Journalartikel

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis


AutorenlisteNousbeck, 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 Veröffentlichung2008

Seiten1114-1121

ZeitschriftAmerican Journal of Human Genetics

Bandnummer82

Heftnummer5

ISSN0002-9297

eISSN1537-6605

Open Access StatusGreen

DOI Linkhttps://doi.org/10.1016/j.ajhg.2008.03.014

VerlagCell 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-ZitierstilNousbeck, 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-ZitierstilNousbeck, 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



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