Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

Human Molecular Genetics

Volumn 23, Issue 15, 2014, Pages 4015-4023

  Bernkopf, Marie ^a   Webersinke, Gerald ^a   Tongsook, Chanakan ^b   Koyani, Chintan N ^c   Rafiq, Muhammad A ^d   Ayaz, Muhammad ^e   Müller, Doris ^f   Enzinger, Christian ^c   Aslam, Muhammad ^e   Naeem, Farooq ^e,g   Schmidt, Kurt ^h   Gruber, Karl ^h   Speicher, Michael R ^c   Malle, Ernst ^c   Macheroux, Peter ^b   Ayub, Muhammad ^e,g   Vincent, John B ^d,i,j   Windpassinger, Christian ^c   Duba, Hans Christoph ^f  

^a Krankenhaus der Barmherzigen Schwestern Wien Betriebsgesellschaft   (Austria)

^b GRAZ UNIVERSITY OF TECHNOLOGY   (Austria)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

^d CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^e Lahore Institute of Research and Development   (Pakistan)

^f KEPLER UNIVERSITY HOSPITAL   (Austria)

^g QUEEN S UNIVERSITY   (Canada)

^h UNIVERSITY OF GRAZ   (Austria)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSYLHOMOCYSTEINASE; BETA 2 MICROGLOBULIN; CROSS REACTING ANTIBODY; ISOPROTEIN; METHYLTRANSFERASE; METHYLTRANSFERASE LIKE 23; PROTEIN ISOFORM 1; PROTEIN ISOFORM 2; UNCLASSIFIED DRUG; METTL3 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ARTICLE; AUSTRIA; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; CELLULAR DISTRIBUTION; CHROMOSOME 17Q; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENZYME ACTIVE SITE; ENZYME PURIFICATION; EXON; FEMALE; GENE DELETION; GENE DISRUPTION; GENE SEQUENCE; GENETIC ASSOCIATION; GRAY MATTER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN METHYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; CHEMICAL STRUCTURE; CHILD; CHROMOSOME 17; CONSANGUINITY; EXOME; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE;

BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CONSANGUINITY; EXOME; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYLTRANSFERASES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 84903983099     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu115     Document Type: Article

References (23)

1. Maulik, P.K., Mascarenhas, M.N., Mathers, C.D., Dua, T. and Saxena, S. (2011) Prevalence of intellectual disability: a meta-analysis of population-based studies. Res. Dev. Disabil., 32, 419-436.
2. Kaufman, L., Ayub, M. and Vincent, J.B. (2010) The genetic basis of non-syndromic intellectual disability: a review. J. Neurodev. Disord., 2, 182-209.
3. Musante, L. and Ropers, H.H. (2014) Genetics of recessive cognitive disorders. Trends Genet., 30, 32-39.
4. Khan, M.A., Rafiq, M.A., Noor, A., Hussain, S., Flores, J.V., Rupp, V., Vincent, A.K., Malli, R., Ali, G., Khan, F.S. et al. (2012) Mutation in NSUN2, which encodes an RNA methlytransferase, causes autosomalrecessive intellectual disability. Am. J. Hum. Genet., 90, 856-863.
5. Abbasi-Moheb, L., Mertel, S., Gonsior, M., Nouri-Vahid, L., Kahrizi, K., Cirak, S., Wieczorek, D., Motazacker, M.M., Esmaeeli-Nieh, S., Cremer, K. et al. (2012) Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am. J. Hum. Genet., 90, 847-855.
6. Kleefstra, T., Brunner, H.G., Amiel, J., Oudakker, A.R., Nillesen, W.M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.P. et al. (2006) Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am. J. Hum. Genet., 79, 370-377.
7. Freude, K., Hoffmann, K., Jensen, L.-R., Delatycki, M.B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J.-P. et al. (2004) Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am. J. Hum. Genet., 75, 305-309.
8. Najmabadi, H., Hu, H., Garshasbi,M., Zemojtel, T., Abedini, S.S., Chen, W., Hosseini,M., Behjati, F., Haas, S., Jamali, P. et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature, 478, 57-63.
9. Budde, B.S., Namavar, Y., Barth, P.G., Poll-The, B.T., Nürnberg, G., Becker, C., van Ruissen, F., Weterman, M.A., Fluiter, K., te Beek, E.T. et al. (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat. Genet., 40, 1113-1118.
10. Barth, P.G. (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev., 15, 411-422.
11. Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., DiDonato,N. et al. (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380, 1674-1682.
12. Jamra, R.A., Wohlfart, S., Zweier, M., Uebe1, S., Priebe, L., Ekici, A., Giesebrecht, S., Abboud, A., Ayman, M., Khateeb, A., Fakher, M. et al. (2011) Homozygosity mapping in 64 Syrian consanguineous families with non-specific ID reveals 11 novel loci and high heterogeneity. Eur. J. Hum. Genet., 19, 1161-1166.
13. Sobel, E. and Lange, K. (1996) Descent graphs in pedigree analysis:applications to haplotyping, location scores, and marker sharing statistics. Am. J. Hum.Genet., 58, 1323-1337.
14. Wass, M.N., Kelley, L.A. and Sternberg, M.J. (2010) 3DLigandSite:predicting ligand-binding sites using similar structures. Nucleic Acids Res, 38, 469-473.
15. Cloutier, P., Lavallée-Adam, M., Faubert, D., Blanchette,M.and Coulombe, B. (2013) A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. PLoS Genet., 9, e1003210.
16. Reiff, R.E., Ali, B.R., Baron, B., Yu, T.W., Ben-Salem, S., Coulter, M.E., Schubert, C.R., Hill, R.S., Akawi, N.A., Al-Younes, B. et al. (2014) METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum. Mol. Genet. [Epub ahead of print].
17. Petrossian, T.C. and Clarke, S.G. (2011) Uncovering the human methyltransferasome. Mol. Cell. Proteom., 10, M110.000976.
18. Poleshko, A., Einarson, M.B., Shalginskikh, N., Zhang, R., Adams, P.D., Skalka, A.M. and Katz, R.A. (2010) Identification of a functional network of human epigenetic silencing factors. J. Biol. Chem., 285, 422-433.
19. Albert, H. and Helin, K. (2010) Histone methyltransferases in cancer. Semin. Cell Dev. Biol., 21, 209-220.
20. Feng, J. and Fan, G. (2009) The role of DNA methylation in the central nervous system and neuropsychiatric disorders. Int. Rev. Neurobiol., 89, 67-84.
21. Lin, M., Wei, L.J., Sellers, W.R., Lieberfarb, M., Wong, W.H. and Li, C. (2004) dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics, 20, 1233-1240.
22. Seelow, D., Schuelke, M., Hildebrandt, F. and Nürnberg, P. (2009) HomozygosityMapper-an interactive approach to homozygosity mapping. Nucleic Acids Res., 37, W593-W599.
23. Kelley, L.A. and Sternberg, M.J.E. (2009) Protein structure prediction on the web: a case study using the Phyre server. Nat. Protoc., 4, 363-371.