title: Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes.
abstract: We isolated full-length cDNA clones for human matrilin-2, an oligomeric protein, which forms filamentous networks in the extracellular matrices of various tissues. The human matrilin-2 precursor is encoded by a 4.0-kb mRNA, it consists of 956 amino acids and shows 93% similarity to the mouse protein. Out of the two von Willebrand factor type A-like domains, the 10 epidermal growth factor-type modules, one unique sequence and the oligomerization module, the first A domain is the most conserved. RT-PCR demonstrated wide expression of the gene in human cell lines of fibroblastic or epithelial origin. Alternative splicing affected only 19 amino acids in a 75-moiety-long segment, unique to matrilin-2. Isolation and analysis of the 3' end of the gene revealed that the reason for alternative splicing is alternative 3' splice site selection. Further, we identified in the human matrilin-2 gene a U12 type AT-AC intron between the last two exons encoding the oligomerization domain. We mapped the matrilin-2 gene (MATN2) by fluorescence in situ hybridization at chromosome position 8q22.
authors: Institute of Biochemistry, Biological Research Center of the Hungarian Academy of Sciences, Szeged, Hungary.
authors: S
authors: S
authors: Muratoglu
authors: K
authors: K
authors: Krysan
authors: M
authors: M
authors: Balázs
authors: H
authors: H
authors: Sheng
authors: R
authors: R
authors: Zákány
authors: L
authors: L
authors: Módis
authors: I
authors: I
authors: Kiss
authors: F
authors: F
authors: Deák
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003001:Cloning, Molecular; D017124:Conserved Sequence / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000737:chemistry* / Q000235:genetics*; D006023:Glycoproteins / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics*; D064235:Matrilin Proteins; D051379:Mice; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014841:von Willebrand Factor / Q000737:chemistry
chemical_list: D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577541:MATN2 protein, human; C577542:Matn2 protein, mouse; D064235:Matrilin Proteins; D022821:RNA Splice Sites; D012333:RNA, Messenger; D014841:von Willebrand Factor