Cold Spring Harbor Symposia on Quantitative Biology
LI: Molecular Biology of Homo sapiens
1986
CSHL Digital Photo Archives
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








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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






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