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The Molecular Genetics and Cell Biology of Marfan Syndrome, 1991-04-19 - 1991-04-21

 File

Scope and Contents

Marfan Syndrome is a disorder of connective tissue, and the patients are also remarkably tall and thin (Abraham Lincoln is thought by some to have had Marfan Sydrome). Scientsts have been mapping the chromosomal location of the gene involved and cloning DNA from that location, in addtion to studying proteins known to be important for connective tissue function. Two lines of research came together at this spring meeting when it was found that both the gene mappers and the candidate protein researchers had cloned the same gene: the gene for a connective tissue protein called fibrillin. This was the first occasion on which the two groups had come together to discuss these findings, and their discussions hastened the publication of several papers in "Nature" reporting this work. The meeting was funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Dates

  • Creation: 1991-04-19 - 1991-04-21

Creator

Conditions Governing Access

Tapes have been digitized and are available for research in person at CSHL Archives. Tapes were digitized with the support of the Recordings at Risk grant from the Council on Library and Information Resources.

Extent

8 Cassettes : Tape 1 Side 1 [00:47:26] Tape 1 Side 2 [00:40:47]; Tape 2 Side 1 [00:47:02] Tape 2 Side 2 [00:47:11]; Tape 3 Side 1 [00:47:12] Tape 3 Side 2 [00:46:29]; Tape 4 Side 1 [00:47:04] Tape 4 Side 2 [00:47:05]; Tape 5 Side 1 [00:47:05] Tape 5 Side 2 [00:47:05]; Tape 6 Side 1 [00:47:06] Tape 6 Side 2 [00:47:06]; Tape 7 Side 1 [00:47:07] Tape 7 Side 2 [00:46:18]; Tape 8 Side 1 [00:13:44] Tape 8 Side 2 [Does Not Exist]

Language of Materials

From the Collection: English

Additional Description

Session 1: Phenotype and Heterogeneity

The MFS and Related Disorders: History and Nosology / Reed E. Pyeritz

Phenotype and Clinical Complications of the MFS: The Need for Definitive (genetic_ and Intermediate (non-genetic) Therapies / Richard B. Devereux

Discussion

Session 2: Linkage Studies

Location of the MFS Locus and Heterogeneity Analysis with Markers of 15q / Leena Peltonen

The Linkage Map of 15q Markers / Monsoor Sarfarazi

Linkage Relationships Between the MFS Locus and Chromosome 15 Markers / Harry C. Dietz

The Fine Mapping of the Region Surrounding the MFS Locus on Chromosome 15 / Petros Tsipouras

Localization of a Gene for MFS by Linkage Analysis with Chromosome 15 Markers / Michael W. Kilpatrick

Discussion of Linkage and Hetereogeneity

Session 3: Elastic Tissue Microfibrils and Fibrillin

Structural Studies on Fibrillin and Microfibrils Assembly / Robert W. Glanville

Biochemical Charcterization of Fibrillin / Lynn Y. Sakai

Cloning and Sequence Analysis of Fibrillin cDNA / Cheryl Maslen

Chromosome Localization of the Fibrillin Gene / Ellen Magenis

Immunohistochemical Analyses of Microfibrils in MFD and Other Pathological Conditions / Maurice Godfrey

Defective Synthesis, Secretion and Extracellular Matrix Formation of Fibrillin by Cultured Dermal Fibroblasts / Dianna McGookey

Bovine Model for MPS / Kathleen Potter

Discussion: Fibrillin Gene Defects in MFS

Session 4: Other Elastic Fiber Genes

Catalyst of Elastic Fiber / Robert P. Mecham

Molecular Cloning of Elastic Fiber Genes / Joel Rosenbloom

A Candidate Gene Approach Toward Characaterizing the Molecular Lesions in MFS / Brendan Lee

Discussion

Session 5: Summary and Strategies for Future Research

Discussion

The Role of NMF / Priscilla Ciccariello

Repository Details

Repository Details

Part of the Cold Spring Harbor Laboratory Archives Repository

https://www.cshl.edu/archives/
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