TSEN54 (gene)
TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. [5]
Function
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing.
Clinical significance
Mutations in this gene result in pontocerebellar hypoplasia type 2. Sepahvand et al. declared that due to the greatly overlapped phenotypes with well‐described types of PCH, e.g. PCH2, PCH4, and PCH5, "TSENopathies" term should be used which encompasses all described phenotypes of PCHs.[6]. They also reported an infratentorial chronic subdural hematoma was detected next to the Galen vein that had been developed in the line of anterior flax, supra‐ and infratentorial atrophy, hypoplasia of the pons, cerebellum and corpus callosum, delayed cerebral myelination and gray and white matter volume loss, absent folding of the olivary nucleus, and loss of transverse fibers of the pons. An extra-axial CSF space was also evident due to brain atrophy. Two novel phenotype was also reported by Sepahvand et al. as structural heart diseases including a large patent foramen ovale (>23 microbubbles), patent ductus arteriosus, and mild tricuspid and mitral valve regurgitations, and a bilaterally moderate sensorineural hearing loss.[6]
References
- GRCh38: Ensembl release 89: ENSG00000182173 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000020781 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: TRNA splicing endonuclease subunit 54". Retrieved 2016-10-18.
- Sepahvand A, Razmara E, Bitarafan F, Galehdari M, Tavasoli AR, Almadani N, Garshasbi M (July 2020). "A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family". EMolecular Genetics and Genomic Medicine. doi:10.1002/mgg3.1413.
Further reading
- 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 (2008). "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia". Nat. Genet. 40 (9): 1113–8. doi:10.1038/ng.204. PMID 18711368.
- Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E (2010). "Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies". Neurology. 75 (16): 1459–64. doi:10.1212/WNL.0b013e3181f88173. PMID 20956791.
- Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY (2011). "Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development". J. Child Neurol. 26 (3): 288–94. doi:10.1177/0883073810380047. PMID 21383226.
- Simonati A, Cassandrini D, Bazan D, Santorelli FM (2011). "TSEN54 mutation in a child with pontocerebellar hypoplasia type 1". Acta Neuropathol. 121 (5): 671–3. doi:10.1007/s00401-011-0823-1. PMID 21468723.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.