Disease relevance of Nxf1

• A natural allele of Nxf1 suppresses retrovirus insertional mutations [1].
• The modifier-of-vibrator-1 locus (Mvb1) controls levels of correctly processed mRNA from genes mutated by endogenous retrovirus insertions into introns, including the Pitpn(vb) tremor mutation and the Eya1(BOR) model of human branchiootorenal syndrome [1].
• The absence of female-specific Tap gene defects also indicates this cannot account for the reduced male incidence of IDDM in some NOD mouse colonies [2].
• Investigation of the role of type IV Aeromonas pilus (Tap) in the pathogenesis of Aeromonas gastrointestinal infection [3].
• However, the Mason-Pfizer monkey virus (MPMV) has been shown to encode a structured RNA sequence, termed the constitutive transport element (CTE), that recruits a cellular RNA export factor termed Tap [4].

High impact information on Nxf1

• Positional complementation cloning identifies Mvb1 as the nuclear export factor Nxf1, providing an unexpected link between the mRNA export receptor and pre-mRNA processing [1].
• Identification of a Tap-dependent leader peptide recognized by alloreactive T cells specific for a class Ib antigen [5].
• We performed a complete genome scan and mapped a major suppressor locus (Mvb-1) to proximal chromosome 19 [6].
• TLP was identified as a gene product which is upregulated in a thymus in which selection of T cells is occurring (Rag(-/-) OT-1) compared to its expression in a thymus in which selection is blocked at the CD4+ CD8+ stage of T-cell development (Rag(-/-) Tap(-/-) OT-1) [7].
• Thus, the H2g7 haplotype is not characterized by a Tap gene defect that only impairs the inductive phase of the immune response [2].

Biological context of Nxf1

• Transient transfection experiments indicated that only mouse Tap and NXF2 enhance the nuclear export of an otherwise inefficiently exported mRNA substrate [8].
• The roles of other genetic factors, including major histocompatibility complex class II genes and other genes located within this region (Tap/Lmp), have been postulated in certain spondyloarthropathies [9].

Analytical, diagnostic and therapeutic context of Nxf1

• Tocopherol-associated protein (Tap) was one of the induced genes, and the Tap induction in response to activin A treatment was confirmed by real-time RT-PCR analyses [10].

References