Abstract:
BACKGROUND:Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein phosphatase 2Ac. MID2, a homolog of MID1, shares high structural and functional similarities with MID1. Identification of a missense mutation in MID2 in an Indian family causing overlapping phenotypes with OS provided the first evidence that MID2 might be involved in similar pathogenesis. METHODS:The clinic features and the genetic findings of all reported X-linked OS were collectively summarized in this research. Real-time RT-PCR and in situ hybridization were used in the expression studies of Mid1/Mid2 in mouse embryos. RESULTS:Up-to-date, 88 different mutations have been identified in MID1 and most mutations occurred on the conserved amino acids of MID1 and MID2. Expression studies using real-time RT-PCR implicated a tendency of a mutually repressive expression pattern between Mid1 and Mid2 in mouse embryos. Further investigations using in situ hybridization revealed strong expressions of Mid1 and Mid2 in the epithelium of approaching facial prominences and downregulated expressions after fusion in mouse embryos. CONCLUSIONS:Our results support the hypothesis of functional redundancy of Mid1/Mid2 and their potential roles in regulating tissue remodelling in early development.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Li B,Zhou T,Zou Ydoi
10.1002/mgg3.183subject
Has Abstractpub_date
2015-12-12 00:00:00pages
95-105issue
1issn
2324-9269pii
MGG3183journal_volume
4pub_type
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