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 language | English |
|---|---|
| Pages (from-to) | 1397-1407 |
| Number of pages | 11 |
| Journal | Human Molecular Genetics |
| Volume | 8 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 1999 |
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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 journal › Article
}
TY - JOUR
T1 - MID2, a homologue of the Opitz syndrome gene MID1
T2 - Similarities in subcellular localization and differences in expression during development
AU - Buchner, Georg
AU - Montini, Eugenio
AU - Andolfi, Grazia
AU - Quaderi, Nandita
AU - Cainarca, Silvia
AU - Messali, Silvia
AU - Bassi, Maria Teresa
AU - Ballabio, Andrea
AU - Meroni, Germana
AU - Franco, Brunella
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
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U2 - 10.1093/hmg/8.8.1397
DO - 10.1093/hmg/8.8.1397
M3 - Article
VL - 8
SP - 1397
EP - 1407
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 8
ER -