1986: Molecular Biology of Homo Sapiens, Vol. LI
Organizer: James Watson
Part 1 Symposium Participants vForeword xvIntroductionHuman Genetics: The Molecular Challenge W.F. Bodmer 1Human Gene MapSummaries and Recent AdditionsThe Gene Map of Homo sapiens: Status and Prospectus V.A. McKusick 15Construction of Human Genetic Linkage Maps: I. Progress and Perspectives R. White, M. Leppert, P. O'Connell, Y. Nakamura, C. Julier, S. Woodward, A. Silva, R. Wolff, M. Lathrop, and J.-M. Lalouel 29Construction of Human Genetic Linkage Maps: II. Methodological Issues J.-M. Lal- ouel, G.M. Lathrop, and R.. White 39Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map E. Lander and D. Botstein 49Human Major Histocompatibility Complex Genes: Class I Antigens and Tumor Necro- sis Factors J.L. Stromingert 63Polymorphism and Regulation of HLA Class II Genes of the Major Histocompatibility Complex B. Mach, J. Gorski, P. Rollini, C. Berte, L Almaldi, J. Berdoz, and C. Ucla 67Molecular Biology of the Class II Region of the Human Major Histocompatibility Complex J.I. Bell, D. Denney, L. Foster, B. S.M. Lee, D. Hardy, and H. O. McDevitt 75HLA Class II RFLPs Are Haplotype-specific S. W. Serjeantson, M.R.J. Kohonen- Corish, H. Dunckley, and M.A. Reid 83Identification of DNA Repair Genes in the Human Genome J.H.J. Hoeijmakers, M. van Duin, A. Westerveld, A. Yasui, and D. Bootsma 91Seven Unidentified Reading Frames of Human Mitochondrial DNA Encode Subunits of the Respiratory Chain NADH Dehydrogenase G. Attardi, A. Chomyn, R.F. Doolittle, P. Mariottini, and C.L Ragan 103New Mapping StrategiesApproaches to Physical Mapping of the Human Genome C.L. Smith and C.R. Can tor 115Molecular Approaches to the Characterization of Megabase Regions of DNA: Appli- cations to the Human Major Histocompatibility Complex S.K. Lawrance, R. Srivastava, B. Rigas, M.J. Chorney, G.A. Gillespie, C.L. Smith, C.R. Cantor, F.S. Collins, and S.M. Weissman 123Molecular Approaches to Mammalian Genetics A. Poustka, T. Pohl, D.P. Barlow, G. Zehetner, A. Craig, F. Michiels, E. Ehrich, A.-M. Frischauf, and H. Lehrach 131Flow Karyotyping and Sorting of Human Chromosomes J. W. Gray, J. Lucas, D. Peters, D. Pinkel, B. Trask, G. van den Engh, and M. Van Dilla 141Cytogenetic Analysis by In Situ Hybridization with Fluorescently Labeled Nucleic Acid Probes D. Pinkel, J. W. Gray, B. Trask, G. van den Engh, J. Fuscoe, and H. van Dekken 151Construction of Human Chromosome-specific DNA Libraries from Flow-sorted Chromosomes L.L. Deaven, M.A. Van Dilla, M.F. Bartholdi, A. V. Carrano, L. S. Cram, J. C. Fuscoe, J. W. Gray, C.E. Hildebrand, R.K. Moyzis, and J. Pen man 159Flow-sorting Analysis of Normal and Abnormal Human Genomes R. V. Lebo, L.A. Anderson, Y.-F. C. Lau, R. Flandermeyer, and Y. W. Kan 169Cloning the Gene for the Inherited Disorder Chronic Granulomatous Disease on the Basis of Its Chromosomal Location B. Royer-Pokora, L.M. Kunkel, A.P. Mon- aco, S.C. Goff, P.E. Newburger, R.L. Baehner, F.S. Cole, J. T. Curnutte, and S.H. Orkin 177Reduced Recombination Rate on Chromosomes 21 That Have Undergone Nondis- junction S.E. Antonarakis, A. Chakravarti, A.C. Warren, S.A. Slaugenhaupt, C. Wong, S.L. Halloran, and C. Metaxotou 185Recombination along Sex ChromosomesGenetic Recombination and Disease M. Siniscalco 191Genetic Mapping of the Human X Chromosome: Linkage Analysis of the q26-q28 Region That Includes the Fragile X Locus and Isolation of Expressed Sequences J.L. Mandel, B. Arveiler, G. Camerino, A. Hanauer, R. Heilig, M. Koenig, and I. Oberlé 195Molecular Genetics of MIC2: A Gene Shared by the Human X and Y Chromosomes S.M. Darling, P.J. Goodfellow, B. Pym, G.S. Banting, C. Prit- chard, and P.N. Goodfellow 205Variability at the Telomeres of the Human X/Y Pseudoautosomal Region H.J. Cooke and B.A. Smith 213The Pseudoautosomal Region of the Human Sex Chromosomes F. Rouyer, M.-C. Simmler, G. Vergnaud, C. Johnsson, J. Levilliers, C. Petit, and J. Weissenbach 221Sex Reversal: Deletion Mapping the Male-determining Function of the Human Y Chromosome D.C. Page 229A Molecular Approach to the Study of the Human Y Chromosome and Anomalies of Sex Determination in Man F. Seboun, P. Leroy, M. Casanova, F. Magenis, C. Boucekkine, C. Disteche, C. Bishop, and M. Fellous 237Genetic and Molecular Studies on 46,XX and 45,X Males A. de la Chapelle 249Genetic DiagnosisDevelopment of New MethodologiesApplication of Synthetic DNA Probes to the Analysis of DNA Sequence Variants in Man R.B. Wallace, L.D. Petz, and P.Y. Yam 257Specific Enzymatic Amplification of DNA In Vitro: The Polymerase Chain Reaction K. Mullis, F. Faloona, S. Scharf, R. Saiki, G. Horn, and H. Erlich 263Recent Advances in the Development of Methods for Detecting Single-base Substitu- tions Associated with Human Genetic Diseases R.M. Myers and T. Maniatis 275Searching for Gene Defects by Denaturing Gradient Gel Electrophoresis L.S. Ler- man, K. Silverstein, and E. Grinfeld 285DNA-based Detection of Chromosome Deletion and Amplification: Diagnostic and Mechanistic Significance S.A. Latt, M. Lalande, T. Donlon, A. Wyman, F. Rose, Y. Shiloh, B. Korf, U. Müller, K. Sakai, N. Kanda, J. Kang, H. Stroh, P. Harris, G. Bruns, R. Wharton, and L. Kaplan 299Applications: Cystic Fibrosis, Muscular Dystrophy, Huntington's Disease, Hemophilia A, Down's Syndrome, PKU, and Heart DiseaseMolecular Genetics and the Basic Defect Causing Cystic Fibrosis R. Williamson, G. Bell, J. Bell, G. Bates, K.A. Davies, X. Estivill, M. Farrall, H. Kruyer, H.Y. Law, N. Lench, P. Scambler, P. Stanier, B. Wain wright, E. Watson, and C. Worral 309 Highly Polymorphic RFLP Probes as Diagnostic Tools H. Donis-Keller, D.F. Bar- ker, R.G. Knowlton, J.W. Schumm, J.C. Braman, and P. Green 317Mapping of the Cystic Fibrosis Locus on Chromosome 7 L.-C. Tsui, S. Zengerling, H.F. Willard, and M. Buchwald 325
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Molecular Analysis of Human X-linked Diseases K.E. Davies, S.P. Ball, H.R. Dor- kins, S.M. Forrest, S.J. Ken wrick, A.W. King, I.J.D. Lavenir, S.A. McGlade, M.N. Patterson, T.J. Smith, L. Wilson, K. Paulsen, A. Speer, and C. Coutelle 337 Analysis of an X-autosome Translocation Responsible for X-linked Muscular Dystrophy R.G. Worton, P.N. Ray, S. Bodrug, and M.W. Thompson 345 Molecular Genetics of Duchenne Muscular Dystrophy L.M. Kunkel, A .P. Monaco, C.J. Bertelson, and C.A. Colletti 349 Carrier Detection and Gene Analysis of Duchenne Muscular Dystrophy P.L. Pear- son, G.J.B. van Ommen, and E. Bakker 353 Molecular Genetics of Huntington's Disease J.F. Gusella, T.C. Gilliam, R.E. Tanzi, M.E. MacDonald, S.V. Cheng, M. Wallace, J. Haines, P.M. Conneally, and N.S. Wexler 359 Cloned Factor VIII and the Molecular Genetics of Hemophilia R.M. Lawn, W.I. Wood, J. Gitschier, K.L. Wion, D. Eaton, G.A. Vehar, and E.G.D. Tuddenham 365 Comparison of Deficiency Alleles of the b-Globin and Factor VIII:C Genes: New Les- sons from a Giant Gene H.H. Kazazian, Jr., S.E. Antonarakis, H. Youssoufian, C.E. Dowling, D. G. Phillips, C. Wong, and C.D. Boehm 371 Molecular Genetics of Down's Syndrome: Overexpression of Transfected Human Cu/ Zn-Superoxide Dismutase Gene and the Consequent Physiological Changes Y. Groner, O. Elroy-Stein, Y. Bernstein, N. Dafni, D. Levanon, F. Danciger, and A. Neer 381 Molecular Basis of Phenylketonuria and Potential Somatic Gene Therapy S.L. C. Woo, A. G. DiLella, J. Marvit, and F.D. Ledley 395 Molecular Genetics of Apolipoproteins and Coronary Heart Disease S. Deeb, A. Fai- br, B.G. Brown, J.D. Brunzell, J.J. Albers, and A. G. Motulsky 403 Human Evolution DNA Markers and Genetic Variation in the Human Species L.L. Cavalli-Sforza, J.R. Kidd, K.K. Kidd, C. Bucci, A.M. Bowcock, B.S. Hewlett, and J.S. Friedlaender 411 Fossil Evidence on Human Origins and Dispersal P. Andrews 419 Hominoid Evolution Based on the Structures of Immunoglobulin Epsilon and Alpha Genes S. Ueda, Y. Watanabe, H. Hayashida, T. Miyata, F. Matsuda, and T. Honjo 429 Rate of Sequence Divergence Estimated from Restriction Maps of Mitochondrial DNAS from Papua New Guinea M. Stoneking, K. Bhatia, and A.C. Wilson 433 Molecular Genetic Investigations of Ancient Human Remains S. Pääbo 441 Relationships of Human Protein Sequences to Those of Other Organisms R.F. Doo- little, D.F. Feng, M.S. Johnson, and M.A. McClure 447 The Abundant LINE-l Family of Repeated DNA Sequences in Mammals: Genes and Pseudogenes J. Skowronski and M.F. Singer 457 The LINE-l Family of Primates May Encode a Reverse Transcriptase-like Protein Y. Sakaki, M. Hattori, A. Fujita, K. Yoshioka, S. Kuhara, and O. Takenaka 465 Repetitive Human DNA Sequences I. Evolution of the Primate a-Globin Gene Cluster and Interspersed Alu Repeats I. Sawada and C.W. Schmid 471 II. Properties of a Transposon-like Human Element N. Deka, K.E. Paulson, C. Willard, and C.W. Schmid 473 The Human Genome and Its Evolutionary Context G. Bernardi and G. Bernardi 479 The Population Genetics of a-Thalassemia and the Malaria Hypothesis A.V.S. Hill 489 The Primate a-Globin Gene Family: A Paradigm of the Fluid Genome J. Marks, J.-P. Shaw, C. Perez-Stable, W.-S. Hu, T.M. Ayres, C. Shen, and C.-K.J. Shen 499 Drugs Made Off Human Genes Clotting, Anti-clotting Factors Structural Features of the Proteins Participating in Blood Coagulation and Fibrinolysis E.W. Davie, A. Ichinose, and S.P. Leytus 509 Cloning of cDNA and Genomic DNA for Human von Willebrand Factor J.E. Sadler, B.B. Shelton-Inloes, J.M. Sorace, and K. Titani 515 Structure and Evolution of the Human Genes Encoding Protein C and Coagulation Factors VII, IX, and X G.L. Long 525 Isolation and Expression of cDNAs Encoding Human Factor VII K. Berkner, S. Busby, E. Davie, C. Hart, M. Insley, W. Kisiel, A. Kumar, M. Murray, P. O'Hara, R. Woodbury, and F. Hagen 531 Exploration of Structure-Function Relationships in Human Factor VIII by Site-di- rected Mutagenesis J.J. Toole, D. Pittman, P. Murtha, L.C. Wasley, J. Wang, G. Amphlett, R. Hewick, W.B. Foster, R. Kamen, and R..J. Kaufma 543 Characterization Studies of Human Tissue-type Plasminogen Activator Produced by Recombinant DNA Technology G.A. Vehar, M.W. Spellman, B.A. Keyt, C.F. Ferguson, R.G. Keck, R.C. Chioupek, R. Harris, W.F. Bennett, S.E. Builder, and W.S. Hancock 551 Biochemical and Biological Properties of Single-chain Urokinase-type Plasminogen Activator D.C. Stump, H.R. Lijnen, and D. Collen 563 Anti-cancer Agents Interferon Production from Human Cell Cultures N.B. Finter, G.D. Ball, K.H. Fantes, M.D. Johnston, and W.G. Lewis 571 Interleukin-2 and Its Receptor: Structure and Functional Expression of the Genes T. Taniguchi, T. Fujita, M. Hatakeyama, H. Mon, H. Matsui, T. Sato, J. Hamuro, S. Minamoto, G. Yamada, and H. Shibuya 577 Lymphokines and Monokines in Anti-cancer Therapy W. Fiers, P. Brouckaert, R. Devos, L. Fransen, G. Leroux-Roels, E. Remaut, P. Suffys, J. Tavernier, J. Van der Heyden, and F. Van Roy 587 Tumor Necrosis Factors: Gene Structure and Biological Activities D.V. Goeddel, B.B. Aggarwal, P.W. Gray, D.W. Leung, G.E. Nedwin, M.A. Palladino, J.S. Patton, D. Pennica, H.M. Shepard, B.J. Sugarman, and G.H. W. Wong 597 Tandem Arrangement of Genes Coding for Tumor Necrosis Factor (TNF-a) and Lym- photoxin (TNF-b) in the Human Genome S.A. Nedospasov, A.N. Shakhov, R.L. Turetskaya, V.A. Mett, M.M. Azizov, G.P. Georgiev, V.G. Korobko, V.N. Dob- rynin, S.A. Filippov, N.S. Bystrov, E.F. Boldyreva, S.A. Chuvpilo, A.M. Chu- makov, L.N. Shingarova, and Y.A. Ovchinniko 611 Cachectin: The Dark Side of Tumor Necrosis Factor A. Cerami and B. Beutler 625 Molecular Biology of Interleukin-l P.T. Lomedico, P.L. Kilian, U. Gubler, A.S. Stern, and R. Chi
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