title: Matrilin-3 is dispensable for mouse skeletal growth and development.
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.
authors.affiliation: Center for Biochemistry, Medical Faculty, University of Cologne, D-50931 Cologne, Germany.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Ko
authors.forename: Birgit
authors.initials: B
authors.lastname: Kobbe
authors.forename: Claudia
authors.initials: C
authors.lastname: Nicolae
authors.forename: Nicolai
authors.initials: N
authors.lastname: Miosge
authors.forename: Mats
authors.initials: M
authors.lastname: Paulsson
authors.forename: Raimund
authors.initials: R
authors.lastname: Wagener
authors.forename: Attila
authors.initials: A
authors.lastname: Aszódi
mesh_terms: D000818:Animals; D001846:Bone Development; D001842:Bone and Bones / Q000196:embryology* / Q000378:metabolism*; D002356:Cartilage / Q000166:cytology; D002454:Cell Differentiation; D016326:Extracellular Matrix Proteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D017353:Gene Deletion; D007150:Immunohistochemistry; D064235:Matrilin Proteins; D051379:Mice; D018345:Mice, Knockout; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012863:Skeleton; D013977:Tibia / Q000166:cytology / Q000196:embryology / Q000254:growth & development / Q000648:ultrastructure
chemical_list: D016326:Extracellular Matrix Proteins; C577546:Matn3 protein, mouse; D064235:Matrilin Proteins; D012333:RNA, Messenger