Partial sequence of a candidate gene for the Marfan syndrome

Cheryl Maslen, Glen M. Corson, B. Kerry Maddox, Robert W. Glanville, Lynn Sakai

Research output: Contribution to journalArticle

259 Citations (Scopus)

Abstract

FIBRILLIN is a large (relative molecular mass 350,000) glyco-protein which can be isolated from fibroblast cell cultures and is a component of the microfibrils that are ubiquitous in the connective tissue space1. The microfibrils of the suspensory ligament of the lens as well as the elastic fibre microfibrils of the blood vessel wall are composed of fibrillin. The ocular and cardiovascular manifestations of the Marfan syndrome are consistent with a defect in the gene coding for a structural constituent of these connective tissues. Immunohistological experiments have recently implicated fibrillin microfibrils in the pathogenesis of the Marfan syndrome2. Genetic linkage data3'4 localizing the Marfan gene to chromosome 15 and the in situ hybridization of fibrillin complementary DNA to 15q21.1 (ref. 5) together support fibrillin as a candidate Marfan gene. As a first step towards investigating the function of fibrillin in the architecture and development of connective tissues and its relationship to the Marfan syndrome, we report the cloning and partial sequencing of fibrillin cDNA.

Original languageEnglish (US)
Pages (from-to)334-337
Number of pages4
JournalNature
Volume352
Issue number6333
StatePublished - Jul 25 1991

Fingerprint

Marfan Syndrome
Microfibrils
Connective Tissue
Genes
Eye Manifestations
Complementary DNA
Chromosomes, Human, Pair 15
Genetic Linkage
Elastic Tissue
Ligaments
Lenses
In Situ Hybridization
Blood Vessels
Fibrillins
Organism Cloning
Cell Culture Techniques
Fibroblasts
Proteins

ASJC Scopus subject areas

  • General

Cite this

Maslen, C., Corson, G. M., Maddox, B. K., Glanville, R. W., & Sakai, L. (1991). Partial sequence of a candidate gene for the Marfan syndrome. Nature, 352(6333), 334-337.

Partial sequence of a candidate gene for the Marfan syndrome. / Maslen, Cheryl; Corson, Glen M.; Maddox, B. Kerry; Glanville, Robert W.; Sakai, Lynn.

In: Nature, Vol. 352, No. 6333, 25.07.1991, p. 334-337.

Research output: Contribution to journalArticle

Maslen, C, Corson, GM, Maddox, BK, Glanville, RW & Sakai, L 1991, 'Partial sequence of a candidate gene for the Marfan syndrome', Nature, vol. 352, no. 6333, pp. 334-337.
Maslen C, Corson GM, Maddox BK, Glanville RW, Sakai L. Partial sequence of a candidate gene for the Marfan syndrome. Nature. 1991 Jul 25;352(6333):334-337.
Maslen, Cheryl ; Corson, Glen M. ; Maddox, B. Kerry ; Glanville, Robert W. ; Sakai, Lynn. / Partial sequence of a candidate gene for the Marfan syndrome. In: Nature. 1991 ; Vol. 352, No. 6333. pp. 334-337.
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