Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Nature Genetics

Volumn 41, Issue 1, 2009, Pages 106-111

  Lagresle Peyrou, Chantal ^a,b,c   Six, Emmanuelle M ^a,b   Picard, Capucine ^a,b,d,e   Rieux Laucat, Frédéric ^a,b   Michel, Vincent ^f   Ditadi, Andrea ^a,e   Chappedelaine, Corinne Demerens De ^a,b   Morillon, Estelle ^a,b   Valensi, Françoise ^a   Simon Stoos, Karen L ^g   Mullikin, James C ^g   Noroski, Lenora M ^h   Besse, Céline ⁱ   Wulffraat, Nicolas M ^j   Ferster, Alina ^k   Abecasis, Manuel M ^l   Calvo, Fabien ^b   Petit, Christine ^f,m   Candotti, Fabio ^g   Abel, Laurent ^b,e   Fischer, Alain ^a,b,d   Cavazzana Calvo, Marina ^a,b,d   more..

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CNRS   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e IMAGINE INSTITUTE   (France)

^f Institut Pasteur   (France)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^k HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^l INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^m l'alimentation et l'Environnement   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE KINASE; ADENYLATE KINASE 2; UNCLASSIFIED DRUG;

ADENYLATE KINASE 2 DEFICIENCY; ARTICLE; BONE MARROW CELL; CELL DIFFERENTIATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ENZYME LOCALIZATION; GENE MUTATION; HEMATOPOIESIS; HUMAN; HUMAN CELL; INNER EAR; NEUTROPHIL; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETICULAR DYSGENESIS; SEVERE COMBINED IMMUNODEFICIENCY; STRIA VASCULARIS;

EID: 58149144707     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.278     Document Type: Article

References (26)

1. De Vall, O. & Seyneheve, V. Reticular dysgenesis. Lancet 2, 1123-1125 (1959).
2. Heltzer, M.L., Paessler, M., Raffini, L., Bunin, N. & Perez, E.E. Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: threeyear follow-up. J. Allergy Clin. Immunol. 120, 950-952 (2007).
3. Reubsaet, L.L., Boelens, J.J., Rademaker, C., Smal, J. & Wulffraat, N.M. Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis. Bone Marrow Transplant. 39, 307-308 (2007).
4. Bujan, W., Ferster, A., Sariban, E. & Friedrich, W. Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. Blood 82, 1684 (1993).
5. Antoine, C. et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 361, 553-560 (2003).
6. Noma, T., Song, S., Yoon, Y.S., Tanaka, S. & Nakazawa, A. cDNA cloning and tissuespecific expression of the gene encoding human adenylate kinase isozyme 2. Biochim. Biophys. Acta 1395, 34-39 (1998).
7. Levinsky, R.J. & Tiedeman, K. Successful bone-marrow transplantation for reticular dysgenesis. Lancet 1, 671-672 (1983).
8. Lee, H.J. et al. AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. Nat. Cell Biol. 9, 1303-1310 (2007).
9. Noma, T. Dynamics of nucleotide metabolism as a supporter of life phenomena. J. Med. Invest. 52, 127-136 (2005).
10. Cohen-Salmon, M. et al. Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. Proc. Natl. Acad. Sci. USA 104, 6229-6234 (2007).
11. Wangemann, P. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential. J. Physiol. (Lond.) 576, 11-21 (2006).
12. Heine, P., Braun, N., Heilbronn, A. & Zimmermann, H. Functional characterization of rat ecto-ATPase and ecto-ATP diphosphohydrolase after heterologous expression in CHO cells. Eur. J. Biochem. 262, 102-107 (1999).
13. Klein, C. et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat. Genet. 39, 86-92 (2007).
14. Chao, J.R. et al. Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons. Nature 452, 98-102 (2008).
15. Carlsson, G. & Fasth, A. Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review. Acta Paediatr. 90, 757-764 (2001).
16. Kohler, C. et al. Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis. FEBS Lett. 447, 10-12 (1999).
17. Munoz-Pinedo, C. et al. Different mitochondrial intermembrane space proteins are released during apoptosis in a manner that is coordinately initiated but can vary in duration. Proc. Natl. Acad. Sci. USA 103, 11573-11578 (2006).
18. Morison, I.M. et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat. Genet. 40, 387-389 (2008).
19. Hao, Z. et al. Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis. Cell 121, 579-591 (2005).
20. Solary, E., Giordanetto, F. & Kroemer, G. Re-examining the role of cytochrome c in cell death. Nat. Genet. 40, 379-380 (2008).
21. Lander, E.S. & Botstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570 (1987).
22. Six, E.M. et al. A human postnatal lymphoid progenitor capable of circulating and seeding the thymus. J. Exp. Med. 204, 3085-3093 (2007).
23. Nicolas, N. et al. A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. J. Exp. Med. 188, 627-634 (1998).
24. Tosato, G. & Cohen, J.I. Generation of Epstein-Barr Virus (EBV)-immortalized B cell lines. Curr. Protoc. Immunol. Chapter 7, Unit 7.22 (2007).
25. Peters, U.R. et al. Distinct expression patterns of the p53-homologue p73 in malignant and normal hematopoiesis assessed by a novel real-time reverse transcription-polymerase chain reaction assay and protein analysis. Cancer Res. 59, 4233-4236 (1999).
26. Bustin, S.A. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays. J. Mol. Endocrinol. 25, 169-193 (2000).