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ADP-ribosylhydrolase 3

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ADPRS
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesADPRS, ARH3, ADP-ribosylhydrolase like 2, CONDSIAS, ADP-ribosylserine hydrolase, ADPRHL2
External IDsOMIM: 610624; MGI: 2140364; HomoloGene: 9863; GeneCards: ADPRS; OMA:ADPRS - orthologs
Orthologs
SpeciesHumanMouse
Entrez

54936

100206

Ensembl

ENSG00000116863

ENSMUSG00000042558

UniProt

Q9NX46

Q8CG72

RefSeq (mRNA)

NM_017825

NM_133883

RefSeq (protein)

NP_060295

NP_598644

Location (UCSC)Chr 1: 36.09 – 36.09 MbChr 4: 126.21 – 126.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

(ADP-ribosyl)hydrolase 3 (ARH3) is an enzyme that in humans is encoded by the ADPRHL2 gene (also called ADPRS[5]).[6][7][8] This enzyme reverses the proteins’ post-translational addition of ADP-ribose to serine residues as part of the DNA damage response[9][10] The enzyme is also known to cleave poly(ADP-ribose) polymers, 1''-O-acetyl-ADP-ribose and alpha-NAD+[10][11][12][7][13]

Role in disease

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Loss-of-function mutations in the ADPRHL2 gene result in a recently defined disorder called stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS; OMIM: 618170).[14][15][16][17][18][19] The CONDSIAS is an autosomal recessive disorder which its pertinent gene (ADPRHL2) is mapped on chromosome 1p35.3-p34.1. The phenotypes of this disorder have been reported as neurodegeneration, variable ataxia and seizures, tremor, nystagmus, balance problems, cerebellar, spinal cord and cerebral atrophy, hearing impairment and occasionally hearing loss, ptosis, ophthalmoplegia, dysarthria, muscle weakness, axonal neuropathy, dysmetria, and tongue fasciculation.[16][14] Symptoms and severity of the disorder appear to be different in patients and sometimes lead to early childhood death. In other words, although older patients present most of the above-mentioned symptoms, younger patients experience loss of developmental milestones and death in their early infancy.[15]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116863 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042558 – 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. ^ "Gene symbol report | HUGO Gene Nomenclature Committee".
  6. ^ Glowacki G, Braren R, Firner K, Nissen M, Kühl M, Reche P, et al. (July 2002). "The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse". Protein Science. 11 (7): 1657–70. doi:10.1110/ps.0200602. PMC 2373659. PMID 12070318.
  7. ^ a b Oka S, Kato J, Moss J (January 2006). "Identification and characterization of a mammalian 39-kDa poly(ADP-ribose) glycohydrolase". The Journal of Biological Chemistry. 281 (2): 705–13. doi:10.1074/jbc.M510290200. PMID 16278211.
  8. ^ "Entrez Gene: ADPRHL2 ADP-ribosylhydrolase like 2".
  9. ^ Fontana P, Bonfiglio JJ, Palazzo L, Bartlett E, Matic I, Ahel I (June 2017). "Serine ADP-ribosylation reversal by the hydrolase ARH3". eLife. 6. doi:10.7554/eLife.28533. PMC 5552275. PMID 28650317.
  10. ^ a b Rack JG, Palazzo L, Ahel I (March 2020). "(ADP-ribosyl)hydrolases: structure, function, and biology". Genes & Development. 34 (5–6): 263–284. doi:10.1101/gad.334631.119. PMC 7050489. PMID 32029451.
  11. ^ Stevens LA, Kato J, Kasamatsu A, Oda H, Lee DY, Moss J (December 2019). "The ARH and Macrodomain Families of α-ADP-ribose-acceptor Hydrolases Catalyze α-NAD+ Hydrolysis". ACS Chemical Biology. 14 (12): 2576–2584. doi:10.1021/acschembio.9b00429. PMC 8388552. PMID 31599159.
  12. ^ Ono T, Kasamatsu A, Oka S, Moss J (November 2006). "The 39-kDa poly(ADP-ribose) glycohydrolase ARH3 hydrolyzes O-acetyl-ADP-ribose, a product of the Sir2 family of acetyl-histone deacetylases". Proceedings of the National Academy of Sciences of the United States of America. 103 (45): 16687–91. Bibcode:2006PNAS..10316687O. doi:10.1073/pnas.0607911103. PMC 1636516. PMID 17075046.
  13. ^ Rack JG, Liu Q, Zorzini V, Voorneveld J, Ariza A, Honarmand Ebrahimi K, et al. (July 2021). "Mechanistic insights into the three steps of poly(ADP-ribosylation) reversal". Nature Communications. 12 (1): 4581. Bibcode:2021NatCo..12.4581R. doi:10.1038/s41467-021-24723-3. PMC 8319183. PMID 34321462.
  14. ^ a b Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, et al. (September 2018). "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome". American Journal of Human Genetics. 103 (3): 431–439. doi:10.1016/j.ajhg.2018.07.010. PMC 6128219. PMID 30100084.
  15. ^ a b Aryan H, Razmara E, Farhud D, Zarif-Yeganeh M, Zokaei S, Hassani SA, et al. (August 2020). "Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report". BMC Neurology. 20 (1): 291. doi:10.1186/s12883-020-01873-3. PMC 7397971. PMID 32746785.
  16. ^ a b Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, et al. (November 2018). "Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy". American Journal of Human Genetics. 103 (5): 817–825. doi:10.1016/j.ajhg.2018.10.005. PMC 6218634. PMID 30401461.
  17. ^ Beijer D, Agnew T, Rack JG, Prokhorova E, Deconinck T, Ceulemans B, et al. (November 2021). "Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response". Life Science Alliance. 4 (11): e202101057. doi:10.26508/lsa.202101057. PMC 8424258. PMID 34479984.
  18. ^ Mishra B, Fatima S, Agarwal A, Radhakrishnan DM, Garg A, Srivastava AK (January 2021). "Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS)". Movement Disorders Clinical Practice. 8 (1): 156–158. doi:10.1002/mdc3.13125. PMC 7780941. PMID 33426173.
  19. ^ Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, et al. (July 2020). "Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair". Nature Communications. 11 (1): 3391. Bibcode:2020NatCo..11.3391H. doi:10.1038/s41467-020-17069-9. PMC 7341855. PMID 32636369.
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Further reading

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