 |
 LI: Molecular Biology of Homo sapiens 1986 |
 |
|
|
Drs. Paul Berg and Walter Gilbert leading the discussion session 'Sequencing of the Human Genome'  SYMPOSIUM SYNOPSIS LIST OF PARTICIPANTS CONTENTS OF SYMPOSIUM VOLUME PHOTOGRAPHS PUBLISHED VOLUME  |
Molecular Biology of Homo sapiens
Symposium Volume LI Contents
Part 1
Symposium Participants v
Foreword xv
Introduction
Human Genetics: The Molecular Challenge W.F. Bodmer 1
Human Gene Map
Summaries and Recent Additions
The Gene Map of Homo sapiens: Status and Prospectus V.A. McKusick 15
Construction 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 29
Construction of Human Genetic Linkage Maps: II. Methodological Issues J.-M. Lal- ouel, G.M. Lathrop, and R.. White 39
Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map E. Lander and D. Botstein 49
Human Major Histocompatibility Complex Genes: Class I Antigens and Tumor Necro- sis Factors J.L. Stromingert 63
Polymorphism 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 67
Molecular 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 75
HLA Class II RFLPs Are Haplotype-specific S. W. Serjeantson, M.R.J. Kohonen- Corish, H. Dunckley, and M.A. Reid 83
Identification of DNA Repair Genes in the Human Genome J.H.J. Hoeijmakers, M. van Duin, A. Westerveld, A. Yasui, and D. Bootsma 91
Seven 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 103
New Mapping Strategies
Approaches to Physical Mapping of the Human Genome C.L. Smith and C.R. Can tor 115
Molecular 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 123
Molecular 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 131
Flow 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 141
Cytogenetic 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 151
Construction 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 159
Flow-sorting Analysis of Normal and Abnormal Human Genomes R. V. Lebo, L.A. Anderson, Y.-F. C. Lau, R. Flandermeyer, and Y. W. Kan 169
Cloning 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 177
Reduced 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 185
Recombination along Sex Chromosomes
Genetic Recombination and Disease M. Siniscalco 191
Genetic 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 195
Molecular 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 205
Variability at the Telomeres of the Human X/Y Pseudoautosomal Region H.J. Cooke and B.A. Smith 213
The Pseudoautosomal Region of the Human Sex Chromosomes F. Rouyer, M.-C. Simmler, G. Vergnaud, C. Johnsson, J. Levilliers, C. Petit, and J. Weissenbach 221
Sex Reversal: Deletion Mapping the Male-determining Function of the Human Y Chromosome D.C. Page 229
A 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 237
Genetic and Molecular Studies on 46,XX and 45,X Males A. de la Chapelle 249
Genetic Diagnosis
Development of New Methodologies
Application of Synthetic DNA Probes to the Analysis of DNA Sequence Variants in Man R.B. Wallace, L.D. Petz, and P.Y. Yam 257
Specific Enzymatic Amplification of DNA In Vitro: The Polymerase Chain Reaction K. Mullis, F. Faloona, S. Scharf, R. Saiki, G. Horn, and H. Erlich 263
Recent Advances in the Development of Methods for Detecting Single-base Substitu- tions Associated with Human Genetic Diseases R.M. Myers and T. Maniatis 275
Searching for Gene Defects by Denaturing Gradient Gel Electrophoresis L.S. Ler- man, K. Silverstein, and E. Grinfeld 285
DNA-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 299
Applications: Cystic Fibrosis, Muscular Dystrophy, Huntington's Disease, Hemophilia A, Down's Syndrome, PKU, and Heart Disease
Molecular 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 317
Mapping 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. Chizzonite 631
Development of Mullerian Inhibiting Substance as an Anti-cancer Drug R.L. Cate, E.G. Ninfa, D. J. Pratt, D.T. MacLaughlin, and P.K. Donahoe 641
Growth Factors
Endogenous and Heterologous Expression of Transforming Growth Factor-a in Mam- malian cells R. Derynck, A. Rosenthal, P.B. Lindquist, T.S. Bringman, and D.V. Goeddel 649
Human Basic Fibroblast Growth Factor: Nucleotide Sequence, Genomic Organization, and Expression in Mammalian Cells J.A. Abraham, J.L. Whang, A. Tumolo, A. Mergia, and J. C. Fiddes 657
Human Growth Hormone: From Clone to Clinic P.H. Seeburg 669
Molecular and Biological Properties of Human Macrophage Growth Factor, CSF-l P. Ralph, M.K. Warren, M.B. Ladner, E.S. Kawasaki, A. Boosman, and T.J. White 679
Effects of N-linked Carbohydrate on the In Vivo Properties of Human GM-CSF R.E. Donahue, E.A. Wang, R.J. Kaufman, L. Foutch, A.C. Leary, J.S. Witek-Gian- netti, M. Metzger, R.M. Hewick, D.R. Steinbrink, G. Shaw, R. Kamen, and S.C. Clark 685
Erythropoietin: Gene Cloning, Protein Structure, and Biological Properties J.K. Browne, A .M. Cohen, J.C. Egrie, P.H. Lai, F.-K. Lin, T. Strickland, E. Watson, and N. Stebbing 693
Part 2
Receptors
The T4 Glycoprotein Is a Cell-surface Receptor for the AIDS Virus J.S. McDougal, P.J. Maddon, A.G. Dalgleish, P.R. Clapham, D.R. Littman, M. Godfrey, D.E. Maddon, L. Chess, R.A. Weiss, and R. Axel 703
Protein Kinases in Cellular Signal Transduction: Tyrosine Kinase Growth Factor Re- ceptors and Protein Kinase C. A. Ulirich, H. Riedel, Y. Yarden, L. Coussens, A. Gray, T. Dull, J. Schlessinger, M.D. Waterfield, and P.J. Parker 713
Protein Interactions at the Transferrin Receptor Gene Promoter W.K. Miskimins, M.P. Roberts, A. McClelland, and F.H. Ruddle 725
The Human Interleukin-2 Receptor: Role in Normal T-cell Growth and Association with HTLV-I-induced T-cell Leukemia W. C. Greene, J.M. Depper, M. Kronke, and W.J. Leonard 731
Interleukin-2 Receptor: Structure, Function, and Expression H. Kanamori, S. Kondo, M. Kinoshita, N. Suzuki, Y. Saito, H. Sabe, N. Matsunami, N. Ishida, A. Shim- izu, and T. Honjo 739
Structural and Functional Domains of the Estrogen Receptor S. Green, V. Kumar, A. Krust, P. Walter, and P. Chambon 751
Human Steroid Receptors and erbA Proto-oncogene Products: Members of a New Superfamily of Enhancer Binding Proteins C. Weinberger, V. Giguere, S. Hol- lenberg, M.G. Rosenfeld, and R.M. Evans 759
Mechanisms of Receptor-mediated Transmembrane Communication L. Ellis, D.O. Morgan, E. Clauser, M. Edery, S.-M. Jong, L.-H. Wang, R.A. Roth, and W. J. Rutter 773
Human T-cell Receptor Genes: Organization, Diversity, and Polymorphism P. Con- cannon, E. Lai, M. Klein, G. Siu, E. Strauss, L. Pickering, P. Kung, R. Gatti, andL. Hood 785
Structures and Evolution of the T-cell Antigen Receptor Genes T. W. Mak, N. Cac- cia, N. Kimura, R. Spolski, A. Iwamo to, P. Ohashi, M.D. Reis, and B. Toyonaga 797
HLA-DQ and T-cell Receptor Genes in Insulin-dependent Diabetes Mellitus M.L. Hoover, G. Angelini, E. Ball, P. Stastny, J. Marks, J. Rosenstock, P. Raskin, G.B. Ferrara, R. Tosi, and J.D. Capra 803
The LDL Receptor in Familial Hypercholesterolemia: Use of Human Mutations to Dissect a Membrane Protein D.W. Russell, M.A. Lehrman, T.C. Sudhof, T. Yamamoto, C.G. Davis, H.H. Hobbs, M.S. Brown, and J.L. Goldstein 811
Cellular and Molecular Biology of Lipoprotein Metabolism: Characterization of Li- poprotein Receptor-Ligand Interactions R. W. Mahley, T.L. Innerarity, K.H. Weisgraber, S.C. Rail, Jr., D.Y. Hui, A. Lalazar, J.K. Boyles, J.M. Taylor, and B. Levy-Wilson 821
Human Cancer Genes
Genetics of Predisposition to Cancer
Molecular Genetics of Human Familial Cancer W.K. Cavenee and M.F. Hansen 829
Mapping of Human Chromosome 11: Organization of Genes within the Wilms' Tumor Region of the Chromosome D.E. Housman, T. Glaser, D.S. Gerhard, C. Jones, G.A.P. Bruns, and W.H. Lewis 837
Molecular Genetic Analysis Reveals Chromosomal Deletion, Gene Amplification, and Autocrine Growth Factor Production in the Pathogenesis of Human Lung Cancer J.D. Minna, J.F. Battey, B.J. Brooks, F. Cuttitta, A.F. Gazdar, B.E. Johnson, D.C. Ihde, A.-M. Lebacq- Verheyden, J. Mulshine, M.M. Nau, H.K. Oie, E.A. Sausville, E. Seifter, and M. Vinocour 843
Chromosomal Mapping of Genes Involved in Growth Control U. Francke, T.L. Yang- Feng, J.E. Brissenden, and A. Ullrich 855
The Chromosome 11 Gene Map: Genes for Growth and Development, Wilms' Tumor Deletions, and Cancer Chromosome Breakpoints T.B. Shows, L.M. Davis, S. Qin, and N.J. Nowak 867
P450 Genes: Evolution, Regulation, and Relationship to Human Cancer and Pharmacogenetics F.J. Gonzalez, A.K. Jaiswal, and D. W. Nebert 879
Tumor-associated Gene Rearrangements
Molecular Genetics of Human B- and T-cell Neoplasia C.M. Croce, J. Erikson, F.G. Haluska, L.R. Finger, L. C. Showe, and Y. Tsujimoto 891
Assignment of the GM-CSF, CSF-1, and FMS Genes to Human Chromosome 5 Pro- vides Evidence for Linkage of a Family of Genes Regulating Hematopoiesis and for Their Involvement in the Deletion (Sq) in Myeloid Disorders M.M. Le Beau, M.J. Pettenati, R.S. Lemons, M.O. Diaz, C.A. Westbrook, R.A. Larson, C.J. Sherr, and J.D. Rowley 899
Oncogene Activation by Chromosomal Translocation in Chronic Myelocytic Leukemia J. Groffen, N. Heisterkamp, and K. Stain 911
Molecular Genetics of Antigen Receptors and Associated Chromosomal Abnormalities in Human Leukemias T.H. Rabbitts, R. Baer, L. Buluwela, L. Mengle-Gaw, A.M. Taylor, and P.H. Rabbitts 923
Onco genes and Cancer
The Human myc Gene Family F. W. Alt, R. DePinho, K. Zimmerman, E. Legouy, K. Hatton, P. Ferrier, A. Tesfaye, G. Yancopoulos, and P. Nisen 931
Colocalization of the myc Oncogene Protein and Small Nuclear Ribonucleoprotein Particles N.F. Sullivan, R.A. Watt, M.R. Delannoy, C.L. Green, and D.L. Spector 943
Human fos Gene I.M. Verma, J. Deschamps, C. Van Beveren, and P. Sassone-Corsi 949
Oncogenic Potential of the Human Platelet-derived Growth Factor Transcriptional Unit C.D. Rao, H. Igarashi, M. W. Pech, K.C. Robbins, and S.A. Aaronson 959
The met Oncogene: A New Member of the Tyrosine Kinase Family and a Marker for Cystic Fibrosis M. Park, M. Gonzatti-Haces, M. Dean, D. G. Blair, J.R. Testa, D.D. Bennett, T. Copeland, S. Oroszlan, and G.F. Vande Woude 967
The c-erbB-2 Gene Encodes a Receptor-like Protein with Tyrosine Kinase Activity K. Toyoshima, K. Semba, T. Akiyama, S. Ikawa, and T. Yamamoto 977
Molecular Characterization of the Human trk Oncogene D. Martin-Zanca, G. Mitra, L.K. Long, and M. Barbacid 983
Characterization of Two New Human Oncogenes C. Birchmeier, D. Young, and M. Wigler 993
Structure of the Activated c-raf-1 Gene from Human Stomach Cancer Y. Nakatsu, S. Nomoto, M. Oh-uchida, K. Shimizu, andM. Sekiguchi 1001
Gene Therapy
Human Bone Marrow Transplant
Marrow Transplantation and Gene Transfer as Therapy for Hematopoietic Dis eases E.D. Thomas 1009
Models of Gene Therapy with Viral Vectors
Transfer of Genes into Human Somatic Cells Using Retrovirus Vectors A.D. Miller, T.D. Palmer, and R.A. Hock 1013
Gene Expression from a Transcriptionally Disabled Retroviral Vector J.-K. Yee, D.J. Jolly, J. C. Moores, J.D. Respess, and T. Friedmann 1021
Retrovirus-mediated Gene Transfer of Argininosuccinate Synthetase into Cultured Ro- dent Cells and Human Citrullinemic Fibroblasts P.A. Wood, G.E. Herman, C.- Y. Chao, W.E. O'Brien, and A.L. Beaudet 1027
Expression and Function of Suppressor tRNA Genes in Mammalian Cells Y. -S. Ho, G.P. Norton, P. Palese, A.M. Dozy, and Y. W. Kan
Gaucher Disease: Retrovirus-mediated Correction of the Enzymatic Defect in Cultured Cells J. Sorge, W. Kuhl, C. West, and E. Beutler 1041
The Molecular Biology of Gaucher Disease and the Potential for Gene Therapy P. V. Choudary, S. Tsuji, B.M. Martin, B. C. Guild, R. C. Mulligan, G. J. Murray, J.A. Barranger, and E.L Ginns 1047
Efficient Expression of Foreign Genes in Mice Reconstituted with Retrovirus-infected Bone Marrow Cells G. Keller and E.F. Wagner 1053
Molecular Basis of a Human Purine Nucleoside Phosphorylase Deficiency S.R. Wil- liams, R. S. Mclvor, and D. W. Martin, Jr 1059
Gene Replacement Therapy for Inborn Errors of Purine Metabolism D.L. Nelson, S.M. W. Chang, J. Henkel-Tigges, K. Wager-Smith, J. W. Belmont, and C. T. Cas- key 1065
Gene Transfer and Expression in Nonhuman Primates Using Retroviral Vectors W. French Anderson, P. Kantoff, M. Eglitis, J. McLachlin, E. Karson, J. Zwiebel, A. Nienhuis, S. Karlsson, R.M. Blaese, D. Kohn, E. Gilboa, D. Armentano, E.D. Zanjani, A. Flake, M.R. Harrison, A. Gillio, C. Bordignon, and R. O'Reilly 1073
Genetic Engineering of Mouse and Human Stem Cells A. Bernstein, J.E. Dick, D. Huszar, I. Robson, J. Rossant, C. Magli, Z. Estrov, M. Freedman, and R.A. Phillips 1083
Targeted Modification of Human Chromosomal Genes R. G. Gregg and O. Smithies 1093
Targeting of Genes to Specific Sites in the Mammalian Genome K.R. Thomas and M.R. Capecchi 1101
Summary
A Milestone in Human Genetics C. T. Caskey 1115
Symposium Participants v
Foreword xv
Introduction
Human Genetics: The Molecular Challenge W.F. Bodmer 1
Human Gene Map
Summaries and Recent Additions
The Gene Map of Homo sapiens: Status and Prospectus V.A. McKusick 15
Construction 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 29
Construction of Human Genetic Linkage Maps: II. Methodological Issues J.-M. Lal- ouel, G.M. Lathrop, and R.. White 39
Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map E. Lander and D. Botstein 49
Human Major Histocompatibility Complex Genes: Class I Antigens and Tumor Necro- sis Factors J.L. Stromingert 63
Polymorphism 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 67
Molecular 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 75
HLA Class II RFLPs Are Haplotype-specific S. W. Serjeantson, M.R.J. Kohonen- Corish, H. Dunckley, and M.A. Reid 83
Identification of DNA Repair Genes in the Human Genome J.H.J. Hoeijmakers, M. van Duin, A. Westerveld, A. Yasui, and D. Bootsma 91
Seven 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 103
New Mapping Strategies
Approaches to Physical Mapping of the Human Genome C.L. Smith and C.R. Can tor 115
Molecular 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 123
Molecular 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 131
Flow 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 141
Cytogenetic 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 151
Construction 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 159
Flow-sorting Analysis of Normal and Abnormal Human Genomes R. V. Lebo, L.A. Anderson, Y.-F. C. Lau, R. Flandermeyer, and Y. W. Kan 169
Cloning 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 177
Reduced 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 185
Recombination along Sex Chromosomes
Genetic Recombination and Disease M. Siniscalco 191
Genetic 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 195
Molecular 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 205
Variability at the Telomeres of the Human X/Y Pseudoautosomal Region H.J. Cooke and B.A. Smith 213
The Pseudoautosomal Region of the Human Sex Chromosomes F. Rouyer, M.-C. Simmler, G. Vergnaud, C. Johnsson, J. Levilliers, C. Petit, and J. Weissenbach 221
Sex Reversal: Deletion Mapping the Male-determining Function of the Human Y Chromosome D.C. Page 229
A 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 237
Genetic and Molecular Studies on 46,XX and 45,X Males A. de la Chapelle 249
Genetic Diagnosis
Development of New Methodologies
Application of Synthetic DNA Probes to the Analysis of DNA Sequence Variants in Man R.B. Wallace, L.D. Petz, and P.Y. Yam 257
Specific Enzymatic Amplification of DNA In Vitro: The Polymerase Chain Reaction K. Mullis, F. Faloona, S. Scharf, R. Saiki, G. Horn, and H. Erlich 263
Recent Advances in the Development of Methods for Detecting Single-base Substitu- tions Associated with Human Genetic Diseases R.M. Myers and T. Maniatis 275
Searching for Gene Defects by Denaturing Gradient Gel Electrophoresis L.S. Ler- man, K. Silverstein, and E. Grinfeld 285
DNA-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 299
Applications: Cystic Fibrosis, Muscular Dystrophy, Huntington's Disease, Hemophilia A, Down's Syndrome, PKU, and Heart Disease
Molecular 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 317
Mapping 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. Chizzonite 631
Development of Mullerian Inhibiting Substance as an Anti-cancer Drug R.L. Cate, E.G. Ninfa, D. J. Pratt, D.T. MacLaughlin, and P.K. Donahoe 641
Growth Factors
Endogenous and Heterologous Expression of Transforming Growth Factor-a in Mam- malian cells R. Derynck, A. Rosenthal, P.B. Lindquist, T.S. Bringman, and D.V. Goeddel 649
Human Basic Fibroblast Growth Factor: Nucleotide Sequence, Genomic Organization, and Expression in Mammalian Cells J.A. Abraham, J.L. Whang, A. Tumolo, A. Mergia, and J. C. Fiddes 657
Human Growth Hormone: From Clone to Clinic P.H. Seeburg 669
Molecular and Biological Properties of Human Macrophage Growth Factor, CSF-l P. Ralph, M.K. Warren, M.B. Ladner, E.S. Kawasaki, A. Boosman, and T.J. White 679
Effects of N-linked Carbohydrate on the In Vivo Properties of Human GM-CSF R.E. Donahue, E.A. Wang, R.J. Kaufman, L. Foutch, A.C. Leary, J.S. Witek-Gian- netti, M. Metzger, R.M. Hewick, D.R. Steinbrink, G. Shaw, R. Kamen, and S.C. Clark 685
Erythropoietin: Gene Cloning, Protein Structure, and Biological Properties J.K. Browne, A .M. Cohen, J.C. Egrie, P.H. Lai, F.-K. Lin, T. Strickland, E. Watson, and N. Stebbing 693
Part 2
Receptors
The T4 Glycoprotein Is a Cell-surface Receptor for the AIDS Virus J.S. McDougal, P.J. Maddon, A.G. Dalgleish, P.R. Clapham, D.R. Littman, M. Godfrey, D.E. Maddon, L. Chess, R.A. Weiss, and R. Axel 703
Protein Kinases in Cellular Signal Transduction: Tyrosine Kinase Growth Factor Re- ceptors and Protein Kinase C. A. Ulirich, H. Riedel, Y. Yarden, L. Coussens, A. Gray, T. Dull, J. Schlessinger, M.D. Waterfield, and P.J. Parker 713
Protein Interactions at the Transferrin Receptor Gene Promoter W.K. Miskimins, M.P. Roberts, A. McClelland, and F.H. Ruddle 725
The Human Interleukin-2 Receptor: Role in Normal T-cell Growth and Association with HTLV-I-induced T-cell Leukemia W. C. Greene, J.M. Depper, M. Kronke, and W.J. Leonard 731
Interleukin-2 Receptor: Structure, Function, and Expression H. Kanamori, S. Kondo, M. Kinoshita, N. Suzuki, Y. Saito, H. Sabe, N. Matsunami, N. Ishida, A. Shim- izu, and T. Honjo 739
Structural and Functional Domains of the Estrogen Receptor S. Green, V. Kumar, A. Krust, P. Walter, and P. Chambon 751
Human Steroid Receptors and erbA Proto-oncogene Products: Members of a New Superfamily of Enhancer Binding Proteins C. Weinberger, V. Giguere, S. Hol- lenberg, M.G. Rosenfeld, and R.M. Evans 759
Mechanisms of Receptor-mediated Transmembrane Communication L. Ellis, D.O. Morgan, E. Clauser, M. Edery, S.-M. Jong, L.-H. Wang, R.A. Roth, and W. J. Rutter 773
Human T-cell Receptor Genes: Organization, Diversity, and Polymorphism P. Con- cannon, E. Lai, M. Klein, G. Siu, E. Strauss, L. Pickering, P. Kung, R. Gatti, andL. Hood 785
Structures and Evolution of the T-cell Antigen Receptor Genes T. W. Mak, N. Cac- cia, N. Kimura, R. Spolski, A. Iwamo to, P. Ohashi, M.D. Reis, and B. Toyonaga 797
HLA-DQ and T-cell Receptor Genes in Insulin-dependent Diabetes Mellitus M.L. Hoover, G. Angelini, E. Ball, P. Stastny, J. Marks, J. Rosenstock, P. Raskin, G.B. Ferrara, R. Tosi, and J.D. Capra 803
The LDL Receptor in Familial Hypercholesterolemia: Use of Human Mutations to Dissect a Membrane Protein D.W. Russell, M.A. Lehrman, T.C. Sudhof, T. Yamamoto, C.G. Davis, H.H. Hobbs, M.S. Brown, and J.L. Goldstein 811
Cellular and Molecular Biology of Lipoprotein Metabolism: Characterization of Li- poprotein Receptor-Ligand Interactions R. W. Mahley, T.L. Innerarity, K.H. Weisgraber, S.C. Rail, Jr., D.Y. Hui, A. Lalazar, J.K. Boyles, J.M. Taylor, and B. Levy-Wilson 821
Human Cancer Genes
Genetics of Predisposition to Cancer
Molecular Genetics of Human Familial Cancer W.K. Cavenee and M.F. Hansen 829
Mapping of Human Chromosome 11: Organization of Genes within the Wilms' Tumor Region of the Chromosome D.E. Housman, T. Glaser, D.S. Gerhard, C. Jones, G.A.P. Bruns, and W.H. Lewis 837
Molecular Genetic Analysis Reveals Chromosomal Deletion, Gene Amplification, and Autocrine Growth Factor Production in the Pathogenesis of Human Lung Cancer J.D. Minna, J.F. Battey, B.J. Brooks, F. Cuttitta, A.F. Gazdar, B.E. Johnson, D.C. Ihde, A.-M. Lebacq- Verheyden, J. Mulshine, M.M. Nau, H.K. Oie, E.A. Sausville, E. Seifter, and M. Vinocour 843
Chromosomal Mapping of Genes Involved in Growth Control U. Francke, T.L. Yang- Feng, J.E. Brissenden, and A. Ullrich 855
The Chromosome 11 Gene Map: Genes for Growth and Development, Wilms' Tumor Deletions, and Cancer Chromosome Breakpoints T.B. Shows, L.M. Davis, S. Qin, and N.J. Nowak 867
P450 Genes: Evolution, Regulation, and Relationship to Human Cancer and Pharmacogenetics F.J. Gonzalez, A.K. Jaiswal, and D. W. Nebert 879
Tumor-associated Gene Rearrangements
Molecular Genetics of Human B- and T-cell Neoplasia C.M. Croce, J. Erikson, F.G. Haluska, L.R. Finger, L. C. Showe, and Y. Tsujimoto 891
Assignment of the GM-CSF, CSF-1, and FMS Genes to Human Chromosome 5 Pro- vides Evidence for Linkage of a Family of Genes Regulating Hematopoiesis and for Their Involvement in the Deletion (Sq) in Myeloid Disorders M.M. Le Beau, M.J. Pettenati, R.S. Lemons, M.O. Diaz, C.A. Westbrook, R.A. Larson, C.J. Sherr, and J.D. Rowley 899
Oncogene Activation by Chromosomal Translocation in Chronic Myelocytic Leukemia J. Groffen, N. Heisterkamp, and K. Stain 911
Molecular Genetics of Antigen Receptors and Associated Chromosomal Abnormalities in Human Leukemias T.H. Rabbitts, R. Baer, L. Buluwela, L. Mengle-Gaw, A.M. Taylor, and P.H. Rabbitts 923
Onco genes and Cancer
The Human myc Gene Family F. W. Alt, R. DePinho, K. Zimmerman, E. Legouy, K. Hatton, P. Ferrier, A. Tesfaye, G. Yancopoulos, and P. Nisen 931
Colocalization of the myc Oncogene Protein and Small Nuclear Ribonucleoprotein Particles N.F. Sullivan, R.A. Watt, M.R. Delannoy, C.L. Green, and D.L. Spector 943
Human fos Gene I.M. Verma, J. Deschamps, C. Van Beveren, and P. Sassone-Corsi 949
Oncogenic Potential of the Human Platelet-derived Growth Factor Transcriptional Unit C.D. Rao, H. Igarashi, M. W. Pech, K.C. Robbins, and S.A. Aaronson 959
The met Oncogene: A New Member of the Tyrosine Kinase Family and a Marker for Cystic Fibrosis M. Park, M. Gonzatti-Haces, M. Dean, D. G. Blair, J.R. Testa, D.D. Bennett, T. Copeland, S. Oroszlan, and G.F. Vande Woude 967
The c-erbB-2 Gene Encodes a Receptor-like Protein with Tyrosine Kinase Activity K. Toyoshima, K. Semba, T. Akiyama, S. Ikawa, and T. Yamamoto 977
Molecular Characterization of the Human trk Oncogene D. Martin-Zanca, G. Mitra, L.K. Long, and M. Barbacid 983
Characterization of Two New Human Oncogenes C. Birchmeier, D. Young, and M. Wigler 993
Structure of the Activated c-raf-1 Gene from Human Stomach Cancer Y. Nakatsu, S. Nomoto, M. Oh-uchida, K. Shimizu, andM. Sekiguchi 1001
Gene Therapy
Human Bone Marrow Transplant
Marrow Transplantation and Gene Transfer as Therapy for Hematopoietic Dis eases E.D. Thomas 1009
Models of Gene Therapy with Viral Vectors
Transfer of Genes into Human Somatic Cells Using Retrovirus Vectors A.D. Miller, T.D. Palmer, and R.A. Hock 1013
Gene Expression from a Transcriptionally Disabled Retroviral Vector J.-K. Yee, D.J. Jolly, J. C. Moores, J.D. Respess, and T. Friedmann 1021
Retrovirus-mediated Gene Transfer of Argininosuccinate Synthetase into Cultured Ro- dent Cells and Human Citrullinemic Fibroblasts P.A. Wood, G.E. Herman, C.- Y. Chao, W.E. O'Brien, and A.L. Beaudet 1027
Expression and Function of Suppressor tRNA Genes in Mammalian Cells Y. -S. Ho, G.P. Norton, P. Palese, A.M. Dozy, and Y. W. Kan
Gaucher Disease: Retrovirus-mediated Correction of the Enzymatic Defect in Cultured Cells J. Sorge, W. Kuhl, C. West, and E. Beutler 1041
The Molecular Biology of Gaucher Disease and the Potential for Gene Therapy P. V. Choudary, S. Tsuji, B.M. Martin, B. C. Guild, R. C. Mulligan, G. J. Murray, J.A. Barranger, and E.L Ginns 1047
Efficient Expression of Foreign Genes in Mice Reconstituted with Retrovirus-infected Bone Marrow Cells G. Keller and E.F. Wagner 1053
Molecular Basis of a Human Purine Nucleoside Phosphorylase Deficiency S.R. Wil- liams, R. S. Mclvor, and D. W. Martin, Jr 1059
Gene Replacement Therapy for Inborn Errors of Purine Metabolism D.L. Nelson, S.M. W. Chang, J. Henkel-Tigges, K. Wager-Smith, J. W. Belmont, and C. T. Cas- key 1065
Gene Transfer and Expression in Nonhuman Primates Using Retroviral Vectors W. French Anderson, P. Kantoff, M. Eglitis, J. McLachlin, E. Karson, J. Zwiebel, A. Nienhuis, S. Karlsson, R.M. Blaese, D. Kohn, E. Gilboa, D. Armentano, E.D. Zanjani, A. Flake, M.R. Harrison, A. Gillio, C. Bordignon, and R. O'Reilly 1073
Genetic Engineering of Mouse and Human Stem Cells A. Bernstein, J.E. Dick, D. Huszar, I. Robson, J. Rossant, C. Magli, Z. Estrov, M. Freedman, and R.A. Phillips 1083
Targeted Modification of Human Chromosomal Genes R. G. Gregg and O. Smithies 1093
Targeting of Genes to Specific Sites in the Mammalian Genome K.R. Thomas and M.R. Capecchi 1101
Summary
A Milestone in Human Genetics C. T. Caskey 1115
Search images:
