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Review ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.01103

Hedgehog signal and Genetic Disorders

 Noriaki Sasai1*,  Michinori Toriyama2* and Toru Kondo3*
  • 1Nara Institute of Science and Technology (NAIST), Japan
  • 2Kwansei Gakuin University, Japan
  • 3Graduate School of Medicine, Hokkaido University, Japan

The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and survival; establishment of the vertebrate body plan; and aging. These molecules play critical roles from embryogenesis to adult stages; therefore, alterations such as abnormal expression or mutations of the genes involved and their downstream factors cause a variety of genetic disorders at different stages. The Hh family involves many signaling mediators and functions through complex mechanisms, and achieving a comprehensive understanding of the entire signaling system is challenging.
This review discusses the signaling mediators of the Hh pathway and their functions at the cellular and organismal levels. We first focus on the roles of Hh signaling mediators in signal transduction at the cellular level and the networks formed by these factors. Then, we analyze the spatio-temporal pattern of expression of Hh pathway molecules in tissues and organs, and describe the phenotypes of mutant mice. Finally, we discuss the genetic disorders caused by malfunction of Hh signaling-related molecules in humans.

Keywords: sonic (Shh), Developm ent, genetic, mouse model, Disease

Received: 15 Apr 2019; Accepted: 11 Oct 2019.

Copyright: © 2019 Sasai, Toriyama and Kondo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Mx. Noriaki Sasai, Nara Institute of Science and Technology (NAIST), Ikoma, Japan, noriakisasai@bs.naist.jp
Mx. Michinori Toriyama, Kwansei Gakuin University, Nishinomiya, 662-8501, Hyōgo, Japan, toriyama@kwansei.ac.jp
Prof. Toru Kondo, Graduate School of Medicine, Hokkaido University, Sapporo, 060-8638, Hokkaidō, Japan, tkondo@igm.hokudai.ac.jp