EurekaMag
+ Translate
+ Most Popular
The pigeon tick (Argas reflexus): its biology, ecology, and epidemiological aspects
Prevalence of hemoglobin abnormalities in Kebili (Tunisian South)
Lipogranuloma: a preventable complication of dacryocystorhinostomy
Value of basal plasma cortisol assays in the assessment of pituitary-adrenal insufficiency
Bees from the Belgian Congo. The acraensis group of Anthophora
Placing gingival retraction cord
Total serum IgE, allergy skin testing, and the radioallergosorbent test for the diagnosis of allergy in asthmatic children
Acariens plumicoles Analgesoidea parasites des oiseaux du Maroc
Injuries of terminal phalanges of the fingers in children
Biology of flowering and nectar production in pear (Pyrus communis)
Das Reliktvorkommen der Aspisviper (Vipera aspis L.) im Schwarzwald
Hydrological modelling of drained blanket peatland
Pathologic morphology and clinical significance of the anomalous origin of the left circumflex coronary artery from the right coronary artery. General review and autopsy analysis of 30 cases
Cyto genetic analyses of lymphocyte cultures after exposure to calcium cyclamate
Axelrodia riesei, a new characoid fish from Upper Rio Meta in Colombia With remarks concerning the genus Axelrodia and description of a similar, sympatric, Hyphessobrycon-species
Favorable evolution of a case of tuberculosis of pancreas under antibiotic action
RIFM fragrance ingredient safety assessment, Valencene, CAS Registry Number 4630-07-3
Parenteral microemulsions: an overview
Temperate pasture: management for grazing and conservation
Evaluation of a new coprocessed compound based on lactose and maize starch for tablet formulation
Thermal expansion and cracking of three confined water-saturated igneous rocks to 800C
Revision of the genera of the tribe Stigmoderini (Coleoptera: Buprestidae) a discussion of phylogenetic relationships
Anal tuberculosis. Report of a case
Gastric tuberculosis in the past and present
Adaptive responses of the cardiovascular system to prolonged spaceflight conditions: assessment with Holter monitoring

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta


Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta



Human Genetics 91(3): 210-216



ISSN/ISBN: 0340-6717

PMID: 7916744

DOI: 10.1007/bf00218258

Skin fibroblasts from a proband with mild osteogenesis imperfecta (type I) synthesized normal pro alpha 2(I) chains and shortened pro alpha 2(I) chains of type-I procollagen. The type-I collagen that contained the shortened alpha 2(I) chains was thermally unstable in that it was cleaved at 30 degrees C by a mixture of trypsin and chymotrypsin. The mutation generating the shortened pro alpha 2(I) chains was shown to be a deletion of 19 base pairs from +4 to +22 of intron 13 of the COL1A2 gene by sequencing of genomic DNA and allele-specific oligonucleotide hybridization. The same mutation was found in the proband's affected father. Probe-protection experiments with S1 nuclease demonstrated that about 88% of the RNA transcripts from the mutated allele were spliced by exon skipping from exon 12 to exon 14 and that about 12% of the RNA transcripts were normally spliced. There was no evidence for use of cryptic splice sites, even though two cryptic splice sites had more favorable statistical scores and delta G degree 37 values than the new site that was created by the mutation and that was used for splicing of 12% of the transcripts into a normal mRNA. Comparison of the results with observations on 17 previously reported mutations that produced in-frame deletions of amino acids from the triple-helical domain of type-I collagen indicated that deletions in the N-terminal half of the alpha 2(I) chain tended to produce milder phenotypes than similar deletions elsewhere in the alpha 1(I) or alpha 2(I) chains.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 045720199

Download citation: RISBibTeXText

Related references

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother. Journal of Biological Chemistry 263(23): 11407-11413, 1988

A 19-base pair deletion in the pro-a2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother. The Journal of Biological Chemistry 263: 407-13, 1988

A 19-base pair deletion in the Pro-α2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother. The Journal of Biological Chemistry 263(23): 11407-11413, 1988

A single base mutation in the pro alpha 2i gene of type i procollagen that causes in frame rna splicing from exon 5 to exon 7 in a proband with ehlers danlos syndrome type viib. Matrix 10(4): 250, 1990

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. Journal of Clinical Investigation 83(2): 574-584, 1989

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. Biochemical Journal 279: 747-752, 1991

Expression of the human type ii procollagen gene in mouse nih 3t3 cells by use of a vector containing the promoter region the first exon and the first intron of the pro alpha 1i chain for human type i procollagen. Matrix 10(4): 234, 1990

Heterozygous defect that deletes the codons of exon 13 from the messenger rna of the alpha 2 chain of type i procollagen in a patient with mild osteogenesis imperfecta. Matrix 10(4): 252, 1990

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Human Mutation 7(3): 219-227, 1996

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1). American Journal of Human Genetics 47(4): 670-679, 1990

Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research 7(7): 793-805, 1992

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proceedings of the National Academy of Sciences of the United States of America 82(9): 2870-2874, 1985

Somatic cell mosaicism for a mutation in type i procollagen the asymptomatic mother of a proband with lethal osteogenesis imperfecta is a mosaic for a single base mutation that substitutes cysteine for alpha 1 glycine 904. American Journal of Human Genetics 45(4 Suppl): A181, 1989

Substitution of cysteine for glycine alpha 1 691 in the proalpha 1i chain of type i procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site carboxyl terminal to the substitution. Biochemical Journal 279(3): 747-752, 1991

A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase. Journal of Biological Chemistry 267(35): 25529-25534, 1992