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Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.

Abstract：

:A single base change resulting in the substitution of Cys for Arg at position 519 of the type II collagen triple helix is a predisposing factor in the pathogenesis of a precocious-onset form of familial osteoarthritis associated with a mild chondrodysplasia. Cartilage obtained at the time of total knee replacement in a patient with the Arg-Cys519 mutation was used to investigate the expression of Col2A1 alleles. Using PCR assisted amplification of mRNA with specific amplification of a region of Col2A1 message encompassing exons 31-34, followed by single strand conformation polymorphism and sequence analyses, we have found transcription products of both mutant and normal type II collagen alleles. Further analysis of the sequence of these exons provides evidence that the Arg-Cys519 mutation arose independently in at least two of the three known affected families. The presence of both mutant and normal alleles of Col2A1 in cDNA derived from cartilage obtained from this patient suggests that Cys519-containing type II collagen may continue to be produced even in advanced stages of osteoarthritis.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Holderbaum D,Malemud CJ,Moskowitz RW,Haqqi TM

doi

10.1006/bbrc.1993.1539

subject

Has Abstract

pub_date

1993-05-14 00:00:00

pages

1169-74

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(83)71539-1

journal_volume

192

pub_type

杂志文章

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