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Terkelsen T, Brasch-Andersen C, Illum N, et al. Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions. Clin Genet. 2021;doi: 10.1111/cge.14083.
Terkelsen, T., Brasch-Andersen, C., Illum, N., Busa, T., Missirian, C., Chandler, K., Holden, S. T., Jensen, U. B., & Fagerberg, C. R. (2021). Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions. Clinical genetics, . https://doi.org/10.1111/cge.14083
Terkelsen, Thorkild, et al. "Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions." Clinical genetics vol. (2021). doi: https://doi.org/10.1111/cge.14083
Terkelsen T, Brasch-Andersen C, Illum N, Busa T, Missirian C, Chandler K, Holden ST, Jensen UB, Fagerberg CR. Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions. Clin Genet. 2021 Oct 28; doi: 10.1111/cge.14083. Epub 2021 Oct 28. PMID: 34708403.
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Clin Genet. 2021 Oct 28; doi: 10.1111/cge.14083. Epub 2021 Oct 28.

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Clinical genetics

Thorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, Tiffany Busa, Chantal Missirian, Kate Chandler, Simon T Holden, Uffe Birk Jensen, Christina R Fagerberg

Affiliations

  1. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  2. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  3. Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
  4. H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  5. Département de Génétique Médicale, CHU de Marseille-Hôpital de la Timone, Marseille, France.
  6. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  7. Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
  8. Affiliated Member of European Reference Network, ERN-ITHACA.

PMID: 34708403 DOI: 10.1111/cge.14083

Abstract

The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m

© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Keywords: YTHDF3 protein; chromosome deletion; developmental delay; heterozygote; human; intellectual disability

References

  1. Desrosiers R, Friderici K, Rottman F. Identification of methylated nucleosides in messenger RNA from Novikoff hepatoma cells. Proc Natl Acad Sci U S A. 1974;71(10):3971-3975. - PubMed
  2. Wang X, He C. Reading RNA methylation codes through methyl-specific binding proteins. RNA Biol. 2014;11(6):669-672. - PubMed
  3. Patil DP, Pickering BF, Jaffrey SR. Reading m(6)A in the transcriptome: m(6)A-binding proteins. Trends Cell Biol. 2018;28(2):113-127. - PubMed
  4. Wang X, Zhao BS, Roundtree IA, et al. N(6)-methyladenosine modulates messenger RNA translation efficiency. Cell. 2015;161(6):1388-1399. - PubMed
  5. Wang X, Lu Z, Gomez A, et al. N6-methyladenosine-dependent regulation of messenger RNA stability. Nature. 2014;505(7481):117-120. - PubMed
  6. Shi H, Wang X, Lu Z, et al. YTHDF3 facilitates translation and decay of N(6)-methyladenosine-modified RNA. Cell Res. 2017;27(3):315-328. - PubMed
  7. Li A, Chen YS, Ping XL, et al. Cytoplasmic m(6)A reader YTHDF3 promotes mRNA translation. Cell Res. 2017;27(3):444-447. - PubMed
  8. Zaccara S, Jaffrey SR. A unified model for the function of YTHDF proteins in regulating m(6)A-modified mRNA. Cell. 2020;181:1582-1595. - PubMed
  9. Lasman L, Krupalnik V, Viukov S, et al. Context-dependent functional compensation between Ythdf m(6)A reader proteins. Genes Dev. 2020;34(19-20):1373-1391. - PubMed
  10. Dermentzaki G, Lotti F. New insights on the role of N (6)-methyladenosine RNA methylation in the physiology and pathology of the nervous system. Front Mol Biosci. 2020;7:555372. - PubMed
  11. Firth HV, Richards SM, Bevan AP, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Am J Hum Genet. 2009;84(4):524-533. - PubMed
  12. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141456 humans. Nature. 2020;581(7809):434-443. - PubMed
  13. Kent WJ, Sugnet CW, Furey TS, et al. The human genome browser at UCSC. Genome Res. 2002;12(6):996-1006. - PubMed
  14. Chou JH, Roumiantsev S, Singh R. PediTools electronic growth chart calculators: applications in clinical care, research, and quality improvement. J Med Internet Res. 2020;22(1):e16204. - PubMed
  15. Roche AF, Mukherjee D, Guo SM, et al. Head circumference reference data: birth to 18 years. Pediatrics. 1987;79(5):706-712. - PubMed
  16. Coe BP, Stessman HAF, Sulovari A, et al. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Nat Genet. 2019;51(1):106-116. - PubMed
  17. Ye XC, Pegado V, Patel MS, Wasserman WW. Strabismus genetics across a spectrum of eye misalignment disorders. Clin Genet. 2014;86(2):103-111. - PubMed
  18. Zhang F, Kang Y, Wang M, et al. Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets. Hum Mol Genet. 2018;27(22):3936-3950. - PubMed
  19. Tarpey PS, Raymond FL, Nguyen LS, et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007;39(9):1127-1133. - PubMed
  20. Wang Q, Moore MJ, Adelmant G, Marto JA, Silver PA. PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth. Genes Dev. 2013;27(6):615-626. - PubMed
  21. Fritzsche R, Karra D, Bennett KL, et al. Interactome of two diverse RNA granules links mRNA localization to translational repression in neurons. Cell Rep. 2013;5(6):1749-1762. - PubMed
  22. Fuller ZL, Berg JJ, Mostafavi H, Sella G, Przeworski M. Measuring intolerance to mutation in human genetics. Nat Genet. 2019;51(5):772-776. - PubMed
  23. Ziegler A, Colin E, Goudenège D, Bonneau D. A snapshot of some pLI score pitfalls. Hum Mutat. 2019;40(7):839-841. - PubMed
  24. Joshi PS, Molyneaux BJ, Feng L, Xie X, Macklis JD, Gan L. Bhlhb5 regulates the postmitotic acquisition of area identities in layers II-V of the developing neocortex. Neuron. 2008;60(2):258-272. - PubMed
  25. Gialluisi A, Andlauer TFM, Mirza-Schreiber N, et al. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Transl Psychiatry. 2019;9(1):77. - PubMed
  26. Lupianez DG, Kraft K, Heinrich V, et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015;161(5):1012-1025. - PubMed
  27. Zhuang M, Li X, Zhu J, et al. The m6A reader YTHDF1 regulates axon guidance through translational control of Robo3.1 expression. Nucleic Acids Res. 2019;47(9):4765-4777. - PubMed
  28. Li M, Zhao X, Wang W, et al. Ythdf2-mediated m(6)A mRNA clearance modulates neural development in mice. Genome Biol. 2018;19(1):69. - PubMed

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