Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.

Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Research Abstract Details 

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Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Abstract Text:

D Kurosaka,S Hattori,H Hori,N Yamaguchi,T Hasegawa,H Akimoto,Y Nagai,

Procollagen synthesized by skin fibroblasts from a patient with a lethal variant of osteogenesis imperfecta has been characterized. After pepsin digestion of the type I procollagen, a portion of the alpha 1(I) chains was recovered as a disulfide-bonded dimer. Cyanogen bromide peptide mapping suggested that a new cysteine residue was present in the alpha 1(I)CB6 fragment. Sequencing of cloned cDNAs prepared using mRNA from the proband's fibroblasts demonstrated that some of the clones contained a single base mutation that converted the glycine codon in amino acid position 946 of the alpha 1(I) chain to a cysteine codon. The thermal stability of the molecules was markedly lower than that in the case of the normal control.

Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Publishing Authors By Initials

D Kurosaka,S Hattori,H Hori,N Yamaguchi,T Hasegawa,H Akimoto,Y Nagai,

For similar nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, messenger research abstracts see: nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, messenger research

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Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of biochemistry

VOLUME: 115

Page Numbers: 853-7

Journal Abbreviation: J. Biochem.

ISSN: 0021-924X

DAY: 19

MONTH: May

YEAR: 1994

Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Information

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LANGUAGE: eng

NlmUniqueID: 376600

Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Keywords Mesh Terms:

KEYWORDS: RNA, Messenger

MESH TERMS: genetics

Chemical & Substance for Abstract: Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. Information

Substance Name: Glycine

Registry Number: 56-40-6

Grant and Affiliation Information for Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.

AFFILIATION: Department of Tissue Physiology, Tokyo Medical and Dental University.

Country: JAPAN

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MEDLINETA: J Biochem

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