BMP-SMAD-ID promotes reprogramming to pluripotency by inhibiting p16/INK4A-dependent senescence

Research Highlight

Making the most of mutation

© Science Photo Library - STEVE GSCHMEISSNER/Brand X Pictures/Getty

© Science Photo Library - STEVE GSCHMEISSNER/Brand X Pictures/Getty

A disease-causing mutation has been shown to increase the efficiency of human stem cell generation, offering insight into the cellular reprogramming process.

An international team including researchers at Japan’s University of Tsukuba grew stem cell cultures using cells from patients with a genetic disorder in which fibrous tissues, such as muscle or tendon, transform into bone. The disorder has been linked with a mutation causing overactivation of a signalling pathway related to stem cell self-renewal.

The team also generated stem cells from healthy cells by introducing the mutation or artificially activating the signalling pathway during the early phases of the reprogramming process. With these cultures, they discovered that the signalling pathway activates genes which inhibit differentiation and suppress another gene related to cellular ageing.

In addition to improving our understanding of this disorder, the findings also demonstrate that stem cells derived from disease cells can shed light on cellular programming.

Supported content

  1. PNAS 113, 13057-13062 (2017). doi: 10.1073/pnas.1603668113
Institutions Share
Kyoto University, Japan 0.34
Gladstone Institutes, United States of America (USA) 0.30
University of Tsukuba, Japan 0.20
University of California, San Francisco (UCSF), United States of America (USA) 0.10
USC Children's Hospital Los Angeles (CHLA), United States of America (USA) 0.02
University of Southern California (USC), United States of America (USA) 0.02
Nagoya City University, Japan 0.02