Transcription factor Ptf1a in development, diseases and reprogramming

  • Kangxin JinEmail author
  • Mengqing XiangEmail author


The transcription factor Ptf1a is a crucial helix–loop–helix (bHLH) protein selectively expressed in the pancreas, retina, spinal cord, brain, and enteric nervous system. Ptf1a is preferably assembled into a transcription trimeric complex PTF1 with an E protein and Rbpj (or Rbpjl). In pancreatic development, Ptf1a is indispensable in controlling the expansion of multipotent progenitor cells as well as the specification and maintenance of the acinar cells. In neural tissues, Ptf1a is transiently expressed in the post-mitotic cells and specifies the inhibitory neuronal cell fates, mostly mediated by downstream genes such as Tfap2a/b and Prdm13. Mutations in the coding and non-coding regulatory sequences resulting in Ptf1a gain- or loss-of-function are associated with genetic diseases such as pancreatic and cerebellar agenesis in the rodent and human. Surprisingly, Ptf1a alone is sufficient to reprogram mouse or human fibroblasts into tripotential neural stem cells. Its pleiotropic functions in many biological processes remain to be deciphered in the future.


Pancreatic development Retinal development Transcriptional regulation Cell fate specification Acinar cells Inhibitory neurotransmitter GABAergic Glycinergic Glutamatergic Diabetes Somatic cell reprogramming Inheritable 



We thank Evelyn Shiang for help with the artwork and many online databases and resources for providing useful data and tools. Some of them are listed in the context. We thank all the colleagues working on related subjects and apologize for unintentional omission of many important findings. This work is supported in part by the National Key R&D Program of China (2017YFA0104100), National Basic Research Program (973 Program) of China (2015CB964600), National Natural Science Foundation of China (81670862 and 81721003), Science and Technology Planning Projects of Guangdong Province (2017B030314025), and the Fundamental Research Funds of the State Key Laboratory of Ophthalmology, Sun Yat-sen University to MX, and the National Natural Science Foundation of China (31871497) to KJ.


The authors declare no financial interests.


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© Springer Nature Switzerland AG 2018

Authors and Affiliations

  1. 1.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangzhouChina

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