title: Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues.
abstract: Mutations in the TRIM37 gene underlie mulibrey nanism (muscle-liver-brain-eye nanism), a rare monogenic developmental disorder characterized by severe growth failure, characteristic dysmorphic features, cardiopathy, failure of sexual maturation, and metabolic syndrome. The TRIM37 protein, a member of the tripartite motif subfamily of RING finger proteins, is highly conserved between human and mouse. High evolutionary conservation is seen also at the gene level. We here show that the mouse Trim37 gene presents several alternative splice variants, including a testis-specific transcript with an additional 3' exon. By Northern blot analysis the highest level of Trim37 mRNA was detected in testis and brain. In embryonic tissues, the Trim37 protein was detected in epithelia, including ducts of the developing pancreas, epithelium of the midgut and nasal epithelium. In adult mouse tissues, Trim37 immunoreactivity was detected in the central and peripheral nervous systems, including enteric ganglia, retina, and the adrenal medulla. Moreover, specific cellular populations in the adenohypophysis, pancreatic islets, intestine and gonads showed intense Trim37 staining. Both nuclear and granular cytoplasmic staining patterns were observed. These findings are in agreement with the clinical manifestations of mulibrey nanism and provide a basis for the future analysis of Trim37 knock-out mice.
authors.affiliation: Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, P.O.Box 63, 00014, Helsinki, Finland.
authors.forename: Jukka
authors.initials: J
authors.lastname: Kallijärvi
authors.forename: Riikka H
authors.initials: RH
authors.lastname: Hämäläinen
authors.forename: Niklas
authors.initials: N
authors.lastname: Karlberg
authors.forename: Kirsi
authors.initials: K
authors.lastname: Sainio
authors.forename: Anna-Elina
authors.initials: AE
authors.lastname: Lehesjoki
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D000906:Antibodies / Q000737:chemistry; D015152:Blotting, Northern; D004064:Digestive System / Q000378:metabolism; D004622:Embryo, Mammalian / Q000378:metabolism*; D004703:Endocrine System / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D007150:Immunohistochemistry; D051379:Mice; D050336:Mulibrey Nanism / Q000235:genetics / Q000378:metabolism*; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010455:Peptides / Q000737:chemistry; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases
chemical_list: D000906:Antibodies; D009687:Nuclear Proteins; D010455:Peptides; D000070584:Tripartite Motif Proteins; C518695:TRIM37 protein, mouse; D044767:Ubiquitin-Protein Ligases