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The Symposia, 1933 — 2003

1986:   Molecular Biology of Homo Sapiens, Vol. LI

Organizer: James Watson


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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

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