Rfx6 directs islet formation and insulin production in mice and humans

Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y., Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Vanden Eijnden, Serge, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersely, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin and German, Michael S. (2010) Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463 7282: 775-780. doi:10.1038/nature08748

Author Smith, Stuart B.
Qu, Hui-Qi
Taleb, Nadine
Kishimoto, Nina Y.
Scheel, David W.
Lu, Yang
Patch, Ann-Marie
Grabs, Rosemary
Wang, Juehu
Lynn, Francis C.
Miyatsuka, Takeshi
Mitchell, John
Seerke, Rina
Désir, Julie
Vanden Eijnden, Serge
Abramowicz, Marc
Kacet, Nadine
Weill, Jacques
Renard, Marie-Ève
Gentile, Mattia
Hansen, Inger
Dewar, Ken
Hattersely, Andrew T.
Wang, Rennian
Wilson, Maria E.
Johnson, Jeffrey D.
Polychronakos, Constantin
German, Michael S.
Title Rfx6 directs islet formation and insulin production in mice and humans
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2010-02-11
Sub-type Article (original research)
DOI 10.1038/nature08748
Volume 463
Issue 7282
Start page 775
End page 780
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2011
Language eng
Formatted abstract
Insulin from the ß-cells of the pancreatic islets of Langerhans controls energy homeostasis in vertebrates, and its deficiency causes diabetes mellitus. During embryonic development, the transcription factor neurogenin 3 (Neurog3) initiates the differentiation of the ß-cells and other islet cell types from pancreatic endoderm, but the genetic program that subsequently completes this differentiation remains incompletely understood. Here we show that the transcription factor Rfx6 directs islet cell differentiation downstream of Neurog3. Mice lacking Rfx6 failed to generate any of the normal islet cell types except for pancreatic-polypeptide-producing cells. In human infants with a similar autosomal recessive syndrome of neonatal diabetes, genetic mapping and subsequent sequencing identified mutations in the human RFX6 gene. These studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans. Rfx6 could prove useful in efforts to generate ß-cells for patients with diabetes.
© 2010 Macmillan Publishers Limited. All rights reserved.
Keyword Insulin
Islet formation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 115 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 05 May 2011, 11:34:36 EST by Susan Allen on behalf of Institute for Molecular Bioscience