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The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
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The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
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Journal Article
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
2019
Overview
The 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.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
Acquired immune deficiency syndrome
/ Adult
/ AIDS
/ Arginine
/ beta Karyopherins - genetics
/ Child
/ Codons
/ DNA
/ Female
/ Genomes
/ Genomics
/ HIV
/ HIV Infections - prevention & control
/ Human immunodeficiency virus
/ Humans
/ Infant
/ Kinases
/ Male
/ Medicine and Health Sciences
/ Muscular Dystrophies, Limb-Girdle - genetics
/ Muscular Dystrophies, Limb-Girdle - pathology
/ Mutation
/ Pedigree
/ Proteins
/ Research and Analysis Methods
/ Serine
/ Splicing
/ Virology
/ Virus Replication - genetics
/ Viruses
