TSEN54 (gene)

Last updated
TSEN54
Identifiers
Aliases TSEN54 , PCH2A, PCH4, SEN54L, sen54, PCH5, tRNA splicing endonuclease subunit 54
External IDs OMIM: 608755; MGI: 1923515; HomoloGene: 35476; GeneCards: TSEN54; OMA:TSEN54 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_207346

NM_029557

RefSeq (protein)

NP_997229

NP_083833

Location (UCSC) Chr 17: 75.52 – 75.52 Mb Chr 11: 115.71 – 115.71 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. [5]

Contents

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]

Related Research Articles

In molecular biology, endonucleases are enzymes that cleave the phosphodiester bond within a polynucleotide chain. Some, such as deoxyribonuclease I, cut DNA relatively nonspecifically, while many, typically called restriction endonucleases or restriction enzymes, cleave only at very specific nucleotide sequences. Endonucleases differ from exonucleases, which cleave the ends of recognition sequences instead of the middle (endo) portion. Some enzymes known as "exo-endonucleases", however, are not limited to either nuclease function, displaying qualities that are both endo- and exo-like. Evidence suggests that endonuclease activity experiences a lag compared to exonuclease activity.

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<span class="mw-page-title-main">Dyskerin</span> Protein

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Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.

<span class="mw-page-title-main">GTF2H2</span> Protein-coding gene in the species Homo sapiens

General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.

<span class="mw-page-title-main">Exosome component 3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TSEN2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Pontocerebellar hypoplasia</span> Group of neurodegenerative disorders

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem. Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.

tRNA-intron lyase is an enzyme. As an endonuclease enzyme, tRNA-intron lyase is responsible for splicing phosphodiester bonds within non-coding ribonucleic acid chains. These non-coding RNA molecules form tRNA molecules after being processed, and this is dependent on tRNA-intron lyase to splice the pretRNA. tRNA processing is an important post-transcriptional modification necessary for tRNA maturation because it locates and removes introns in the pretRNA. This enzyme catalyses the following chemical reaction:

<span class="mw-page-title-main">Mental retardation and microcephaly with pontine and cerebellar hypoplasia</span> Rare X-linked dominant genetic disorder

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000182173 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020781 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: TRNA splicing endonuclease subunit 54" . Retrieved 2016-10-18.
  6. 1 2 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. 8 (10): e1413. doi: 10.1002/mgg3.1413 . PMC   7549571 . PMID   32697043.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.