Reviewed December 2009
What is the official name of the TSEN54 gene?
The official name of this gene is “TSEN54 tRNA splicing endonuclease subunit.”
TSEN54 is the gene's official symbol. The TSEN54 gene is also known by other names, listed below.
What is the normal function of the TSEN54 gene?
The TSEN54 gene provides instructions for making one part (subunit) of an enzyme called the tRNA splicing endonuclease complex. This complex helps process several types of RNA molecules, which are chemical cousins of DNA.
The tRNA splicing endonuclease complex is particularly important for the normal processing of a form of RNA known as transfer RNA (tRNA). tRNA molecules help assemble protein building blocks known as amino acids into full-length proteins. However, before they can assemble proteins, tRNAs must be processed into mature molecules. In particular, some tRNA molecules contain regions called introns that need to be removed for the tRNAs to be functional. The tRNA splicing endonuclease complex recognizes and then removes introns to help produce mature tRNA molecules.
Studies suggest that the tRNA splicing endonuclease complex may also be involved in processing another form of RNA known as messenger RNA (mRNA). mRNA serves as a genetic blueprint for making proteins. Researchers suspect that the tRNA splicing endonuclease complex cuts (cleaves) one end of mRNA molecules so a string of adenines (one of the building blocks of RNA) can be added. This process is known as polyadenylation, and the string of adenines is known as a poly(A) tail. The poly(A) tail signals the stopping point for protein production and protects mRNA from being broken down before protein production occurs.
How are changes in the TSEN54 gene related to health conditions?
- pontocerebellar hypoplasia - caused by mutations in the TSEN54 gene
Several mutations in the TSEN54 gene have been found to cause pontocerebellar hypoplasia. These mutations can cause either pontocerebellar hypoplasia type 2 (PCH2) or type 4 (PCH4). The most common mutation replaces the amino acid alanine with the amino acid serine at position 307 in the TSEN54 protein (written as Ala307Ser or A307S). Most people with PCH2 have this mutation in both copies of the TSEN54 gene in each cell. Individuals with PCH4 usually have the common Ala307Ser mutation in one copy of the TSEN54 gene in each cell and a more severe mutation in the other copy of the gene.
It is unclear how mutations in the TSEN54 gene alter the function of the tRNA splicing endonuclease complex and disrupt normal brain development. Researchers believe that mutations in this gene are probably responsible for most cases of PCH2 and PCH4.
Where is the TSEN54 gene located?
Cytogenetic Location: 17q25.1
Molecular Location on chromosome 17: base pairs 75,515,706 to 75,524,739
The TSEN54 gene is located on the long (q) arm of chromosome 17 at position 25.1.
More precisely, the TSEN54 gene is located from base pair 75,515,706 to base pair 75,524,739 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about TSEN54?
You and your healthcare professional may find the following resources about TSEN54 helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): From RNA to Protein (http://www.ncbi.nlm.nih.gov/books/NBK26829/)
- Molecular Biology of the Cell (fourth edition, 2002): Structure of a tRNA-splicing endonuclease docked to a precursor tRNA (figure) (http://www.ncbi.nlm.nih.gov/books/NBK26829/?rendertype=figure&id=A1060)
- The Cell: A Molecular Approach (second edition, 2000): Processing of mRNA in Eukaryotes (http://www.ncbi.nlm.nih.gov/books/NBK9864/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK9673)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for TSEN54 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283989%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/608755)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=283989)
- HGNC Gene Family: tRNA splicing endonuclease subunits (http://www.genenames.org/genefamilies/TSEN)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=27561)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/283989)
What other names do people use for the TSEN54 gene or gene products?
- tRNA-intron endonuclease Sen54
- tRNA splicing endonuclease 54 homolog
- tRNA splicing endonuclease 54 homolog (S. cerevisiae)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding TSEN54?
amino acid ;
messenger RNA ;
transfer RNA ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bailey KA, Aldinger KA. Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_3.x. (http://www.ncbi.nlm.nih.gov/pubmed/19459882?dopt=Abstract)
- Battini R, D'Arrigo S, Cassandrini D, Guzzetta A, Fiorillo C, Pantaleoni C, Romano A, Alfei E, Cioni G, Santorelli FM. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/23307886?dopt=Abstract)
- Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. (http://www.ncbi.nlm.nih.gov/pubmed/18711368?dopt=Abstract)
- Gene Review: TSEN54-Related Pontocerebellar Hypoplasia (http://www.ncbi.nlm.nih.gov/books/NBK9673)
- Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. (http://www.ncbi.nlm.nih.gov/pubmed/20952379?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/283989)
- Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. Cell. 2004 Apr 30;117(3):311-21. (http://www.ncbi.nlm.nih.gov/pubmed/15109492?dopt=Abstract)
- Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009. (http://www.ncbi.nlm.nih.gov/pubmed/21824568?dopt=Abstract)
- Simonati A, Cassandrini D, Bazan D, Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6. (http://www.ncbi.nlm.nih.gov/pubmed/21468723?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.