Overview of Gene Special Issue “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”

Abstract

In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented which suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms [...]

Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells

“…Since the advent of high-throughput sequencing technologies and the global advance in knowledge of the genome, several genes have been associated with AIS, but for the most part, without an explicit molecular mechanism [31]. Among the genes that have been confirmed to be involved in the development of scoliosis in humans (TBX6, FGF3, LBX1, POC5, TTLL1) [23,24,[32][33][34][35] and vertebrates (Kif6 and Ptk) [36,37], several are ciliary genes [23,[32][33][34][35][36][37].…”

“…Among the genes that have been confirmed to be involved in the development of scoliosis in humans (TBX6, FGF3, LBX1, POC5, TTLL1) [23,24,[32][33][34][35] and vertebrates (Kif6 and Ptk) [36,37], several are ciliary genes [23,[32][33][34][35][36][37]. The ciliary-related gene POC5 explains 10-14% of AIS family cases [23][24][25][26][27][29][30][31][32][33][34][35][36][37][38]. One of the most important questions asked over decades is why girls are more affected than boys and why puberty is the period during which AIS predominantly progresses in girls.…”