MID2, a homologue of the Opitz syndrome gene MID1

Similarities in subcellular localization and differences in expression during development

Georg Buchner, Eugenio Montini, Grazia Andolfi, Nandita Quaderi, Silvia Cainarca, Silvia Messali, Maria Teresa Bassi, Andrea Ballabio, Germana Meroni, Brunella Franco

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

The B-box family is an expanding new family of genes encoding proteins involved in diverse cellular functions such as developmental patterning and oncogenesis. A member of this protein family, MID1, is the gene responsible for the X-linked form of Opitz G/BBB syndrome, a developmental disorder characterized by defects of the midline structures. We now report the identification of MID2, a new transcript closely related to MID1. MID2 maps to Xq22 in human and to the syntenic region on the mouse X chromosome. The two X-linked genes share the same domains, the same exon-intron organization, a high degree of similarity at the protein level and the same subcellular localization, both being confined to the cytoplasm in association to microtubular structures. The expression pattern studied by RNA in situ hybridization in mouse revealed that Mid2 is expressed early in development and the highest level of expression is detected in the heart, unlike Mid1 for which no expression was detected in the developing heart. Together, these data suggest that midin and MID2 have a similar biochemical function but a different physiological role during development.

Original languageEnglish
Pages (from-to)1397-1407
Number of pages11
JournalHuman Molecular Genetics
Volume8
Issue number8
DOIs
Publication statusPublished - 1999

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X-Linked Genes
Genes
Proteins
X Chromosome
Introns
In Situ Hybridization
Exons
Carcinogenesis
Cytoplasm
RNA
X-Linked Opitz GBBB Syndrome
Hypertelorism with esophageal abnormality and hypospadias

ASJC Scopus subject areas

  • Genetics

Cite this

MID2, a homologue of the Opitz syndrome gene MID1 : Similarities in subcellular localization and differences in expression during development. / Buchner, Georg; Montini, Eugenio; Andolfi, Grazia; Quaderi, Nandita; Cainarca, Silvia; Messali, Silvia; Bassi, Maria Teresa; Ballabio, Andrea; Meroni, Germana; Franco, Brunella.

In: Human Molecular Genetics, Vol. 8, No. 8, 1999, p. 1397-1407.

Research output: Contribution to journalArticle

Buchner, Georg ; Montini, Eugenio ; Andolfi, Grazia ; Quaderi, Nandita ; Cainarca, Silvia ; Messali, Silvia ; Bassi, Maria Teresa ; Ballabio, Andrea ; Meroni, Germana ; Franco, Brunella. / MID2, a homologue of the Opitz syndrome gene MID1 : Similarities in subcellular localization and differences in expression during development. In: Human Molecular Genetics. 1999 ; Vol. 8, No. 8. pp. 1397-1407.
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