Comparative Proteomic Analysis of Normal and Collagen IX Null Mouse Cartilage Reveals Altered Extracellular Matrix Composition and Novel Components of the Collagen IX Interactome

Brachvogel, Bent; Zaucke, Frank; Dave, Keyur A.; Norris, Emma L.; Stermann, Jacek; Dayakli, Muenire; Koch, Manuel; Gorman, Jeffrey J.; Bateman, John F.; Wilson, Richard

doi:10.1074/jbc.m112.444810

Cited by 50 publications

(51 citation statements)

References 53 publications

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“…We could previously show that collagen IX ablation was associated with dramatically reduced COMP and matrilin-3 in cartilage, consistent with known interactions [9], and therefore analyzed their protein expression in mimic-and inhibitor-transfected cells. Neither protein represents a direct target of the miR-26a, but both were significantly reduced in miR-26a mimic-transfected cells (Fig.…”

Section: Resultssupporting

confidence: 52%

“…Matrilin-3 and COMP are not direct targets of the miR-26a, but collagen IX interacts with COMP and matrilin-3 to stabilize the fibrillar and extrafibrillar compartment of the cartilage [8,15,16]. Ablation of collagen IX decreased matrilin-3 and COMP [9,15,16]. Therefore, decreased collagen IX abundance in PECs after miR26a transfection could be the main reason for the significant reduction in matrilin-3 and COMP.…”

Section: Discussionmentioning

confidence: 93%

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MiR-26a modulates extracellular matrix homeostasis in cartilage

et al. 2015

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Section: Resultssupporting

confidence: 52%

Section: Discussionmentioning

confidence: 93%

MiR-26a modulates extracellular matrix homeostasis in cartilage

et al. 2015

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“…Collagen IX can combine with tissue inhibitors of matrix metalloproteinases, growth factors, and cartilage cell-surface receptors, and plays an important role in protecting articular cartilage and maintaining its internal stability (Parsons et al, 2011;Brachvogel et al, 2013). It has been reported that mutations in collagen IX genes are associated with the development of skeletal abnormalities (Posey et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…Recent study has shown that mutations in collagen IX genes can cause variation in bone marrow hypoplasia, and might be the molecular biological basis of articular cartilagerelated diseases, the risk of which previous studies have associated with COL9A1 expression (Liu et al, 2011;Brachvogel et al, 2013). Polymorphisms in this gene can alter its expression, and thus influence the function of the encoded protein.…”

Section: Introductionmentioning

confidence: 99%

Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Zhao

Wang

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Talipes equinovarus is a common congenital deformity. COL9A1 polymorphisms are associated with the development of articular cartilage-related diseases. In the current study, we evaluated the relationship between COL9A1 rs1135056, rs35470562, and rs592121 genetic polymorphisms and risk of congenital talipes equinovarus. Between January 2013 and July 2015, 87 children with congenital talipes equinovarus and 174 control subjects were recruited from the Fourth People's Hospital of Shaanxi and the First Hospital of Yulin. Genotyping of COL9A1 rs1135056, rs35470562, and rs592121 was performed using polymerase chain reaction-restriction fragment length polymorphism. Using conditional regression analysis, the AA genotype of COL9A1 rs35470562 was found to be significantly associated with increased risk of congenital talipes equinovarus compared to the GG 2 X.L. Zhao et al. Genetics and Molecular Research 15 (4): gmr15048773genotype [odds ratio (OR) = 2.60, 95% confidence interval (CI) = 1.06-6.32]. In addition, under a recessive model, rs35470562 AA carriers were observed to be at higher risk for this condition in comparison to individuals with GG or GA genotypes (OR = 2.23, 95%CI = 1.03-5.04). However, no significant relationship was established between the COL9A1 rs1135056 and rs592121 polymorphisms and congenital talipes equinovarus in any of the genetic models tested. In conclusion, our results indicate that the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined.

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“…Experimental studies have indicated significant associations between collagen type IX and spinal and articular diseases (Matsui et al, 2004;Matsui, 2006;Hyun et al, 2011). It has been reported that mice homozygous or heterozygous null for COL9A2 exhibit articular cartilage degeneration (Brachvogel et al, 2013). As yet, the role of COL9A2 polymorphisms in the development of intervertebral disc disease in the Chinese population has not been reported.…”

Section: Introductionmentioning

confidence: 95%

Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population

et al. 2016

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ABSTRACT.Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 patients and 230 healthy controls were recruited from Binzhou Medical University Hospital. Genotyping of COL9A2 Gln326Arg was carried out using polymerase chain reaction-restriction fragment length polymorphism. Univariate and multivariate logistic regression analyses revealed that the Arg/Arg genotype of COL9A2 Gln326Arg was associated with increased risk of intervertebral disc disease in comparison to the Gln/Gln genotype [crude odds ratio (OR) = 2.25, 2 T. Meng et al. Genetics and Molecular Research 15 (4): gmr1504895895% confidence interval (CI) = 1.12-4.62; adjusted OR = 2.46, 95%CI = 1.20-5.29]. Moreover, the Arg/Arg genotype correlated with an elevated risk of this disease compared to the Gln/Gln + Gln/ Arg genotypes (crude OR = 2.21, 95%CI = 1.17-4.30; adjusted OR = 2.42, 95%CI = 1.28-5.51). In conclusion, our results suggest that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population.

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Comparative Proteomic Analysis of Normal and Collagen IX Null Mouse Cartilage Reveals Altered Extracellular Matrix Composition and Novel Components of the Collagen IX Interactome

Cited by 50 publications

References 53 publications

MiR-26a modulates extracellular matrix homeostasis in cartilage

MiR-26a modulates extracellular matrix homeostasis in cartilage

Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population

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