Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome

Molecular Genetics & Genomic Medicine
Bijun LiYi Zou

Abstract

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. 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. 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 revea...Continue Reading

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Citations

Oct 22, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Laura SarnoGiulia Frisso
Jan 18, 2020·Molecular Genetics & Genomic Medicine·Swati R ChanchaniPhilip F Giampietro
Apr 4, 2019·Frontiers in Physiology·Melania Eva Zanchetta, Germana Meroni
Sep 22, 2020·American Journal of Medical Genetics. Part a·K Taylor WildElaine H Zackai
Jun 29, 2021·Genes & Diseases·Juan LiuZhaohui Feng

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