Biology:Poly(A)-specific ribonuclease

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Poly(A)-specific ribonuclease (PARN), also known as polyadenylate-specific ribonuclease or deadenylating nuclease (DAN), is an enzyme that in humans is encoded by the PARN gene.[1][2]

Function

Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. The amino acid sequence of poly(A)-specific ribonuclease shows homology to the RNase D family of 3'-exonucleases. The protein appears to be localized in both the nucleus and the cytoplasm. It is not stably associated with polysomes or ribosomal subunits.[2] Hereditary mutations in PARN lead to the bone marrow failure disease dyskeratosis congenita which is caused by defective telomerase RNA processing and degradation in patients.[3][4][5][6][7][8][9]

References

  1. "The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman region on 15q11→q13". Cytogenetics and Cell Genetics 87 (1–2): 125–31. May 2000. doi:10.1159/000015378. PMID 10640832. 
  2. 2.0 2.1 "Entrez Gene: PARN poly(A)-specific ribonuclease (deadenylation nuclease)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5073. 
  3. "Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita". The Journal of Clinical Investigation 125 (5): 2151–60. May 2015. doi:10.1172/JCI78963. PMID 25893599. 
  4. "Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)". Journal of Medical Genetics 52 (11): 738–48. November 2015. doi:10.1136/jmedgenet-2015-103292. PMID 26342108. 
  5. "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening". Nature Genetics 47 (5): 512–7. May 2015. doi:10.1038/ng.3278. PMID 25848748. 
  6. "Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects". Nature Structural & Molecular Biology 23 (4): 286–92. April 2016. doi:10.1038/nsmb.3184. PMID 26950371. 
  7. "Human Telomerase RNA Processing and Quality Control". Cell Reports 13 (10): 2232–43. December 2015. doi:10.1016/j.celrep.2015.10.075. PMID 26628367. 
  8. "A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA". Cell Reports 13 (10): 2244–57. December 2015. doi:10.1016/j.celrep.2015.11.003. PMID 26628368. 
  9. "Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component". Nature Genetics 47 (12): 1482–8. December 2015. doi:10.1038/ng.3423. PMID 26482878. 

Further reading