Human Molecular Genetics, Vol 8, 1397-1407, Copyright © 1999 by Oxford University Press
G Buchner, E Montini, G Andolfi, N Quaderi, S Cainarca, S Messali, MT Bassi, A Ballabio, G Meroni and B Franco
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 micro-tubular 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.
ARTICLES
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development
Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Via Olgettina 58, 20132 Milan, Italy.
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