Back to Search
Start Over
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
- Source :
- PLoS Pathogens; 8/29/2019, Vol. 15 Issue 8, p1-22, 22p
- Publication Year :
- 2019
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- MUSCULAR dystrophy
CARRIER proteins
INFECTION
CYTOLOGY
LEUCOCYTES
Subjects
Details
- Language :
- English
- ISSN :
- 15537366
- Volume :
- 15
- Issue :
- 8
- Database :
- Complementary Index
- Journal :
- PLoS Pathogens
- Publication Type :
- Academic Journal
- Accession number :
- 138330813
- Full Text :
- https://doi.org/10.1371/journal.ppat.1007958