Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

Nature Genetics

Volumn 25, Issue 3, 2000, Pages 357-361

  Paloneva, Juha ^a,b   Kestilä, Marjo ^c   Wu, Jun ^d   Salminen, Antti ^c   Böhling, Tom ^c   Ruotsalainen, Vesa ^e   Hakola, Panu ^f   Bakker, Alexander B H ^d   Phillips, Joseph H ^g   Pekkarinen, Petra ^a   Lanier, Lewis L ^d   Timonen, Tuomo ^c   Peltonen, Leena ^a,b  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF OULU   (Finland)

^f UNIVERSITY OF EASTERN FINLAND   (Finland)

^g MERCK RESEARCH LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; MEMBRANE PROTEIN; PROTEIN TYROSINE KINASE;

ALLELE; ARTICLE; BONE CYST; CONTROLLED STUDY; GENE AMPLIFICATION; GENE DELETION; GENE FUNCTION; GENE LOCATION; GENE LOSS; GENE MUTATION; HUMAN; HUMAN CELL; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PRESENILE DEMENTIA; PRIORITY JOURNAL;

ADULT; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; BASE SEQUENCE; BONE CYSTS; DNA, COMPLEMENTARY; FINLAND; HUMANS; JAPAN; KILLER CELLS, NATURAL; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS; RECEPTORS, IMMUNOLOGIC; SEQUENCE DELETION;

EID: 0033945864     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/77153     Document Type: Article

References (30)

1. Hakola, H.P.A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia, Acta Psychiatr. Scand. Suppl. 232, 1-173 (1972).
2. Hakola, H.P.A. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). A neuropsychiatric follow-up study. (monograph 17) in Monographs of Psychiatria Fennica (eds Henriksson, M., Huttunen, M., Kuoppasalmi, K., Lindfors, O. & Lönnqvist, J.) 1-114 (Foundation for Psychiatric Research in Finland, Helsinki, 1990).
3. Verloes, A. et al. Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia. J. Med. Genet. 34, 753-757 (1997).
4. Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 8, 1913-1923 (1999).
5. Pekkarinen, P. et al. Assignment of the locus for PLOSL, a frontal-lobe dementia with bone cysts, to 19q13. Am. J. Hum. Genet. 62, 362-372 (1998).
6. Pekkarinen, P. et al. Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. Genomics 54, 307-315 (1998).
7. Lanier, L.L., Corliss, B.C., Wu, J., Leong, C. & Phillips, J.H. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. Nature 391, 703-707 (1998).
8. Colonna, M. Unmasking the killer's accompliance. Nature 391, 542-643 (1998).
9. Campbell, K.S. & Colonna, M. DAP12: a key accessory protein for relaying signals by natural killer cell receptors. Int. J. Biochem. Cell Biol. 31, 631-636 (1999).
10. Lenkkeri, U. et al. Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1. Hum. Genet. 102, 192-196 (1998).
11. Wu, J. et al. An activating immunoreceptor complex formed by NKG2D and DAP10. Science 258, 730-732 (1999).
12. Chang, C.W. et al. KAP10, a novel transmembrane adapter protein genetically linked to DAP12 but with unique signaling properties. J. Immunol. 163, 4651-4654 (1999).
13. Kestila, M. et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575-582 (1998).
14. Nylander, P.-O., Drugge, U., Holmgren, G. & Adolfsson, R. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a geneological study of Swedish families of probable Finnish background. Clin. Genet. 50, 353-357 (1996).
15. McVicar, D.W. et al. DAP12-mediated signal transduction in natural killer cells. A dominant role for the Syk protein-tyrosine kinase. J. Biol. Chem. 273, 32934-32942 (1998).
16. Bakker, A.B.H., Baker, E., Sutherland, G.R., Phillips, J.H. & Lanier L.L. Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. Proc. Natl Acad. Sci. USA 96, 9792-9796 (1999).
17. Lanier, L.L., Corliss, B., Wu, J. & Phillips, J.H. Association of DAP12 with activating CD94/NKG2C NK cell receptors. Immunity 8, 693-701 (1998).
18. Smith, K.M., Wu, J., Bakker, A.B., Phillips, J.H. & Lanier, L.L. Ly-49D and Ly-49H associates with mouse DAP12 and form activating receptors. J. Immunol. 161, 7-10 (1998).
19. Edvardsen, P., Halvorsen, T.B. & Nesse, O. Lipomembranous osteodysplasia: a case report. Int. Orthop. 7, 99-103 (1983).
20. Dietrich, J., Cella, M., Seiffert, M., Bühring, H.-J. & Colonna, M. Signal-regulatory protein β1 is a DAP12-associated activating receptor expressed in myeloid cells. J. Immunol. 164, 9-12 (2000).
21. Abramsky, O. et al. A Dissection and Tissue Culture Manual of the Nervous System (eds Shahar, A., de Vellis, J., Vernadakis, A. & Haber, B.) 1-371 (Alan R. Liss, New York, 1989).
22. Rolstad, B. & Seaman, W.E. Natural killer cells and recognition of MHC class I molecules: new perspectives and challenges in immunology. Scand. J. Immunol. 47, 412-425 (1998).
23. Cuadros, M.A. & Navascues, J. The origin and differentiation of microglial cells during development. Prog. Neurobiol. 56, 173-189 (1998).
24. Heymann, D., Guicheux, J., Gouin, F., Passuti, N. & Daculsi, G. Cytokines, growth factors and osteoclasts. Cytokine 10, 155-168 (1998).
25. Harris, N.L. Genotator: a workbench for sequence annotation. Genome Res. 7, 754-762 (1997).
26. Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
27. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning, A Laboratory Manual (ed. Nolan, C) (Cold Spring Harbor Laboratory Press, New York, 1989).
28. Nasu, T., Tsukahara, Y. & Terayama, K. A lipid metabolic disease - "membranous lipodystrophy" - an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol. Jpn. 23, 539-558 (1973).
29. Mäkelä, P., Järvi, O., Hakola, P. & Virtama, P. Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Skeletal Radiol. 8, 51-54 (1982).
30. Kalimo, H., Sourander, P., Järvi, O. & Hakola, P. Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol. Scand. 89, 353-361 (1994).