Proc Natl Acad Sci U S A. 1990 Sep;87(17):6565-8.

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ.

Source

Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107-6799.

Abstract

A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of the family had evidence of a mild chondrodysplasia, but they developed progressive osteoarthritic changes in many joints that had no epiphyseal deformities. The clone contained 52 of the 54 exons of the gene. Nucleotide sequencing of greater than 20,000 base pairs from the clone demonstrated that all the coding sequences and all the intron-exon boundaries were normal except for a single base mutation that converted the codon for arginine at position 519 of the alpha 1(II) chain to a codon for cysteine, an amino acid not found in type II collagen from humans or a variety of other species. The mutation was found in all affected members of the family but not in unaffected members or in 57 unrelated individuals.

PMID:: 1975693; [PubMed - indexed for MEDLINE]
PMCID:: PMC54577

Free PMC Article

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Libraries

LinkOut Holdings

Supplemental Content

Save items

Related citations in PubMed

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). [Hum Genet. 1993]
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ. Hum Genet. 1993 Nov; 92(5):499-505.
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. [J Rheumatol. 1995]
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, Menkes CJ. J Rheumatol. 1995 Feb; 22(2):255-61.
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). [Proc Natl Acad Sci U S A. 1991]
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ. Proc Natl Acad Sci U S A. 1991 Aug 1; 88(15):6624-7.
Review A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. [Am J Hum Genet. 1993]
Review A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ. Am J Hum Genet. 1993 Jan; 52(1):39-45.
Review Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). [Arthritis Rheum. 2004]
Review Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Löppönen T, Körkkö J, Lundan T, Seppänen U, Ignatius J, Kääriäinen H. Arthritis Rheum. 2004 Dec 15; 51(6):925-32.

See reviews... See all...

Cited by 46 PubMed Central articles

Non-pharmacological care for patients with generalized osteoarthritis: design of a randomized clinical trial. [BMC Musculoskelet Disord. 2010]
Non-pharmacological care for patients with generalized osteoarthritis: design of a randomized clinical trial.
Hoogeboom TJ, Stukstette MJ, de Bie RA, Cornelissen J, den Broeder AA, van den Ende CH. BMC Musculoskelet Disord. 2010 Jul 1; 11:142. Epub 2010 Jul 1.
UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton. [Dev Biol. 2010]
UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton.
Eames BF, Singer A, Smith GA, Wood ZA, Yan YL, He X, Polizzi SJ, Catchen JM, Rodriguez-Mari A, Linbo T, et al. Dev Biol. 2010 May 15; 341(2):400-15. Epub 2010 Mar 11.
Yet more evidence that osteoarthritis is not a cartilage disease. [Ann Rheum Dis. 2006]
Yet more evidence that osteoarthritis is not a cartilage disease.
Brandt KD, Radin EL, Dieppe PA, van de Putte L. Ann Rheum Dis. 2006 Oct; 65(10):1261-4.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Single base mutation in the type II procollagen gene (COL2A1) as a cause of prim...
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
Proc Natl Acad Sci U S A. 1990 Sep ;87(17):6565-8.

PubMed
Risk factors for onset of osteoarthritis of the knee in older adults: a systemat...
Risk factors for onset of osteoarthritis of the knee in older adults: a systematic review and meta-analysis.
Osteoarthritis Cartilage. 2010 Jan ;18(1):24-33. Epub 2009 Sep 2 .

PubMed
A prospective nationwide cross-sectional study of NSAID usage in 1331 patients w...
A prospective nationwide cross-sectional study of NSAID usage in 1331 patients with ankylosing spondylitis.
J Rheumatol. 1990 Jun ;17(6):801-3.

PubMed
Plasma concentrations of growth arrest-specific protein 6 and protein S in patie...
Plasma concentrations of growth arrest-specific protein 6 and protein S in patients with acute pancreatitis.
J Gastroenterol Hepatol. 2009 Sep ;24(9):1567-73.

PubMed
Adhesion receptors of the immune system.
Adhesion receptors of the immune system.
Nature. 1990 Aug 2 ;346(6283):425-34.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Libraries

Supplemental Content

Save items

Related citations in PubMed

Cited by 46 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information