Thermosensory and mechanosensory perception in human genetic disease.


Journal Article (Review)

Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have identified some of the key molecules necessary for peripheral innervation and function. These findings have, in turn, yielded new insights into the developmental networks and homeostatic mechanisms necessary for the transformation of external stimuli into interpretable electrical impulses. In this review, we will summarize and discuss some of the genes/proteins implicated in two particular aspects of sensory perception, thermosensation and mechanosensation, highlighting pathways whose perturbation leads to both isolated and syndromic sensory deficits.

Full Text

Cited Authors

  • Tan, PL; Katsanis, N

Published Date

  • October 15, 2009

Published In

Volume / Issue

  • 18 / R2

Start / End Page

  • R146 - R155

PubMed ID

  • 19808790

Pubmed Central ID

  • 19808790

Electronic International Standard Serial Number (EISSN)

  • 1460-2083

Digital Object Identifier (DOI)

  • 10.1093/hmg/ddp412


  • eng

Conference Location

  • England