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Dystrophin, 1989


Scope and Contents

Research on Duchenne muscular dystrophy DMD has moved rapidly from analysis of DNA to studies of the function of the protein, named dystrophin, in muscle, brain, and other tissues.This Dystrophin meeting drew together research workers from all over the world to discuss, and in some cases to attempt to reconcile, the latest results. It is a remarkable comment on the rapid progress made possible by recombinant DNA techniques that a session could be devoted to discussing therapeutic strategies for affected boys.


  • Creation: 1989


Conditions Governing Access

Tapes have been digitized and are available for research in person at CSHL Archives.


12 Cassettes : Tape 1 Side 1 [00:45:54] Tape 1 Side 2 [00:45:55]; Tape 2 Side 1 [00:45:31] Tape 2 Side 2 [00:45:31]; Tape 3 Side 1 [00:45:23] Tape 3 Side 2 [00:45:23]; Tape 4 Side 1 [00:47:27] Tape 4 Side 2 [00:47:30]; Tape 5 Side 1 [00:45:20] Tape 5 Side 2 [00:45:20]; Tape 6 Side 1 [01:00:05] Tape 6 Side 2 [01:00:09]; Tape 7 Side 1 [00:59:56] Tape 7 Side 2 [00:59:55]; Tape 8 Side 1 [00:46:21] Tape 8 Side 2 [Does Not Exist]; Tape 9 Side 1 [01:01:06] Tape 9 Side 2 [01:01:05]; Tape 10 Side 1 [00:47:08] Tape 10 Side 2 [00:35:59]; Tape 11 Side 1 [00:47:14] Tape 11 Side 2 [00:47:14]; Tape 12 Side 1 [01:01:13] Tape 12 Side 2 [01:01:18]

Language of Materials

From the Collection: English

Session 1: The Human Dystrophin Gene - Putting Together a Physical Map

Review of Physical Map / Gert-Jan B. van Ommen

Delections in the Central and 3'end of the Dystrophin Gene: Genotype and Phenotype / Kay E. Davies

Characterization of Dystrophin Deletions by cDNA Studies and Long-Range Mapping / Uta Francke

Filling out the Map / Richard Bartlett, Arthur Burghes, Jeff Chamberlain, Michael Koenig, Astrid Speer, and other participants with relevant data

Session 2: Transcriptional Regulation and Expression

The Transcripts of the Dystophin Geen / Jean-Claude Kaplan

Expression and Promoter Studies in Rodent Myogenic Cells / Uri Nudel

The Human Gene Promoter and Expression in Myogenic Cells / Henry Klamut

Discussion: Transcription and Alternative Splicing

The Cell Biology of Dystophin / Helen Blau

Studies of DMD Gene Expression In Vitro / Robert Brown

Discussion: In Vitro Expression

Session 3: Dystrophin Structure and Function

Localization of Dystrophin in Specialized Regions of the Muscle Fibre / Eduardo Bonilla

Site Specific Antibodies to Dystrophin and Localization to Membrane Vesicles / E. Zibrzycka-Gaam

Immunohistochemical Study of Dystrophin in DMD and BMD / Kiichi Arahata

Ultrastructural Localization of Dystrophin in Human Muscle by Gold Labeling / Michael Cullen

Light and Immuno-electron Microscopic Localization of Dystrophin / Simon Watkins

Discussion: Localization of Dystrophin

Dystrophin Localization in Embryonic, Fetal and Adult Mouse / Gert-Jan B. van Ommen

Purification of Dystrophin from Rabbit Muscle Membranes / Kevin Campbell

Relationship of Dystrophin to a- and B- Spectrins / Timothy Byers

Dystrophin Structure and Possible Function / Michel Koenig


Session 4: Cytoskeletal Proteins- Structure and Function

Proteins of the Spectrin-based Membrane Skeleton / Vann Bennett

Control of Assembly of the Membrane Skeleton / Elias Lazarides

Cytoskeletal Proteins Linking Actin to the Membrane in Cell Matrix Junctions / David Critchley

Organization Principles and Anchorage Functions / Spyros Georgatos

Muscle CostameresL Transmembrane Linkage Between Extracellular Matrix, Sarcolemma and Myofiber Bundles / Susan Craig

Discussion: Dystrophin as a Member of Group of Cytoskeletal Proteins

Session 5: Mutational Spectrum and Clinical Correlates

The Clinical Spectrum of Defects in the Dystrophin Gene / Kenneth Fischbeck

Correlation of Genotype and Phenotype at the 5' End of the Gene / Arthur Burghes

Deletion and Duplications of Exons in DMD and BMD: More on the Fram-shift Idea / Ron Worton

The Fram-shift Hypothesis: Correlation of Mutation Type with Phenotype / Michel Koenig

PCR Technology for Rapid Deletion Analysis / Jeff Chamberlain

DNA and Dystrophin Studies in Brazilian Families / Mayana Zatz

Dystrophin Quality and Quantity in DMD and BMD / Eric Hoffman

Discussion: What Correlates can we Make and Where Does Daignosis Go From Here?

Session 6: Animal Models and Disease

Dystrophin Expression in Mosaic Muscle Fibers of Carrier mdx Females and Transplanted mdx Males / George Karpati

Relationship Between Morphology and Content of Introduced Dystrophin in Muscle of the mdx Mouse / Terry Partridge

The Dystrophin Gene and Protein in Chicken / J. Mandel

Expression of Dystrophin in the grmd Dog / Barry Cooper

Studies of the Golden Retriever Muscular Dystrophy / Richard Bartlett

Eric Hoffman

Discussion: What Do These Animal Models Contribute to Understanding the Human Disease?

Session 7: What Does the Future Hold?

The Future of Myoblast Transplantation- The Minimum Requirement Before Consideration of Clinical Trials / Terry Partridge

Speculation on the Function of Dystrophin and Approaches to Correction of the Defect / Louis Kunkel

Where Do We Go From Here? What is MDA's Current Response to the "Big" Question- How Soon Will We Have A Cure? / Donald Wood


Repository Details

Part of the Cold Spring Harbor Laboratory Archives Repository

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