The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia
Open accessAbstract
Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Nav1.7, causes a congenital inability to experience pain in humans. Here we show that Nav1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Nav1.7 in odour perception, we generated conditional null mice in which Nav1.7 was removed from all olfactory sensory neurons. In the absence of Nav1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell.
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Cites
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An SCN9A channelopathy causes congenital inability to experience pain
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Self-citationResurgence of sodium channel research
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Self-citationInnate versus learned odour processing in the mouse olfactory bulb
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Cited by
The Role of Voltage-Gated Sodium Channels in Pain Signaling
Bennett, D. L., Clark, A. J., Huang, J., Waxman, S. G., & Dib-Hajj, S. D. (2019) · Physiological Reviews · doi:10.1152/physrev.00052.2017 · Cited by 730
Voltage-gated sodium channels: structure, function, pharmacology, and clinical indications
de Lera Ruiz, M., & Kraus, R. L. (2015) · Journal of Medicinal Chemistry · doi:10.1021/jm501981g · Cited by 548
Boesveldt, S., Postma, E. M., Boak, D., Welge-Luessen, A., Schöpf, V., Mainland, J. D., Martens, J., Ngai, J., & Duffy, V. B. (2017) · Chemical Senses · doi:10.1093/chemse/bjx025 · Cited by 355
Liberles, S. D. (2014) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021113-170334 · Cited by 291
Learned recognition of maternal signature odors mediates the first suckling episode in mice
Logan, D. W., Brunet, L. J., Webb, W. R., Cutforth, T., Ngai, J., & Stowers, L. (2012) · Current Biology · doi:10.1016/j.cub.2012.08.041 · Cited by 148
Metadata
- Authors
- Weiss, J., Pyrski, M., Jacobi, E., Bufe, B., Willnecker, V., Schick, B., Zizzari, P., Gossage, S. J., Greer, C. A., Leinders-Zufall, T., Woods, C. G., Wood, J. N., & Zufall, F.
- Venue
- Nature
- Published
- 2011-03-23
- Volume
- 472
- Issue
- 7342
- Pages
- 186-190
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2108652707
- Cited by
- 294
- References
- 35
- FWCI
- 13.51
- Type
- journal article
- Language
- en
- Open access
- green
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- Weiss, J., Pyrski, M., Jacobi, E., Bufe, B., Willnecker, V., Schick, B., Zizzari, P., Gossage, S. J., Greer, C. A., Leinders-Zufall, T., Woods, C. G., Wood, J. N., & Zufall, F. (2011). Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. Nature. https://doi.org/10.1038/nature09975
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