Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development

Yaping Ko, Birgit Kobbe, Claudia Nicolae, Nicolai Miosge, Mats Paulsson, Raimund Wagener, Attila Aszódi

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to autosomal dominant skeletal disorders, such as multiple epiphyseal dysplasia (MED), which is characterized by short stature and early-onset osteoarthritis, and bilateral hereditary microepiphyseal dysplasia, a variant form of MED characterized by pain in the hip and knee joints. To assess the function of matrilin-3 during skeletal development, we have generated Matn-3 null mice. Homozygous mutant mice appear normal, are fertile, and show no obvious skeletal malformations. Histological and ultrastructural analyses reveal endochondral bone formation indistinguishable from that of wild-type animals. Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family. Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM.

Original languageEnglish (US)
Pages (from-to)1691-1699
Number of pages9
JournalMolecular and cellular biology
Volume24
Issue number4
DOIs
StatePublished - Feb 1 2004

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Matrilin Proteins
Growth and Development
Osteochondrodysplasias
Cartilage
Wild Animals
Extracellular Matrix Proteins
Hip Joint
Knee Joint
Osteogenesis
Osteoarthritis
Northern Blotting
Extracellular Matrix
Up-Regulation
Phenotype
Pain
Mutation

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Cell Biology

Cite this

Ko, Yaping ; Kobbe, Birgit ; Nicolae, Claudia ; Miosge, Nicolai ; Paulsson, Mats ; Wagener, Raimund ; Aszódi, Attila. / Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development. In: Molecular and cellular biology. 2004 ; Vol. 24, No. 4. pp. 1691-1699.
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abstract = "Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to autosomal dominant skeletal disorders, such as multiple epiphyseal dysplasia (MED), which is characterized by short stature and early-onset osteoarthritis, and bilateral hereditary microepiphyseal dysplasia, a variant form of MED characterized by pain in the hip and knee joints. To assess the function of matrilin-3 during skeletal development, we have generated Matn-3 null mice. Homozygous mutant mice appear normal, are fertile, and show no obvious skeletal malformations. Histological and ultrastructural analyses reveal endochondral bone formation indistinguishable from that of wild-type animals. Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family. Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM.",
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Ko, Y, Kobbe, B, Nicolae, C, Miosge, N, Paulsson, M, Wagener, R & Aszódi, A 2004, 'Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development', Molecular and cellular biology, vol. 24, no. 4, pp. 1691-1699. https://doi.org/10.1128/MCB.24.4.1691-1699.2004

Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development. / Ko, Yaping; Kobbe, Birgit; Nicolae, Claudia; Miosge, Nicolai; Paulsson, Mats; Wagener, Raimund; Aszódi, Attila.

In: Molecular and cellular biology, Vol. 24, No. 4, 01.02.2004, p. 1691-1699.

Research output: Contribution to journalArticle

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AU - Ko, Yaping

AU - Kobbe, Birgit

AU - Nicolae, Claudia

AU - Miosge, Nicolai

AU - Paulsson, Mats

AU - Wagener, Raimund

AU - Aszódi, Attila

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N2 - Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to autosomal dominant skeletal disorders, such as multiple epiphyseal dysplasia (MED), which is characterized by short stature and early-onset osteoarthritis, and bilateral hereditary microepiphyseal dysplasia, a variant form of MED characterized by pain in the hip and knee joints. To assess the function of matrilin-3 during skeletal development, we have generated Matn-3 null mice. Homozygous mutant mice appear normal, are fertile, and show no obvious skeletal malformations. Histological and ultrastructural analyses reveal endochondral bone formation indistinguishable from that of wild-type animals. Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family. Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM.

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