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

Nationallizenz
In: Nature Genetics   ;  25 ,  3  ;  357-361  ;  2000
  • ISSN:
  • Aufsatz (Zeitschrift)  /  Elektronische Ressource

Wie erhalte ich diesen Titel?

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2×10−6 (ref. 2) in the Finns. We have previously identified a shared 153-kb ancestor haplotype in all Finnish disease alleles between markers D19S1175 and D19S608 on chromosome 19q13.1 (refs 5,6). Here we characterize the molecular defect in PLOSL by identifying one large deletion in all Finnish PLOSL alleles and another mutation in a Japanese patient, both representing loss-of-function mutations, in the gene encoding TYRO protein tyrosine kinase binding protein (TYROBP; formerly DAP12). TYROBP is a transmembrane protein that has been recognized as a key activating signal transduction element in natural killer (NK) cells. On the plasma membrane of NK cells, TYROBP associates with activating receptors recognizing major histocompatibility complex (MHC) class I molecules. No abnormalities in NK cell function were detected in PLOSL patients homozygous for a null allele of TYROBP.

Inhaltsverzeichnis – Band 25, Ausgabe 3

Zeige alle Jahrgänge und Ausgaben

Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.

243
A focus on function
| 2000
245
Restoration of compact discs
Sakmar, Thomas P | 2000
246
A look at linkage disequilibrium
Boehnke, Michael | 2000
248
Meiotic machinations
Keeney, Scott | 2000
248
The labyrinthine placenta
Rinkenberger, Julie / Werb, Zena | 2000
251
Touching base
| 2000
253
Eugenics—evolutionary nonsense?
Brosius, Jürgen / Kreitman, Martin | 2000
254
Hepatocyte migration during liver development requires Prox1
Sosa-Pineda, Beatriz / Wigle, Jeffrey T. / Oliver, Guillermo | 2000
255
Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning
Steinborn, Ralf / Schinogl, Pamela / Zakhartchenko, Valeri / Achmann, Roland / Schernthaner, Wolfgang / Stojkovic, Miodrag / Wolf, Eckhard / Müller, Mathias / Brem, Gottfried | 2000
257
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
Molday, Laurie L. / Rabin, Arnold R. / Molday, Robert S. | 2000
259
Genetic testing and quality control in diagnostic laboratories
Dequeker, Elisabeth / Cassiman, Jean-Jacques | 2000
261
DNA property rites
van Ommen, Gertjan B. | 2000
263
Mitotic replication initiation proteins are not required for pre-meiotic S phase
Forsburg, Susan L. / Hodson, Jeffrey A. | 2000
269
DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci
Rountree, Michael R. / Bachman, Kurtis E. / Baylin, Stephen B. | 2000
279
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner
Galloway, Susan M. / McNatty, Kenneth P. / Cambridge, Lisa M. / Laitinen, Mika P.E. / Juengel, Jennifer L. / Jokiranta, T. Sakari / McLaren, Robert J. / Luiro, Kaisu / Dodds, Ken G. / Montgomery, Grant W. et al. | 2000
284
Social amnesia in mice lacking the oxytocin gene
Ferguson, Jennifer N. / Young, Larry J. / Hearn, Elizabeth F. / Matzuk, Martin M. / Insel, Thomas R. / Winslow, James T. | 2000
289
Genetic basis of total colourblindness among the Pingelapese islanders
Sundin, Olof H. / Yang, Jun-Ming / Li, Yingying / Zhu, Danping / Hurd, Jane N. / Mitchell, Thomas N. / Silva, Eduardo D. / Maumenee, Irene Hussels | 2000
294
Gene-expression profile of the ageing brain in mice
Lee, Cheol-Koo / Weindruch, Richard / Prolla, Tomas A. | 2000
298
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Avela, Kristiina / Lipsanen-Nyman, Marita / Idänheimo, Niina / Seemanová, Eva / Rosengren, Sally / Mäkelä, Tomi P. / Perheentupa, Jaakko / Chapelle, Albert de la / Lehesjoki, Anna-Elina | 2000
302
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
Shimura, Hideki / Hattori, Nobutaka / Kubo, Shin-ichiro / Mizuno, Yoshikuni / Asakawa, Shuichi / Minoshima, Shinsei / Shimizu, Nobuyoshi / Iwai, Kazuhiro / Chiba, Tomoki / Tanaka, Keiji et al. | 2000
306
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
Ali, Robin R. / Sarra, Gian-Marco / Stephens, Clare / Alwis, Mahesh de / Bainbridge, James W.B. / Munro, Peter M. / Fauser, Sascha / Reichel, Martin B. / Kinnon, Christine / Hunt, David M. et al. | 2000
311
The glial cells missing-1 protein is essential for branching morphogenesis in the chorioallantoic placenta
Anson-Cartwright, Lynn / Dawson, Kerri / Holmyard, Doug / Fisher, Susan J. / Lazzarini, Robert A. / Cross, James C. | 2000
315
Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3
Dammann, Reinhard / Li, Chun / Yoon, Jung-Hoon / Chin, Philip L. / Bates, Steven / Pfeifer, Gerd P. | 2000
320
The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes
Eaves, Iain A. / Merriman, Tony R. / Barber, Rachael A. / Nutland, Sarah / Tuomilehto-Wolf, Eva / Tuomilehto, Jaakko / Cucca, Francesco / Todd, John A. | 2000
324
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
Taillon-Miller, Patricia / Bauer-Sardiña, Irma / Saccone, Nancy L. / Putzel, Jenna / Laitinen, Tarja / Cao, Antonio / Kere, Juha / Pilia, Giuseppe / Rice, John P. / Kwok, Pui-Yan | 2000
329
Syndecan-1 is required for Wnt-1-induced mammary tumorigenesis in mice
Alexander, Caroline M. / Reichsman, Frieda / Hinkes, Michael T. / Lincecum, John / Becker, Klaus A. / Cumberledge, Susan / Bernfield, Merton | 2000
333
Widespread aneuploidy revealed by DNA microarray expression profiling
Hughes, Timothy R. / Roberts, Christopher J. / Dai, Hongyue / Jones, Allan R. / Meyer, Michael R. / Slade, David / Burchard, Julja / Dow, Sally / Ward, Teresa R. / Kidd, Matthew J. et al. | 2000
338
DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters
Robertson, Keith D. / Ait-Si-Ali, Slimane / Yokochi, Tomoki / Wade, Paul A. / Jones, Peter L. / Wolffe, Alan P. | 2000
343
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Frattini, Annalisa / Orchard, Paul J. / Sobacchi, Cristina / Giliani, Silvia / Abinun, Mario / Mattsson, Jan P. / Keeling, David J. / Andersson, Ann-Katrin / Wallbrandt, Pia / Zecca, Luigi et al. | 2000
347
Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres
Zhu, Xu-Dong / Küster, Bernhard / Mann, Matthias / Petrini, John H.J. / Lange, Titia de | 2000
353
A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2
Svensson, Eric C. / Huggins, Gordon S. / Lin, Hua / Clendenin, Cynthia / Jiang, Fang / Tufts, Rachel / Dardik, Fred B. / Leiden, Jeffrey M. | 2000
357
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
Paloneva, Juha / Kestilä, Marjo / Wu, Jun / Salminen, Antti / Böhling, Tom / Ruotsalainen, Vesa / Hakola, Panu / Bakker, Alexander B.H. / Phillips, Joseph H. / Pekkarinen, Petra et al. | 2000