Poly(A)-specific ribonuclease

PARN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPARN, DAN, DKCB6, PFBMFT4, Poly(A)-specific ribonuclease
External IDsOMIM: 604212; MGI: 1921358; HomoloGene: 31098; GeneCards: PARN; OMA:PARN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001134477
NM_001242992
NM_002582

NM_028761
NM_001358452
NM_001358453

RefSeq (protein)

NP_001127949
NP_001229921
NP_002573

NP_083037
NP_001345381
NP_001345382

Location (UCSC)Chr 16: 14.44 – 14.63 MbChr 16: 13.36 – 13.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6]

Function

[edit]

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.[6] 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.[7][8][9][10][11][12][13]

References

[edit]
  1. ^ a b c ENSG00000274829 GRCh38: Ensembl release 89: ENSG00000140694, ENSG00000274829Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022685Ensembl, 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. ^ Buiting K, Körner C, Ulrich B, Wahle E, Horsthemke B (May 2000). "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. doi:10.1159/000015378. PMID 10640832. S2CID 28498478.
  6. ^ a b "Entrez Gene: PARN poly(A)-specific ribonuclease (deadenylation nuclease)".
  7. ^ Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N, Foster A, Mohammed S, Plagnol V, Vulliamy T, Dokal I (May 2015). "Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita". The Journal of Clinical Investigation. 125 (5): 2151–60. doi:10.1172/JCI78963. PMC 4463202. PMID 25893599.
  8. ^ Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y (November 2015). "Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)". Journal of Medical Genetics. 52 (11): 738–48. doi:10.1136/jmedgenet-2015-103292. PMID 26342108. S2CID 19822046.
  9. ^ Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK (May 2015). "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening". Nature Genetics. 47 (5): 512–7. doi:10.1038/ng.3278. PMC 4414891. PMID 25848748.
  10. ^ Shukla S, Schmidt JC, Goldfarb KC, Cech TR, Parker R (April 2016). "Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects". Nature Structural & Molecular Biology. 23 (4): 286–92. doi:10.1038/nsmb.3184. PMC 4830462. PMID 26950371.
  11. ^ Tseng CK, Wang HF, Burns AM, Schroeder MR, Gaspari M, Baumann P (December 2015). "Human Telomerase RNA Processing and Quality Control". Cell Reports. 13 (10): 2232–43. doi:10.1016/j.celrep.2015.10.075. PMID 26628367.
  12. ^ Nguyen D, Grenier St-Sauveur V, Bergeron D, Dupuis-Sandoval F, Scott MS, Bachand F (December 2015). "A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA". Cell Reports. 13 (10): 2244–57. doi:10.1016/j.celrep.2015.11.003. PMID 26628368.
  13. ^ Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S (December 2015). "Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component". Nature Genetics. 47 (12): 1482–8. doi:10.1038/ng.3423. PMC 4791094. PMID 26482878.

Further reading

[edit]