Alternative titles; symbols
HGNC Approved Gene Symbol: SUPV3L1
Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,180,234-69,209,093 (from NCBI)
Inactivation of the putative RNA helicase Suv3 in yeast causes respiratory incompetence. By searching an EST database and by screening a HeLa cell cDNA library, Dmochowska et al. (1999) obtained a cDNA encoding SUPV3L1, a deduced 786-amino acid protein that shares homology with Suv3. Helical wheel analysis predicted that SUPV3L1 contains a conserved mitochondrial leader sequence. Northern blot analysis detected an approximately 2.6-kb SUPV3L1 transcript in all tissues tested, with highest expression relative to actin (see 102540) in liver, pancreas, and kidney, and lowest expression in lung.
Mitochondrial nucleoids are large complexes containing, on average, 5 to 7 mitochondrial DNA (mtDNA) genomes and several proteins involved in mtDNA replication and transcription, as well as related processes. Bogenhagen et al. (2008) had previously shown that SUPV3L1 was associated with native purified HeLa cell nucleoids. Using a formaldehyde crosslinking technique, they found that SUPV3L1 copurified with mtDNA and was a core nucleoid protein. Bogenhagen et al. (2008) confirmed these findings by Western blot analysis.
By FISH, Dmochowska et al. (1998) mapped the SUPV3L1 gene to 10q22.1.
Paul et al. (2009) stated that Supv3l1 deletion in mice is embryonic lethal. They found that homozygous deletion of Supv3l1 exon 14, which encodes the helicase domain, was also embryonic lethal. Conditional ablation techniques that progressively inactivated Supv3l1 resulted in mutant animals that appeared normal at birth. However, disruption of Supv3l1 delayed growth, reduced life span, caused loss of adipose tissue and muscle mass, and resulted in a wide range of skin abnormalities. Paul et al. (2009) concluded that SUPV3L1 is important for the maintenance of the skin barrier and for normal growth and aging.
Bogenhagen, D. F., Rousseau, D., Burke, S. The layered structure of human mitochondrial DNA nucleoids. J. Biol. Chem. 283: 3665-3675, 2008. [PubMed: 18063578] [Full Text: https://doi.org/10.1074/jbc.M708444200]
Dmochowska, A., Kalita, K., Krawczyk, M., Golik, P., Mroczek, K., Lazowska, J., Stepien, P. P., Bartnik, E. A human putative Suv3-like RNA helicase is conserved between Rhodobacter and all eukaryotes. Acta Biochim. Pol. 46: 155-162, 1999. [PubMed: 10453991]
Dmochowska, A., Stankiewicz, P., Golik, P., Stepien, P. P., Bocian, E., Hansmann, I., Bartnik, E. Assignment of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization. Cytogenet. Cell Genet. 83: 84-85, 1998. [PubMed: 9925937] [Full Text: https://doi.org/10.1159/000015135]
Paul, E., Cronan, R., Weston, P. J., Boekelheide, K., Sedivy, J. M., Lee, S.-Y., Wiest, D. L., Resnick, M. B., Klysik, J. E. Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death. Mammalian Genome 20: 92-108, 2009. [PubMed: 19145458] [Full Text: https://doi.org/10.1007/s00335-008-9168-z]