Ehlers-Danlos Syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
Journal Article
·
· J. Biol. Chem.; (United States)
OSTI ID:6771100
The authors have studied a patient with severe, dominantly inherited Ehlers-Danlos syndrome type IV. The results indicate that this patient carries a deletion of 3.3 kilobase pairs in the triple helical coding domain of one of the two alleles for the pro-..cap alpha..-chains of type III collagen (COL3A1). His cultured skin fibroblasts contain equal amounts of normal length mRNA and of mRNA shortened by approximately 600 bases, and synthesize both normal and shortened pro-..cap alpha..1(III)-chains. In procollagen molecules containing one or more shortened chains, a triple helix is formed with a length of only about 780 amino acids. The mutant procollagen molecules have decreased thermal stability, are less efficiently secreted, and are not processed as their normal counterpart. The deletion in this family is the first mutation to be described in COL3A1.
- Research Organization:
- Univ. of Zurich (Switzerland)
- OSTI ID:
- 6771100
- Journal Information:
- J. Biol. Chem.; (United States), Journal Name: J. Biol. Chem.; (United States) Vol. 263:13; ISSN JBCHA
- Country of Publication:
- United States
- Language:
- English
Similar Records
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Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia
Journal Article
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Tue Sep 01 00:00:00 EDT 1992
· American Journal of Human Genetics; (United States)
·
OSTI ID:5017203
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3Al) allele produces ehlers-danlos syndrome type IV in the heterozygous offspring
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Thu Jul 01 00:00:00 EDT 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:5914908
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Journal Article
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Sun Sep 01 00:00:00 EDT 1991
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:5823122
Related Subjects
550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINES
AMINO ACIDS
ANIMAL CELLS
AUTORADIOGRAPHY
AZOLES
BODY
CARBOXYLIC ACIDS
CELL CULTURES
CHROMATOGRAPHY
COLLAGEN
CONNECTIVE TISSUE CELLS
DISEASES
ELECTROPHORESIS
FIBROBLASTS
GENE MUTATIONS
GLYCINE
HEREDITARY DISEASES
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HYBRIDIZATION
LABELLED COMPOUNDS
MOLECULAR BIOLOGY
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANS
PATIENTS
PROLINE
PROTEINS
PYRROLES
PYRROLIDINES
RADIOCHROMATOGRAPHY
SCLEROPROTEINS
SEPARATION PROCESSES
SKIN
SOMATIC CELLS
TRITIUM COMPOUNDS
TWO-DIMENSIONAL ELECTROPHORESIS
59 BASIC BIOLOGICAL SCIENCES
AMINES
AMINO ACIDS
ANIMAL CELLS
AUTORADIOGRAPHY
AZOLES
BODY
CARBOXYLIC ACIDS
CELL CULTURES
CHROMATOGRAPHY
COLLAGEN
CONNECTIVE TISSUE CELLS
DISEASES
ELECTROPHORESIS
FIBROBLASTS
GENE MUTATIONS
GLYCINE
HEREDITARY DISEASES
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HYBRIDIZATION
LABELLED COMPOUNDS
MOLECULAR BIOLOGY
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANS
PATIENTS
PROLINE
PROTEINS
PYRROLES
PYRROLIDINES
RADIOCHROMATOGRAPHY
SCLEROPROTEINS
SEPARATION PROCESSES
SKIN
SOMATIC CELLS
TRITIUM COMPOUNDS
TWO-DIMENSIONAL ELECTROPHORESIS