Pluripotency, Nobel Lecture, 7 dicembre 2012, The Nobel Prize in Physiology or Medicine 2012, Nobelprize.org, Nobel Media AB, laureates/2012/yamanaka-lecture.html. p. 81: «riverito come grande pioniere dell epigenetica» Waddington, C.H., The Strategy of the Genes, Routledge, London 1957., New Patterns in Genetics and Development, Columbia University Press, New York Cox, B.D., On the Difficulty in Getting Out of Historical Ruts: Waddington and an Argument for Behavioral Epigenetics, in «New Ideas in Psychology», 31 (3), 2013, pp doi: /j.newideapsych

9 Bibliografia 9 «Dopo aver ripetuto questo processo per una dozzina di generazioni successive» Waddington, C.H., The Genetic Basis of the «Assimilated Bithorax» Stock, in «Journal of Genetics», 55 (2), 1957, pp p. 84: «Tali trasformazioni, quando sono ereditate, tendono ad attenuarsi fino a scomparire nelle generazioni successive» Lim, J.P. e Brunet, A., Bridging the Transgenerational Gap with Epigenetic Memory, in «Trends in Genetics», 29, 3 marzo 2013, pp Minelli, A., Individuals, Hierarchies and the Levels of Selec tion: A Chapter in Stephen J. Gould s Evolutionary Theory, in G.A. Danieli, A. Minelli e T. Pievani (a cura di), Ste phen J. Gould: The Scientific Legacy, Springer, Milano 2013, pp p. 85: «correlano con la disponibilità di un certo gene a essere modificato epigeneticamente e quindi attivato o disattivato» Allis, C.D., Jenuwein, T., Reinberg, D. e Caparros, M.-L., Epigenetics, Cold Spring Harbor Laboratory Press, Cold Spring Harbor (NY) Gibbs, W.W., The Unseen Genome: Beyond DNA, in «Scientific American», dicembre 2003, pp Vercelli, D., Genetics, Epigenetics and the Environment: Switching, Buffering, Releasing, in «Journal of Allergy and Clinical Immunology», 113, 2004, pp p. 87: «Queste bobine, questi mini-complessi di proteine, chiamate istoni» Ueda, J., Maehara, K., Mashiko, D., Ichinose, T., Yao, T., Hori, M. et al., Heterochromatin Dynamics During the Differentiation Process Revealed by the DNA Methylation Reporter Mouse, MethylRO, in «Stem Cell Reports», 2 (6), 2014, pp doi: stemcr Ziller, M.J., Gu, H., Muller, F., Donaghey, J., Tsai, L.T.Y., Kohlbacher, O. et al., Charting a Dynamic DNA Methylation

10 10 Il nono giorno della creazione Landscape of the Human Genome, in «Nature», 500 (7463), 2013, pp doi: /nature12433 p. 90: «suggerito da Thomas Jenuwein e David Allis nel 2001» Jenuwein, T. e Allis, C.D., Translating the Histone Code, in «Science», 293 (5532), 2001, pp doi: papers://4a790be8-d7ff B51805B4C4BE / Paper/p31 p. 91: «è se un certo gene è stato ereditato dal padre o dalla madre» Gregg, C., Zhang, J., Weissbourd, B., Luo, S., Schroth, G.P., Haig, D. e Dulac, C., High-Resolution Analysis of Parent-of-Origin Allelic Expression in the Mouse Brain, in «Science», 329 (5992), 2010, pp doi: / science p. 92: «Richard Lewontin: quello di una tripla (si badi bene, tripla, non più doppia) elica» Lewontin, R.C., Gene, organismo e ambiente, Laterza, Roma- Bari 1998; trad. ingl. The Triple Helix: Gene, Organism and Environment, Harvard University Press, Cambridge (MA) «La biologia delle malattie complesse ha trovato una fondamentale radice nell epigenetica» Cortijo, S., Wardenaar, R., Colomé-Tatché, M., Gilly, A., Etcheverry, M., Labadie, K. et al., Mapping the Epigene tic Basis of Complex Traits, in «Sciencexpress», 29 gennaio 2014, pp Robinson, M.R., Wray, N.R. e Visscher, P.M., Explaining Additional Genetic Variation in Complex Traits, in «Trends in Genetics», 30 (4), 2014, pp doi: org/ /j.tig Stessman, H.A., Bernier, R. e Eichler, E.E., A Genotype- First Approach to Defining the Subtypes of a Complex Disease, in «Cell», 156 (5), 2014, pp doi: org/ /j.cell Yoon, J.-H., Abdelmohsen, K. e Gorospe, M., Functional Interactions among MicroRNAs and Long Noncoding RNAs,

11 Bibliografia 11 in «Seminars in Cell & Developmental Biology», ottobre doi: Ziller, M.J., Gu, H., Muller, F., Donaghey, J., Tsai, L.T.Y., Kohlbacher, O. et al., Charting a Dynamic DNA Methyla Methyla tion Landscape of the Human Genome, cit. p. 95: «Un approfondita teoria fisica e chimica» Giudice, E.D., Fuchs, E.C. e Vitiello, G., Collective Molecular Dynamics of a Floating Water Bridge, arxiv: v1 [physics.class-ph] 6 Apr 2010 p. 98: «in una loro breve nota su Nature Materials del marzo 2013» Zhou, E.H., Martinez, F.D. e Fredberg, J.J, Cell Rheology: Mush Rather Than Machine, in «Nature Materials», 12 (3), 2013, pp doi: /nmat3574 p. 99: «ha recentemente (gennaio 2014) pubblicato su Cell i risultati delle proprie ricerche sulla struttura interna dei batteri» Parry, B.R., Surovtsev, I.V., Cabeen, M.T., O Hern, C.S., Dufresne, E.R. e Jacobs-Wagner, C., The Bacterial Cyto Cyto plasm Has Glass-like Glass like Properties and Is Fluidized by Metabol Metabol Metabol ic Activity, in «Cell», 156, 16 gennaio 2014, pp doi: /j.cell p. 109: «Nel 1983 Mullis ha messo a punto la tecnologia» Mullis, K.B., The Polymerase Chain Reaction, Nobel Lecture, 8 dicembre 1993, The Nobel Prize in Chemistry 1993, Nobelprize.org, Nobel Media AB, mullis-lecture.html. Mullis, K.B., Ferré, F. e Gibbs, R.A. (a cura di), The Poly Poly merase Chain Reaction, Birkhäuser, Boston (MA) p. 110: «le applicazioni alle inchieste giudiziarie e ai test di paternità» Il caso di Yara Gambirasio è di gran lunga il più noto in Italia. AAVV, Yara. Il DNA e altre verità, RCS Mediagroup, Milano 2014.

12 12 Il nono giorno della creazione p. 111: «Il biochimico canadese Michael Smith» Smith, M., Synthetic DNA and Biology, Nobel Lecture, 8 dicembre 1993, in Nobel Lectures, Chemistry , a cura di B.G. Malmström, World Scientific Publishing Co., Singapore 1997, pp , Nobel Media AB, nobelprize.org/nobel_prizes/chemistry/laureates/1993/ smith-lecture.html. p. 112: «Il New York Times riporta una storia modello» Zimmer, C., In a First, Test of DNA Finds Root of Illness, in «The New York Times», 4 giugno «apparsa di recente sul prestigioso New England Journal of Medicine» Wilson, M.R., Naccache, S.N., Samayoa, E., Biagtan, M., Bashir, H., Yu, G. et al., Actionable Diagnosis of Neurolepto spirosis by Next-Generation Sequencing, in «New England Journal of Medicine», 370 (25), 2014, pp doi: /NEJMoa p. 113: «viene messa in opera da dispositivi commerciali ampiamente diffusi nei laboratori» An Introduction to Next-Generation Sequencing Technolo gy, p. 116: «un nutrito gruppo di microbiologi ed epidemiologi americani» Final presentation and evaluation of epidemiological findings in the EHEC O104:H4 Outbreak, Germany 2011, Robert Koch Institut, blob=publicationfile. p. 118: «il consorzio del Wellcome Trust ha pubblicato sulla rivista Nature» Wellcome Trust Consortium, Genome-wide Association Stu dy of 14,000 Cases of Seven Common Diseases and 3,000 Sha red Controls, in «Nature», 447, 7 giugno 2007, pp p. 122: «una serie prodigiosa di scoperte bioingegneristiche e di ingegneria chimica»

13 Bibliografia 13 Flint, J., GWAS, in «Current Biology», 23 (7), 2013, pp. R265- R266. doi: Maurano, M.T., Humbert, R., Rynes, E., Thurman, R.E., Haugen, E., Wang, H. et al., Systematic Localization of Common Disease-Associated Variation in Regulatory DNA, in «Science», 337, 7 settembre 2012, pp Robinson, M.R., Wray, N.R. e Visscher, P.M., Explaining Additional Genetic Variation in Complex Traits, in «Trends in Genetics», 30 (4), 2014, pp doi: org/ /j.tig Kumar, V., Westra, H.-J., Karjalainen, J., Zhernakova, D.V., Esko, T., Hrdlickova, B. et al., Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression, in «PLoS Genetics», 9 (1), 2013, e doi: /journal.pgen Christoforou, A., Espeseth, T., Davies, G., Fernandes, C.P.D., Giddaluru, S., Mattheisen, M. et al., GWAS-based Pathway Analysis Differentiates between Fluid and Crystal lized Intelligence, in «Genes, Brain and Behavior», 13 (7), 2014, pp doi: /gbb p. 123: «I Manhattan plots» Moffatt, M.F., Gut, I.G., Demenais, F. et al., A Large-Scale, Consortium-Based Genomewide Association Study of Asth ma, in «New England Journal of Medicine», 363, 23 settembre 2010, pp Ober, C. e Nicolae, D.L., Meta-analysis of Genome-wide Association Studies of Asthma in Ethnically Diverse North American Populations, in «Nature Genetics», 43 (9), 2011, pp doi: v43/n9/abs/ng.888.html#supplementary-information Jackson, D.J., Gangnon, R.E., Evans, M.D., Roberg, K.A., Anderson, E.L., Pappas, T.E. et al., Wheezing Rhinovirus Illnesses in Early Life Predict Asthma Development in High- Risk Children, in «American Journal of Respiratory and Critical Care Medicine», 178 (7), 2008, pp doi: /rccm OC p. 126: «gruppi di ricerca in tutto il mondo stanno già sviluppando terapie mirate»

14 14 Il nono giorno della creazione Zuk, O., Schaffner, S.F., Samocha, K., Do, R., Hechter, E., Kathiresan, S. et al., Searching for Missing Heritability: De signing Rare Variant Association Studies, in «Proceedings of the National Academy of Sciences», 111 (4), 2014, pp. E455-E464. King, C.R., Rathouz P.J. e Nicolae, D.L., An Evolutionary Framework for Association Testing in Resequencing Studies, in «PLoS Genetics», 11 novembre doi: / journal.pgen p. 128: «una nuova fase della genetica e della medicina, chiamata, opportunamente, post-gwas e tutta centrata sugli studi funzionali» Zhang, X., Bailey, S.D. e Lupien, M., Laying a Solid Founda tion for Manhattan «Setting the Functional Basis for the Post-GWAS Era», in «Trends in Genetics», 30 (4), 2014, pp doi: p. 135: «Il professor Daniel Anderson» Yin, H., Xue, W., Chen, S., Bogorad, R.L., Benedetti, E., Grompe, M. et al., Genome Editing with Cas9 in Adult Mice Corrects a Disease Mutation and Phenotype, in «Nature Biotechnology», 32 (6), 2014, pp doi: / nbt.2884 p. 137: «Nel corso della loro lunghissima evoluzione, i batteri» Sorek, R., Kunin, V. e Hugenholtz, P., CRISPR A Wide spread System That Provides Acquired Resistance against Phages in Bacteria and Archaea, in «Nature Reviews Microbiology», 6 (3), 2008, pp Cong, L., Ran, F.A., Cox, D., Lin, S., Barretto, R., Habib, N. et al., Multiplex Genome Engineering Using CRISPR/Cas Systems, in «Science», 339 (6121), 2013, pp p. 143: «Fabienne Chevance e Kelly Hughes dell Università dello Utah» Chevance, F.F.V., Le Guyon, S. e Hughes, K.T., The Effects of Codon Context on In Vivo Translation Speed, in «PLoS Genetics», 10 (6), 2014, e doi: /journal. pgen

15 Bibliografia 15 p. 145: «è stata riportata nel dicembre del 2012 su Nature Genetics» Elia, J., Glessner, J.T., Wang, K., Takahashi, N., Shtir, C.J., Hadley, D. et al., Genome-wide Copy Number Variation Study Associates Metabotropic Glutamate Receptor Gene Networks with Attention Deficit Hyperactivity Disorder, in «Nature Genetics», 44 (1), pp doi: html#supplementary-information p. 146: «L Halobacterium halobium è un microrganismo fototattico» Bogomolni, R.A. e Spudich, J.L., Identification of a Third Rhodopsin-like Pigment in Phototactic «Halobacterium ha lobium», in «Proceedings of the National Academy of Sciences USA», 79, ottobre 1982, pp p. 147: «l impatto dell optogenetica sullo studio del cervello e del comportamento» Vogelstein, J.T., Park, Y., Ohyama, T., Kerr, R.A., Truman, J.W., Priebe, C.E. e Zlatic, M., Discovery of Brainwide Neural-Behavioral Maps via Multiscale Unsupervised Struc ture Learning, in «Science», 344 (6182), 2014, pp doi: /science «una nutrita équipe di dieci ricercatori di Harvard e del MIT» Konermann, S., Brigham, M.D., Trevino, A.E., Hsu, P.D., Heidenreich, M., Cong, L. et al., Optical Control of Mam malian Endogenous Transcription and Epigenetic States, in «Nature», 500 (7463), 2013, pp doi: / nature12466 p. 151: «Umberto Veronesi, insieme a due docenti di psicologia» Bonnani, B., Gorini, A., Pravettoni, G. e Veronesi, U., The Role of Heuristics and Biases in Cancer-related Decisions (Edi torial), in «ecancermedicalscience», 13 ottobre 2013, pp p. 153: «Un consigliere genetico deve, per forza di cose» Yu, J.-H., Harrell, T.M., Jamal, S.M., Tabor, H.K. e Bamshad, M.J., Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequenc Sequenc

16 16 Il nono giorno della creazione ing, in «The American Journal of Human Genetics», 95 (1), 2014, pp doi: /j.ajhg «geni ad alto rischio come BRCA1 e BRCA2» «mutazioni ereditarie nel gene APC predispongono alla poliposi adenomatosa» «varianti (alleli) del gene HLA-B*5701 predispongono all ipersensibilità all abacavir» Mallal, S., Phillips, E., Carosi, G., Molina, J.-M., Workman, C., Tomažič, J. et al., HLA-B*5701 Screening for Hypersensitivity to Abacavir, in «New England Journal of Medicine», 358 (6), 2008, pp doi: / NEJMoa p. 154: «per la mutazione C282Y nel gene HFE» Surber, R., Sigusch, H.H., Kuehnert, H. e Figulla, H.R., Haemochromatosis (HFE) Gene C282Y Mutation and the Risk of Coronary Artery Disease and Myocardial Infarction: A Study in 1279 Patients Undergoing Coronary Angiogra Angiogra Angiogra phy, in «Journal of Medical Genetics», 40 (5), 2003, e58. p. 160: «un lucido saggio del 2009» Gallistel, C.R. e King, A.P., Memory and the Computational Brain: Why Cognitive Science Will Transform Neuroscience, Wiley-Blackwell, Chichester (UK)-Malden (MA) «neuroni reticolo (grid neurons)» Moser, E.I., Kropff, E. e Moser, M.B., Place Cells, Grid Cells, and the Brain s Spatial Representation System, in «Annual Reviews Neuroscience», 31, 2008, pp doi: / annurev.neuro p. 161: «molto famoso fu quello del paziente H.M.» Corkin, S., Permanent Present Tense: The Man with No Memory, and What He Taught the World, Penguin Books, London 2013.

17 Bibliografia 17 Il caso fu da me sintetizzato sul «Corriere della Sera»: Piattelli Palmarini, M., L uomo che ricominciava a vivere ogni 30 secondi, 9 giugno p. 162: «Un saggio del 1978, presto diventato un classico» O Keefe, J. e Nadel, L., The Hippocampus as a Cognitive Map, The Clarendon Press, Oxford «I coniugi Moser, che hanno diviso con O Keefe il Nobel» Moser, E.I., Grid Cells and the Enthorinal Map of Space, Nobel Lecture, 7 dicembre 2014, The Nobel Prize in Physiology or Medicine 2014, Nobelprize.org, Nobel Media AB, laureates/2014/edvard-moser-lecture.html. Moser, M.-B., Grid Cells, Place Cells and Memory, Nobel Lecture, 7 dicembre 2014, The Nobel Prize in Physiology or Medicine 2014, Nobelprize.org, Nobel Media AB, laureates/2014/may-britt-moser-lecture.html. O Keefe, J., Spatial Cells in the Hippocampal Formation, Nobel Lecture, 7 dicembre 2014, The Nobel Prize in Physiology or Medicine 2014, Nobelprize.org, Nobel Media AB, laureates/2014/okeefe-lecture.html. «Bruce McNaughton, Carol Barnes e i loro studenti» Mehta, M.R., Barnes, C.A. e McNaughton, B.L., Expe rience-dependent, Asymmetric Expansion of Hippocampal Place Fields, in «Proceedings of the National Academy of Sciences», 94 (16), 1997, pp Hartley, T., Lever, C., Burgess, N. e O Keefe, J., Space in the Brain: How the Hippocampal Formation Supports Spatial Cognition, in «Philosophical Transactions of the Royal Society of London. Series B», 369 (1635), 5 febbraio 2014, pp p. 163: «in un saggio intitolato Una memoria prodigiosa» Lurjia, A.R., Una memoria prodigiosa. Viaggio tra i miste ri del cervello umano, trad. it. di A. Villa, Mondadori, Milano 2002.

18 18 Il nono giorno della creazione p. 164: «un équipe di otto ricercatori australiani e americani» Cheeseman, J.F., Millar, C.D., Greggers, U., Lehmann, K., Pawley, M.D.M., Gallistel, C.R. et al., Way-finding in Dis Dis placed Clock-shifted Bees Proves Bees Use a Cognitive Map, in «Proceedings of the National Academy of Sciences USA», Early Edition, «hanno reso celebri i cosiddetti neuroni specchio» Rizzolatti, G., Fadiga, L., Fogassi, L. e Gallese, V., Premotor Cortex and the Recognition of Motor Actions, in «Brain Research and Cognitive Brain Research», 3, 1996, pp p. 165: «Rizzolatti e colleghi (soprattutto Vittorio Gallese, Luciano Fadiga, Leonardo Fogassi e Alessandra Umiltà)» Fadiga, L., Fogassi, L., Gallese, V. e Rizzolatti, G., Vi suomotor Neurons: Ambiguity of the Discharge or «Motor» Perception?, in «International Journal of Psychophysiology», 35, 2000, pp p. 166: «le fasi intermedie dell azione di prensione venivano occultate da un paravento» Rizzolatti, G., Fogassi, L. e Gallese, V., Neurophysiologi cal Mechanisms Underlying the Understanding and Imita tion of Action, in «Nature Reviews Neuroscience», 2 (9), 2001, pp «Dubbi sono stati espressi da alcuni autori sull esistenza dei neuroni specchio nell uomo» Lingnau, A., Gesierich, B. e Caramazza, A., Asymmetric fmri Adaptation Reveals No Evidence for Mirror Neurons in Humans, in «Proceedings of the National Academy of Sciences», 106 (24), 2009, pp «Altre estrapolazioni sono state tentate, per esempio sull origine del linguaggio» Arbib, M.A., How the Brain Got Language: The Mirror Sys Sys tem Hypothesis, Oxford University Press, Oxford Pulvermüller, F. e Fadiga, L., Active Perception: Sensorim Sensorim otor Circuits as a Cortical Basis for Language, in «Nature Reviews Neuroscience», 11 (5), 2010, pp doi: /nrn2811

19 Bibliografia 19 «Pur dissentendo» Piattelli Palmarini, M. e Bever, T.G., The Fractionation of Miracles: Peer Commentary of the Article by Michael Ar bib: «From Monkey-like Action Recognition to Human Lan Lan guage: An Evolutionary Framework for Neurolinguistics», in «Behavioral and Brain Sciences», 2002, supplementi elettronici in Lotto, A.J., Hickok, G.S. e Holt, L.L., Reflections on Mir ror Neurons and Speech Perception, in «Trends in Cognitive Sciences», 13 (3), 2009, pp doi: org/ /j.tics Tettamanti, M. e Moro, A., Can Syntax Appear in a Mir ror (System)?, in «Cortex», 48 (7), luglio-agosto 2012, pp Moro, A., On the Similarity between Syntax and Actions, in «Trends in Cognitive Sciences», 18 (3), 2013, pp , Response to Pulvermüller: The Syntax of Actions and Other Metaphors, in «Trends in Cognitive Sciences», 18 (5), 2014, p doi: p. 176: «Più che geometria, è musica per le mie orecchie» Perin, R., Berger, T.K. e Markram, H., A Synaptic Orga Orga nizing Principle for Cortical Neuronal Groups, in «Proceed- ings of the National Academy of Sciences», 108 (13), 2011, pp p. 178: «Koch e collaboratori hanno scoperto che in neuroni tra loro vicini sono attivi geni molto simili» Hawrylycz, M.J., Lein, E.S., Guillozet-Bongaarts, A.L., Shen, E.H., Ng, L., Miller, J.A. et al., An Anatomically Com prehensive Atlas of the Adult Human Brain Transcriptome, in «Nature», 489 (7416), 2012, pp doi: «La variante usata da Koch si chiama raav» Lange, W., Jin, L., Maybeck, V., Meisenberg, A., Baumann, A. e Offenhäusser, A., Recombinant Adeno-associated Vi Vi rus (raav)-mediated (raav) mediated Transduction ransduction and Optogenetic Ma Ma Ma

20 20 Il nono giorno della creazione nipulation of Cortical Neurons in Vitro, in «Proceedings SPIE 8928, Optical Techniques in Neurosurgery, Neurophotonics, and Optogenetics», 89282S, 24 marzo doi: / p. 180: «Poi passa a parlare del trascrittoma, un ulteriore neologismo» Hawrylycz, M.J., Lein, E.S., Guillozet-Bongaarts, A.L., Shen, E.H., Ng, L., Miller, J.A. et al., An Anatomically Com Com Com prehensive Atlas of the Adult Human Brain Transcriptome, cit. p. 183: «di cui Deisseroth è stato pioniere» Deisseroth, K., Optogenetics (Method of the Year), in «Nature Methods», 8, 1º gennaio 2011, pp Williams, S.C.P. e Deisseroth, K., Optogenetics, in «Proceedings of the National Academy of Sciences USA», 110 (41), 8 ottobre 2013, p. 185: «Deisseroth e Chung sono riusciti a dissolvere lo strato di lipidi» Chung, K. e Deisseroth, K., CLARITY for Mapping the Ner vous System, in «Nature Methods», 10 (6), 2013, pp doi: /nmeth.2481 p. 190: «Con l ausilio di queste sonde Anirban penetra all interno dei neuroni per esplorarne l attività» Elsevier, Discovery of Quantum Vibrations in «Microtubules» Inside Brain Neurons Supports Controversial Theory of Con Con sciousness, in «ScienceDaily», 16 gennaio 2014, htm. p. 191: «Già nel 2008, a Tsukuba, con i suoi collaboratori» Ghosh, S., Dutta, M., Sahu, S., Fujita, D. e Bandyopadhyay, A., Nano Molecular-Platform: A Protocol to Write En En ergy Transmission ransmission Program Inside a Molecule for Bio Inspi Bio Inspi Inspi red Supramolecular Engineering, in «Advanced Functional Materials», doi: DOI: /adfm Ghosh, S., Aswani, K., Singh, S., Sahu, S., Fujita, D. e Bandyopadhyay, A., Design and Construction of a Brain-

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