Abstract:
:Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, heart defects, and mental retardation. We recently identified the gene responsible for X-linked OS. The ubiquitously expressed gene product, MID1, is a member of the RING finger family. These proteins are characterized by an N-terminal tripartite protein-protein interaction domain and a conserved C terminus of unknown function. Unlike other RING finger proteins for which diverse cellular functions have been proposed, the function of MID1 is as yet undefined. By using the green fluorescent protein as a tag, we show here that MID1 is a microtubule-associated protein that influences microtubule dynamics in MID1-overexpressing cells. We confirm this observation by demonstrating a colocalization of MID1 and tubulin in subcellular fractions and the association of endogenous MID1 with microtubules after in vitro assembly. Furthermore, overexpressed MID1 proteins harboring mutations described in OS patients lack the capability to associate with microtubules, forming cytoplasmic clumps instead. These data give an idea of the possible molecular pathomechanism underlying the OS phenotype.
journal_name
Proc Natl Acad Sci U S Aauthors
Schweiger S,Foerster J,Lehmann T,Suckow V,Muller YA,Walter G,Davies T,Porter H,van Bokhoven H,Lunt PW,Traub P,Ropers HHdoi
10.1073/pnas.96.6.2794keywords:
subject
Has Abstractpub_date
1999-03-16 00:00:00pages
2794-9issue
6eissn
0027-8424issn
1091-6490journal_volume
96pub_type
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