NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Casey, Jillian P ^a,b   Støve, Svein I ^c   McGorrian, Catherine ^b,d   Galvin, Joseph ^d   Blenski, Marina ^c   Dunne, Aimee ^b   Ennis, Sean ^b   Brett, Francesca ^e   King, Mary D ^a,b   Arnesen, Thomas ^c,f   Lynch, Sally Ann ^a,b,g  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c UNIVERSITY OF BERGEN   (Norway)

^d MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^e BEAUMONT HOSPITAL   (Ireland)

^f HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^g OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

NAA10 PROTEIN, HUMAN; PEPTIDE ALPHA N ACETYLTRANSFERASE; PEPTIDE ALPHA N ACETYLTRANSFERASE A; PEPTIDE ALPHA N ACETYLTRANSFERASE E;

ADULT; EXOME; FEMALE; GENETICS; HELA CELL LINE; HUMAN; INTELLECTUAL IMPAIRMENT; LONG QT SYNDROME; MALE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR CELL LINE;

ADULT; CELL LINE, TUMOR; EXOME; FEMALE; HELA CELLS; HUMANS; INTELLECTUAL DISABILITY; LONG QT SYNDROME; MALE; N-TERMINAL ACETYLTRANSFERASE A; N-TERMINAL ACETYLTRANSFERASE E; N-TERMINAL ACETYLTRANSFERASES; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84946780985     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep16022     Document Type: Article

References (36)

1. Arnesen, T. et al. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc. Natl. Acad. Sci. USA 106, 8157-8162 (2009)
2. Jornvall, H. Acetylation of protein N-terminal amino groups structural observations on alpha-amino acetylated proteins. J. Theor. Biol. 55, 1-12 (1975)
3. Hwang, C. S., Shemorry, A. & Varshavsky, A. N-terminal acetylation of cellular proteins creates specific degradation signals. Science, 327, 973-977 (2010)
4. Shemorry, A., Hwang, C. S. & Varshavsky, A. Control of protein quality and stoichiometries by N-terminal acetylation and the N-end rule pathway. Mol. Cell. 50, 540-551 (2013)
5. Scott, D. C., Monda, J. K., Bennett, E. J., Harper, J. W. & Schulman, B. A. N-terminal acetylation acts as an avidity enhancer within an interconnected multiprotein complex. Science. 334, 674-678 (2011)
6. Setty, S. R., Strochlic, T. I., Tong, A. H., Boone, C. & Burd, C. G. Golgi targeting of ARF-like GTPase Arl3p requires its Nalphaacetylation and the integral membrane protein Sys1p. Nat. Cell Biol. 6, 414-419 (2004)
7. Behnia, R., Panic, B., Whyte, J. R. & Munro, S. Targeting of the Arf-like GTPase Arl3p to the Golgi requires N-terminal acetylation and the membrane protein Sys1p. Nat. Cell Biol. 6, 405-413 (2004)
8. Forte, G. M., Pool, M. R. & Stirling, C. J. N-terminal acetylation inhibits protein targeting to the endoplasmic reticulum. PLoS Biol. 9, e1001073 (2011)
9. Holmes, W. M., Mannakee, B. K., Gutenkunst, R. N. & Serio, T. R. Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein folding. Nat. Commun. 5, 4383 (2014)
10. Aksnes, H., Hole, K. & Arnesen, T. Molecular, cellular, and physiological significance of N-terminal acetylation. Int. Rev. Cell Mol. Biol. 316, 267-305 (2015)
11. Mullen, J. R. et al. Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast. EMBO J. 8, 2067-2075 (1989)
12. Arnesen, T. et al. Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. Biochem. J. 386, 433-443 (2005)
13. Rope, A. F. et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am. J. Hum. Genet. 89, 28-43 (2011)
14. Esmailpour, T. et al. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J. Med. Genet. 51, 185-196 (2014)
15. Popp, B. et al. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur. J. Hum. Genet. 23, 602-609 (2015)
16. Hu, H. et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol. Psychiatry. [Epub ahead of print] (2015)
17. Stocco dos Santos, R. C. et al. Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11. 3-Xq21. 3. Am. J. Med. Genet. A, 118A, 255-259 (2003)
18. Parra, M. et al. A retrospective genetic analysis of cases reported using an XLMR/XLID next-generation sequencing panel. Poster session presented at the American Society of Human Genetics, San Francisco, California, November 7, 2012
19. Tarpey, P. S. et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41, 535-543 (2009)
20. Cho, G. et al. Evidence that SIZN1 is a candidate X-linked mental retardation gene. Am. J. Med. Genet. A. 146A, 2644-2650 (2008)
21. Piton, A., Redin, C. & Mandel, J. L. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am. J. Hum. Genet., 93, 368-383 (2013)
22. Liszczak, G. et al. Molecular basis for N-terminal acetylation by the heterodimeric NatA complex. Nat. Struct. Mol. Biol. 20, 1098-1105 (2013)
23. Myklebust, L. M. et al. Hum. Mol. Genet. 24, 1956-1976 (2015)
24. Laperuta, C. et al. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. BMC Med. Genet. 8, 25 (2007)
25. Lynch, S. A. et al. Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay. Eur. J. Med. Genet. 55, 476-479 (2012)
26. Kalvik, T. V. & Arnesen, T. Protein N-terminal acetyltransferases in cancer. Oncogene. 32, 269-276 (2013)
27. Van Damme, P., StØve, S. I., Glomnes, N., Gevaert, K. & Arnesen, T. A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. Mol. Cell Proteomics. 13, 2031-2041 (2014)
28. Arnesen, T. et al. Characterization of hARD2, a processed hARD1 gene duplicate encoding a human protein N-? -acetyltransferase. BMC Biochem. 7, 13 (2006)
29. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 25, 1754-1760 (2009)
30. DePristo, M. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011)
31. Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010)
32. Purcell, S. et al. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. Am. J. Hum. Genet. 81, 559-575 (2007)
33. Van Damme, P. et al. Proteome-derived peptide libraries allow detailed analysis of the substrate specificities of N(alpha)- acetyltransferases and point to hNaa10p as the post-translational actin N(alpha)-acetyltransferase. Mol. Cell. Proteomics. 10, M110. 004580 (2011)
34. Thompson, P. R. et al. Regulation of the p300 HAT domain via a novel activation loop Nat. Struct. Mol. Biol. 11, 308-315 (2004)
35. Foyn, H. et al. Design, synthesis, and kinetic characterization of protein N-terminal acetyltransferase inhibitors. ACS Chem. Biol. 8, 1121-1127 (2013)
36. Evjenth R., Hole K., Ziegler M. & Lillehaug J. R. Application of reverse-phase HPLC to quantify oligopeptide acetylation eliminates interference from unspecific acetyl-CoA hydrolysis. BMC Proc. 3, S5 (2009)