Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.

ABSTRACT:

Purpose

FERM domain containing protein 7 (FRMD7) mutations are associated with X-linked idiopathic congenital nystagmus (ICN). The purpose of this study is to identify a novel splice variant of FRMD7 (FRMD7-S) in both humans and mice with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL),and to detect the role of FRMD7-FL and FRMD7-S in the process of neuronal development.

Methods

The splice variant of FRMD7 was identified by PCR. Expression levels of hFRMD7-FL and hFRMD7-S transcripts in developing human fetal brain were tested by RT-PCR, and expression levels in the human pluripotent embryonic carcinoma NTera 2/cl.D1 (NTERA-2; NT2) cell line with all-trans retinoic acid (ATRA) or bone morphogenetic protein-2 (BMP-2) treatment were tested by real-time qPC

SUBMITTER: Li Y 

PROVIDER: S-EPMC3224827 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature