Erratum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome (Nature Communications (2015) 6 (7870) DOI: 10.1038/ncomms8870);Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Nature Communications

Volumn 6, Issue , 2015, Pages

  Thijssen, Peter E ^a   Ito, Yuya ^b   Grillo, Giacomo ^c   Wang, Jun ^a,u   Velasco, Guillaume ^c   Nitta, Hirohisa ^b   Unoki, Motoko ^b   Yoshihara, Minako ^b   Suyama, Mikita ^b   Sun, Yu ^a,v   Lemmers, Richard J L F ^a   De Greef, Jessica C ^a   Gennery, Andrew ^d,e   Picco, Paolo ^f   Kloeckener Gruissem, Barbara ^g,h   Güngör, Tayfun ⁱ   Reisli, Ismail ^j   Picard, Capucine ^k,l,m,n   Kebaili, Kamila ^o   Roquelaure, Bertrand ^p   Iwai, Tsuyako ^q   Kondo, Ikuko ^r   Kubota, Takeo ^s   Van Ostaijen Ten Dam, Monique M ^a   Van Tol, Maarten J D ^a   Weemaes, Corry ^t   Francastel, Claire ^c   Van Der Maarel, Silvère M ^a   Sasaki, Hiroyuki ^b   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KYUSHU UNIVERSITY   (Japan)

^c Université Paris Diderot Sorbonne Paris Cité   (France)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f G GASLINI INSTITUTE   (Italy)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h ETH ZURICH   (Switzerland)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^j NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m INSERM   (France)

ⁿ UNIVERSITÉ PARIS DESCARTES   (France)

^o HOSPICES CIVILS DE LYON   (France)

^p TIMONE HOSPITAL   (France)

^q SHIKOKU MEDICAL CENTER FOR CHILDREN AND ADULTS   (Japan)

^r Ooida Hospital   (Japan)

^s UNIVERSITY OF YAMANASHI   (Japan)

^t RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^u SOOCHOW UNIVERSITY   (China)

^v SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3B; PROTEIN; SATELLITE DNA; UNCLASSIFIED DRUG; ZBTB24 PROTEIN; CDCA7 PROTEIN, HUMAN; DNA HELICASE; HELLS PROTEIN, HUMAN; NUCLEAR PROTEIN;

DNA; ENZYME ACTIVITY; GENETICALLY MODIFIED ORGANISM; IMMUNOASSAY; MUTATION; PHENOTYPE;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CDCA7 GENE; CELL DIVISION; CENTROMERE; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; EMBRYO; FACE MALFORMATION; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HELLS GENE; HUMAN; IMMUNE DEFICIENCY; IMMUNODEFICIENCY CENTROMERIC INSTABILITY AND FACIAL ANOMALIES SYNDROME; MISSENSE MUTATION; MOUSE; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; OPEN READING FRAME; PATHOGENICITY; PATHOPHYSIOLOGY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; STOP CODON; ZINC FINGER MOTIF; ABNORMALITIES; ADOLESCENT; ADULT; CHILD; FACE; GENETICS; INFANT; MALE; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA HELICASES; FACE; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 84938151124     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12003     Document Type: Erratum

References (27)

1. Hagleitner, M. M. et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J. Med. Genet. 45, 93-99 (2008).
2. Weemaes, C. M. et al. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur. J. Hum. Genet. 21, 1219-1225 (2013).
3. Jeanpierre, M. et al. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum. Mol. Genet 2, 731-735 (1993).
4. Tiepolo, L. et al. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum. Genet. 51, 127-137 (1979).
5. de Greef, J. C. et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am. J. Hum. Genet. 88, 796-804 (2011).
6. Jiang, Y. L. et al. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum. Mutat. 25, 56-63 (2005).
7. Auclair, G., Guibert, S., Bender, A. & Weber, M. Ontogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse. Genome Biol. 15, 545 (2014).
8. Gowher, H. & Jeltsch, A. Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. J. Biol. Chem. 277, 20409-20414 (2002).
9. Moarefi, A. H. & Chedin, F. ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. J. Mol. Biol. 409, 758-772 (2011).
10. Nitta, H. et al. Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J. Hum. Genet. 58, 455-460 (2013).
11. Lee, S. U. & Maeda, T. POK/ZBTB proteins: an emerging family of proteins that regulate lymphoid development and function. Immunol. Rev. 247, 107-119 (2012).
12. Velasco, G. et al. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet. J. Rare. Dis. 9, 56 (2014).
13. Gill, R. M., Gabor, T. V., Couzens, A. L. & Scheid, M. P. The MYC-associated protein CDCA7 is phosphorylated by AKT to regulate MYC-dependent apoptosis and transformation. Mol. Cell Biol. 33, 498-513 (2013).
14. Guiu, J. et al. Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence. J. Exp. Med. 211, 2411-2423 (2014).
15. Chen, K., Ou, X. M., Wu, J. B. & Shih, J. C. Transcription factor E2F-associated phosphoprotein (EAPP), RAM2/CDCA7L/JPO2 (R1), and simian virus 40 promoter factor 1 (Sp1) cooperatively regulate glucocorticoid activation of monoamine oxidase B. Mol. Pharmacol. 79, 308-317 (2011).
16. Geiman, T. M. & Muegge, K. Lsh, an SNF2/helicase family member, is required for proliferation of mature T lymphocytes. Proc. Natl Acad. Sci. USA 97, 4772-4777 (2000).
17. Ren, J. et al. The ATP binding site of the chromatin remodeling homolog Lsh is required for nucleosome density and de novo DNA methylation at repeat sequences. Nucleic Acids Res. 43, 1444-1455 (2015).
18. Yu, W. et al. Genome-wide DNA methylation patterns in LSH mutant reveals de-repression of repeat elements and redundant epigenetic silencing pathways. Genome Res. 24, 1613-1623 (2014).
19. Zhu, H. et al. Lsh is involved in de novo methylation of DNA. EMBO J. 25, 335-345 (2006).
20. Ueda, Y. et al. Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. Development 133, 1183-1192 (2006).
21. Velasco, G. et al. Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues. Proc. Natl Acad. Sci. USA 107, 9281-9286 (2010).
22. Okano, M., Bell, D. W., Haber, D. A. & Li, E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99, 247-257 (1999).
23. Kloeckener-Gruissem, B., Betts, D. R., Zankl, A., Berger, W. & Gungor, T. A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am. J. Med. Genet. A 136, 31-37 (2005).
24. Kubota, T. et al. ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. Am. J. Med. Genet. A 129A, 290-293 (2004).
25. Li, H. & Durbin, R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595 (2010).
26. McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
27. Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).