ArticleMolecular vision2011
Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Translational vision science & technology · 2022Article
- X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.Frontiers in ophthalmology · 2022Article
- X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.BMC medical genetics · 2019Review
- A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.Indian journal of ophthalmology · 2016Article
- A novel intracellular fibulin-1D variant binds to the cytoplasmic domain of integrin beta 1 subunit.Matrix biology : journal of the International Society for Matrix Biology · 2015Article
- Expression of a novel splice variant ofExperimental and therapeutic medicine · 2014Article
- Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Scientific reports · 2013Article
- A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.Human molecular genetics · 2013Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFERM 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.
methodsThe 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 qPCR. hemaglutinin (HA)-tagged recombinant plasmids DNA encoding hFRMD7-FL and Myc-tagged recombinant plasmids DNA encoding hFRMD7-S were used to transiently transfect the human NT2 cells. Further, immunofluorescence experiments were performed to determine the co-localization of the two fusion proteins. Finally, using co-immunoprecipitation analyses, we demonstrated that FRMD7-FL and FRMD7-S interacted with each other.
resultsA novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain. The FRMD7 transcripts showed similar tissue distributions and were upregulated following all trans retinoic acid (ATRA)-induced differentiation of NT2 cells. FRMD7-FL and FRMD7-S co-localized and co-immunoprecipitated with each other. Further, overexpression of FRMD7-FL in NT2 cells resulted in altered neurite development and upregulation of FRMD7-S.
conclusionsAlthough the significance of the 45 bp deletion remains unknown, our observations suggest that the FRMD7 isoforms may play a significant role during neuronal differentiation and development.
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22128244PMC3224827W2128489279What OpenQuestion holds
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