Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues

Jukka Kallijarvi, Riikka H. Hämäläinen, Niklas Karlberg, Kirsi Sainio, Anna-Elina Lehesjoki

    Research output: Contribution to journalArticleScientificpeer-review

    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.
    Original languageEnglish
    JournalHistochemistry and Cell Biology
    Volume126
    Pages (from-to)325-334
    Number of pages10
    ISSN0948-6143
    DOIs
    Publication statusPublished - 2006
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • TRIM37
    • mulibrey nanism
    • ubiquitin ligase
    • AUTOSOMAL RECESSIVE SYNDROME
    • COILED-COIL PROTEIN
    • RING-FINGER PROTEIN
    • FAMILY
    • AMPLIFICATION
    • DISEASE

    Cite this

    @article{c4fa6a7f5c4c4bbcb270c26d5e34c064,
    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.",
    keywords = "TRIM37, mulibrey nanism, ubiquitin ligase, AUTOSOMAL RECESSIVE SYNDROME, COILED-COIL PROTEIN, RING-FINGER PROTEIN, FAMILY, AMPLIFICATION, DISEASE",
    author = "Jukka Kallijarvi and H{\"a}m{\"a}l{\"a}inen, {Riikka H.} and Niklas Karlberg and Kirsi Sainio and Anna-Elina Lehesjoki",
    year = "2006",
    doi = "10.1007/s00418-006-0162-9",
    language = "English",
    volume = "126",
    pages = "325--334",
    journal = "Histochemistry and Cell Biology",
    issn = "0948-6143",
    publisher = "Springer",

    }

    Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. / Kallijarvi, Jukka; Hämäläinen, Riikka H.; Karlberg, Niklas; Sainio, Kirsi; Lehesjoki, Anna-Elina.

    In: Histochemistry and Cell Biology, Vol. 126, 2006, p. 325-334.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues

    AU - Kallijarvi, Jukka

    AU - Hämäläinen, Riikka H.

    AU - Karlberg, Niklas

    AU - Sainio, Kirsi

    AU - Lehesjoki, Anna-Elina

    PY - 2006

    Y1 - 2006

    N2 - 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.

    AB - 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.

    KW - TRIM37

    KW - mulibrey nanism

    KW - ubiquitin ligase

    KW - AUTOSOMAL RECESSIVE SYNDROME

    KW - COILED-COIL PROTEIN

    KW - RING-FINGER PROTEIN

    KW - FAMILY

    KW - AMPLIFICATION

    KW - DISEASE

    U2 - 10.1007/s00418-006-0162-9

    DO - 10.1007/s00418-006-0162-9

    M3 - Article

    VL - 126

    SP - 325

    EP - 334

    JO - Histochemistry and Cell Biology

    JF - Histochemistry and Cell Biology

    SN - 0948-6143

    ER -