Journal article

Publication year: 2008

Pages: 1114-1121

Journal: American Journal of Human Genetics

Volume number: 82

Issue number: 5

ISSN: 0002-9297

eISSN: 1537-6605

Open access status: Green

DOI Link: https://doi.org/10.1016/j.ajhg.2008.03.014

Publisher: 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.

Harvard Citation style: 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 Citation style: 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