Human Molecular Genetics, Vol 8, 1387-1396, Copyright © 1999 by Oxford University Press
S Cainarca, S Messali, A Ballabio and G Meroni
Opitz syndrome (OS) is a multiple congenital anomaly manifested by abnormal
closure of midline structures. The gene responsible for the X- linked form
of this disease, MID1, encodes a protein (midin) that contains a RING, two
B-boxes, a coiled-coil (the so-called tripartite motif) and an RFP-like
domain. The tripartite motif is characteristic of a family of proteins,
named the B-box family, involved in cell proliferation and development.
Since the subcellular compartmentalization and the ability to form
multiprotein structures both appear to be crucial for the function of this
family of proteins, we have studied these properties on the wild-type and
mutated forms of midin. We found that endogenous midin is associated with
microtubules throughout the cell cycle, co-localizing with cytoplasmic
fibres in interphase and with the mitotic spindle and midbodies during
mitosis and cytokinesis. Immunoprecipitation experiments demonstrated the
ability of the tripartite motif to mediate midin homodimerization,
consistent with the evidence, obtained by gel filtration analysis, that
midin exists in the form of large protein complexes. Functional
characterization of altered forms of midin, resulting from mutations found
in OS patients, revealed that association with microtubules is compromised,
while the ability to homodimerize and form multiprotein complexes is
retained. We suggest that midin is involved in the formation of
multiprotein structures acting as anchor points to microtubules and that
impaired association with these cytoskeletal structures causes OS
developmental defects.
ARTICLES
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle
Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Via Olgettina 58, Milan, Italy.
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