Journalartikel
Autorenliste: Nousbeck, J; Spiegel, R; Ishida-Yamamoto, A; Indelman, M; Shani-Adir, A; Adir, N; Lipkin, E; Bercovici, S; Geiger, D; van Steensel, MA; Steijlen, PM; Bergman, R; Bindereif, A; Choder, M; Shalev, S; Sprecher, E
Jahr der Veröffentlichung: 2008
Seiten: 1114-1121
Zeitschrift: American Journal of Human Genetics
Bandnummer: 82
Heftnummer: 5
ISSN: 0002-9297
eISSN: 1537-6605
Open Access Status: Green
DOI Link: https://doi.org/10.1016/j.ajhg.2008.03.014
Verlag: Cell Press
Abstract:
Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.
Zitierstile
Harvard-Zitierstil: Nousbeck, J., Spiegel, R., Ishida-Yamamoto, A., Indelman, M., Shani-Adir, A., Adir, N., et al. (2008) Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis, American Journal of Human Genetics, 82(5), pp. 1114-1121. https://doi.org/10.1016/j.ajhg.2008.03.014
APA-Zitierstil: Nousbeck, J., Spiegel, R., Ishida-Yamamoto, A., Indelman, M., Shani-Adir, A., Adir, N., Lipkin, E., Bercovici, S., Geiger, D., van Steensel, M., Steijlen, P., Bergman, R., Bindereif, A., Choder, M., Shalev, S., & Sprecher, E. (2008). Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. American Journal of Human Genetics. 82(5), 1114-1121. https://doi.org/10.1016/j.ajhg.2008.03.014