PMID: 3383844Jun 1, 1988Paper

Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome

European Journal of Biochemistry
Ryu-Ichiro HataH Shinkai

Abstract

Collagen synthesis was examined in skin fibroblasts from a patient with a variant of Ehlers-Danlos syndrome. The relative rate of collagen synthesis to total protein synthesis in the patient's fibroblasts was always one-half of that in fibroblasts from normal controls. Total collagen synthesis, as assessed by quantification of total hydroxyproline, was also significantly lower than that of controls, indicating that the rate of collagen synthesis by the patient's fibroblasts was decreased compared with that by normal fibroblasts. Analysis of procollagen and collagen components showed the absence of the pro alpha 2(I) chain and its derivatives. Dot-blot and Northern-blot analyses showed the patient's fibroblasts to contain less than 10% of the mRNAs for pro alpha 2(I) found in control fibroblasts. In spite of these results, Southern blot analysis of genomic DNA indicated the presence of the same number of genes for the pro alpha 2(I) collagen chain in the patient's fibroblasts as in control fibroblasts, suggesting malfunctioning pro alpha 2(I) collagen genes as the cause for failure of the patient's fibroblasts to synthesize pro alpha 2(I) collagen chains.

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Citations

Jan 1, 1992·Journal of Clinical Laboratory Analysis·S YamadaP K Nakane
Jul 7, 2009·Archives of Dermatological Research·Hiromi NamikawaAtsushi Hatamochi
Nov 15, 2000·Clinical Genetics·P H Byers
Aug 16, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Richard J WenstrupClaire A Francomano
May 1, 1997·Journal of Medical Genetics·F M Pope, N P Burrows
Dec 17, 2015·Internal Medicine·Hiroaki NakagawaYasutaka Nakano
Mar 11, 2008·Best Practice & Research. Clinical Rheumatology·Bert CallewaertAnne De Paepe
Sep 30, 2016·Archives of Dermatological Research·Yumi OzawaAtsushi Hatamochi
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
May 8, 1999·Clinical and Experimental Dermatology·N P Burrows
Oct 8, 2008·Journal of Separation Science·Statis PataridisIvan Miksík
Jun 4, 2010·The British Journal of Dermatology·Y ShimaokaA Hatamochi
Mar 2, 2019·American Journal of Medical Genetics. Part a·Vito GuarnieriMarco Castori
Jan 19, 2006·Rheumatology·F MalfaitR Grahame
Jan 22, 2002·The American Journal of Dermatopathology·T Hermanns-Lê, G E Piérard
Jul 7, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Cortney GensemerRussell A Norris
Mar 25, 2018·Calcified Tissue International·Alice CostantiniOuti Mäkitie
Jun 5, 2001·Journal of Vascular Surgery·A G VouyoukaC L Phillips
Jun 1, 1996·The Journal of Investigative Dermatology·N P BurrowsF M Pope
Aug 30, 2008·Journal of Molecular Biology·Sejin HanSergey Leikin

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