title: Expression of a novel splice variant ofFRMD7in developing human fetal brains that is upregulated upon the differentiation of NT2 cells.
abstract: FRMD7mutations are associated with X-linked idiopathic congenital nystagmus (ICN); however, the underlying mechanisms whereby mutations ofFRMD7lead to ICN remain unclear. In a previous study, the firstFRMD7splice variant (FRMD7-S) was cloned and identified, andFRMD7-Swas hypothesized to play a significant role in neuronal differentiation and development. The present study investigated a novel multiple exon-skipping mRNA splice variant ofFRMD7, termedFRMD7_SV2, which was detected in NT2 cells using northern blotting. The mRNA expression levels ofFRMD7_SV2in the developing human fetal brain were examined using reverse transcription polymerase chain reaction (PCR), while the expression levels in NT2 cells treated with retinoid acid (RA) or bone morphogenetic protein-2 were investigated using quantitative PCR. The results revealed that the expression ofFRMD7_SV2was spatially and temporally restricted in human fetal brain development, and was upregulated upon RA-induced neuronal differentiation of the NT2 cells. These results indicated that as a novel splice variant ofFRMD7,FRMD7_SV2may play a role in neuronal development.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China.
authors.forename: Yingzhi
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China.
authors.forename: Jiali
authors.initials: J
authors.lastname: Pu
authors.affiliation: Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China.
authors.forename: Baorong
authors.initials: B
authors.lastname: Zhang
keywords: FRMD7; idiopathic congenital nystagmus; neuronal development; retinoic acid; splice variant