Rodriguez‑Mora, SaraDe Wit, FloreGarcía-Pérez, JavierBermejo, MercedesLopez-Huertas, Maria RosaMateos, ElenaMarti, PilarRocha, SusanaVigon-Hernandez, LorenaChrist, FraukeDebyser, ZegerVílchez, Juan JesúsCoiras, MayteAlcamí, José2019-10-072019-10-072019-08PLoS Pathog. 2019 Aug 29;15(8):e10079581553-7374http://hdl.handle.net/20.500.12105/8481The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the nuclear import factor Transportin 3 gene (TNPO3). This mutation causes a carboxy-terminal extension of 15 amino acids, producing a protein of unknown function (TNPO3_mut) that is co-expressed with wild-type TNPO3 (TNPO3_wt). TNPO3 has been involved in the nuclear transport of serine/arginine-rich proteins such as splicing factors and also in HIV-1 infection through interaction with the viral integrase and capsid. We analyzed the effect of TNPO3_mut on HIV-1 infection using PBMCs from patients with LGMD1F infected ex vivo. HIV-1 infection was drastically impaired in these cells and viral integration was reduced 16-fold. No significant effects on viral reverse transcription and episomal 2-LTR circles were observed suggesting that the integration of HIV-1 genome was restricted. This is the second genetic defect described after CCR5Δ32 that shows strong resistance against HIV-1 infection.engVoRhttp://creativecommons.org/licenses/by/4.0/Atribución 4.0 Internacional31465518158e100795810.1371/journal.ppat.10079581553-7374PLOS Pathogensopen access