Matrilin-3 in human articular cartilage: increased expression in osteoarthritis

Pullig, Oliver; Weseloh, G.; Klatt, Andreas R.; Wagener, Raimund; Swoboda, B.

doi:10.1053/joca.2001.0508

Cited by 68 publications

(68 citation statements)

References 32 publications

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“…In tumors, high MATN3 content was accompanied by cellular localization, and in several tumors, MATN3 was even strictly intracellular ( Figure 2). In addition, in human osteoarthritis, increased MATN3 was found to be accompanied by focally intracellular retention (9). In transfected PHCs (Figure 5B), the overexpression of MATN3 was sufficient to cause its intracellular retention.…”

Section: Discussionmentioning

confidence: 86%

“…It is not clear how this mutation may contribute to the development of osteoarthritis. However, the role of MATN3 in attempted reparation of cartilage was highlighted in a study in which severe osteoarthritis was accompanied by an up to 25-fold induction of MATN3 transcription and increased MATN3 accumulation in the extracellular matrix (9).…”

Section: Discussionmentioning

confidence: 99%

“…MATN3 also acts in the induction of SOX9 and the mechanical stimulation of chondrocytes (9,10,31). Chondrocytes of MATN3-knockout mice have been found to undergo premature hypertrophy, a process that is inhibited by the activities of SOX9 (10,11), and indeed these mice exhibit decreased levels of SOX9 mRNA in cartilage, suggesting that functioning of MATN3 is required for optimal SOX9 expression.…”

Section: Discussionmentioning

confidence: 99%

“…In tumors that exhibited consistently elevated levels of MATN3, however, tissue localization ranged from mainly matrix-associated sites with obvious cellular staining ( Figure 2C) to almost strictly cellular sites ( Figure 2D). In addition, extracellular MATN3 was disseminated throughout the whole matrix, as opposed to its pericellular distribution in articular cartilage (9). The localization of MATN3 in tumors exhibiting cellular staining ( Figure 2D) appeared heterogeneous throughout cytoplasms.…”

Section: Localization Of Matn3 In Cartilaginous Tumorsmentioning

confidence: 97%

“…Several MATN3 mutations are involved in multiple epiphyseal dysplasia (MED) (6,7), and another mutation of MATN3 is statistically significantly associated with hand osteoarthritis (8). Furthermore, osteoarthritis in humans is accompanied by increased MATN3 accumulation in the extracellular matrix (9). A functional knockout of the MATN3 gene in mice was found to result in osteoarthritis (10), although another, independent construct did not exhibit any significant phenotype (11).…”

mentioning

confidence: 99%

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Increased expression of matrilin‐3 not only in osteoarthritic articular cartilage but also in cartilage‐forming tumors, and down‐regulation of SOX9 via epidermal growth factor domain 1–dependent signaling

Vincourt¹,

Vignaud²,

Lionneton³

et al. 2008

Arthritis & Rheumatism

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Conclusion. Aberrant expression and processing of MATN3 are hallmarks of conventional cartilaginous neoplasms. A particular step in the maturation of MATN3 limits its processing through the secretion machinery, resulting in its intracellular accumulation upon increased expression. Soluble, secreted MATN3, however, down-regulates SOX9 at the messenger RNA and protein levels. The first EGF-like domain of MATN3 is a critical determinant of its regulatory activity toward SOX9. These activities of MATN3 suggest that its increased expression in osteoarthritis might contribute to the degeneration of articular cartilage.Articular cartilage is mostly made of extracellular specialized collagens and proteoglycans, with physical properties that support frictionless movements and the load-bearing capacity of the joints. Homeostasis of carti-

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Localization Of Matn3 In Cartilaginous Tumorsmentioning

confidence: 97%

mentioning

confidence: 99%

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Increased expression of matrilin‐3 not only in osteoarthritic articular cartilage but also in cartilage‐forming tumors, and down‐regulation of SOX9 via epidermal growth factor domain 1–dependent signaling

Vincourt¹,

Vignaud²,

Lionneton³

et al. 2008

Arthritis & Rheumatism

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Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

Kannu¹,

Bateman²,

Belluoccio³

et al. 2009

Arthritis & Rheumatism

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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

et al. 2018

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Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD) (MIM# 208500). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Complementary zebrafish studies suggested that loss of full-length IFT81 protein but expression of a shorter form of IFT81 protein affects the phenotype while being compatible with life. Second, a de novo tandem duplication of exons 2 to 5 in MATN3 was identified in a girl with multiple epiphyseal dysplasia (MED) type 5 (MIM# 607078). Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.

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Matrilin-3 in human articular cartilage: increased expression in osteoarthritis

Abstract: We conclude that matrilin-3 is an integral component of human articular cartilage matrix and that the enhanced expression of matrilin-3 in OA may be a cellular response to the modified microenvironment in the disease.

Cited by 68 publications

References 32 publications

Increased expression of matrilin‐3 not only in osteoarthritic articular cartilage but also in cartilage‐forming tumors, and down‐regulation of SOX9 via epidermal growth factor domain 1–dependent signaling

Increased expression of matrilin‐3 not only in osteoarthritic articular cartilage but also in cartilage‐forming tumors, and down‐regulation of SOX9 via epidermal growth factor domain 1–dependent signaling

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

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