A single base mutation in type I procollagen (COL1A1) that converts glycine α1-541 to aspartate in a lethal variant of osteogenesis imperfecta: Detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR
dc.contributor.author | Zhuang, J. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Ganguly, A. | en |
dc.contributor.author | Prockop, D. J. | en |
dc.creator | Zhuang, J. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Ganguly, A. | en |
dc.creator | Prockop, D. J. | en |
dc.date.accessioned | 2019-11-04T12:52:55Z | |
dc.date.available | 2019-11-04T12:52:55Z | |
dc.date.issued | 1991 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53465 | |
dc.description.abstract | Skin fibroblasts from a proband with a lethal variant of osteogenesis imperfecta synthesized both apparently normal type I procollagen and a type I procollagen that had slow electrophoretic mobility because of posttranslational overmodifications. The thermal unfolding of the collagen molecules as assayed by protease digestion was about 2°C lower than normal. It is surprising, however, that collagenase A and B fragments showed an essentially normal melting profile. Assay of cDNA heteroduplexes with a new technique involving carbodiimide modification indicated a mutation at about the codon for amino acid 550 of the α1(I) chain. Subsequent amplification of the cDNA by the PCR and nucleotide sequencing revealed a single-base mutation that substituted an aspartate codon for glycine at position α1-541 in the COL1A1 gene. The results here confirm previous indications that the effects of glycine substitutions in type I procollagen are highly position specific. They also demonstrate that a recently described technique for detecting single-base differences by carbodiimide modification of DNA heteroduplexes can be effectively employed to locate mutations in large genes. | en |
dc.source | American Journal of Human Genetics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0025906538&partnerID=40&md5=dfed0b78bb3af0847aaff278903b8a27 | |
dc.subject | article | en |
dc.subject | Adult | en |
dc.subject | Male | en |
dc.subject | human | en |
dc.subject | female | en |
dc.subject | priority journal | en |
dc.subject | amino acid sequence | en |
dc.subject | case report | en |
dc.subject | newborn | en |
dc.subject | human cell | en |
dc.subject | Base Sequence | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | polymerase chain reaction | en |
dc.subject | mutation | en |
dc.subject | nucleotide sequence | en |
dc.subject | Support, Non-U.S. Gov't | en |
dc.subject | amino acid substitution | en |
dc.subject | aspartic acid | en |
dc.subject | Genes, Lethal | en |
dc.subject | Infant, Newborn | en |
dc.subject | osteogenesis imperfecta | en |
dc.subject | procollagen | en |
dc.subject | Support, U.S. Gov't, P.H.S. | en |
dc.subject | Fetal Death | en |
dc.subject | glycine | en |
dc.subject | Cells, Cultured | en |
dc.subject | Nucleic Acid Hybridization | en |
dc.subject | oligonucleotide | en |
dc.subject | Nucleic Acid Heteroduplexes | en |
dc.subject | Carbodiimides | en |
dc.subject | Infant, Premature | en |
dc.subject | lethal gene | en |
dc.title | A single base mutation in type I procollagen (COL1A1) that converts glycine α1-541 to aspartate in a lethal variant of osteogenesis imperfecta: Detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR | en |
dc.type | info:eu-repo/semantics/article | |
dc.description.volume | 48 | |
dc.description.startingpage | 1186 | |
dc.description.endingpage | 1191 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :9</p> | en |
dc.source.abbreviation | Am.J.Hum.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 |
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