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Genetics Home Reference: your guide to understanding genetic conditions
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TSEN34

Reviewed December 2009

What is the official name of the TSEN34 gene?

The official name of this gene is “TSEN34 tRNA splicing endonuclease subunit.”

TSEN34 is the gene's official symbol. The TSEN34 gene is also known by other names, listed below.

What is the normal function of the TSEN34 gene?

The TSEN34 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 TSEN34 gene related to health conditions?

pontocerebellar hypoplasia - caused by mutations in the TSEN34 gene

At least one mutation in the TSEN34 gene has been found to cause pontocerebellar hypoplasia type 2 (PCH2). This mutation replaces the amino acid arginine with the amino acid tryptophan at position 58 in the TSEN34 protein (written as Arg58Trp or R58W). It is unclear how mutations in this gene alter the function of the tRNA splicing endonuclease complex and disrupt normal brain development. Researchers believe that TSEN34 gene mutations are probably responsible for only a small percentage of all cases of PCH2.

Where is the TSEN34 gene located?

Cytogenetic Location: 19q13.4

Molecular Location on chromosome 19: base pairs 54,190,265 to 54,194,535

The TSEN34 gene is located on the long (q) arm of chromosome 19 at position 13.4.

The TSEN34 gene is located on the long (q) arm of chromosome 19 at position 13.4.

More precisely, the TSEN34 gene is located from base pair 54,190,265 to base pair 54,194,535 on chromosome 19.

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 TSEN34?

You and your healthcare professional may find the following resources about TSEN34 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TSEN34 gene or gene products?

  • LENG5
  • SEN34
  • SEN34_HUMAN
  • SEN34L
  • tRNA splicing endonuclease 34
  • tRNA splicing endonuclease 34 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 TSEN34?

acids ; amino acid ; arginine ; DNA ; endonuclease ; enzyme ; gene ; hypoplasia ; messenger RNA ; mRNA ; mutation ; polyadenylation ; protein ; RNA ; splicing ; subunit ; transfer RNA ; tRNA ; tryptophan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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)
  • 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)
  • 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/79042)
  • 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)

 

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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2009
Published: November 17, 2014