Genetic elucidation of human hyperosmia to isovaleric acid.

The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating pseudogenes, displaying both functional and nonfunctional alleles in humans, are excellent cand...

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Autores principales:	Idan Menashe, Tatjana Abaffy, Yehudit Hasin, Sivan Goshen, Vered Yahalom, Charles W Luetje, Doron Lancet
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2007
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/96ae31df14344e50b675760659c9d310
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spelling	oai:doaj.org-article:96ae31df14344e50b675760659c9d3102021-11-25T05:33:05ZGenetic elucidation of human hyperosmia to isovaleric acid.1544-91731545-788510.1371/journal.pbio.0050284https://doaj.org/article/96ae31df14344e50b675760659c9d3102007-10-01T00:00:00Zhttps://doi.org/10.1371/journal.pbio.0050284https://doaj.org/toc/1544-9173https://doaj.org/toc/1545-7885The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating pseudogenes, displaying both functional and nonfunctional alleles in humans, are excellent candidates to underlie these differences in olfactory sensitivity. To explore this hypothesis, we examined the association between olfactory detection threshold phenotypes of four odorants and segregating pseudogene genotypes of 43 ORs genome-wide. A strong association signal was observed between the single nucleotide polymorphism variants in OR11H7P and sensitivity to the odorant isovaleric acid. This association was largely due to the low frequency of homozygous pseudogenized genotype in individuals with specific hyperosmia to this odorant, implying a possible functional role of OR11H7P in isovaleric acid detection. This predicted receptor-ligand functional relationship was further verified using the Xenopus oocyte expression system, whereby the intact allele of OR11H7P exhibited a response to isovaleric acid. Notably, we also uncovered another mechanism affecting general olfactory acuity that manifested as a significant inter-odorant threshold concordance, resulting in an overrepresentation of individuals who were hyperosmic to several odorants. An involvement of polymorphisms in other downstream transduction genes is one possible explanation for this observation. Thus, human hyperosmia to isovaleric acid is a complex trait, contributed to by both receptor and other mechanisms in the olfactory signaling pathway.Idan MenasheTatjana AbaffyYehudit HasinSivan GoshenVered YahalomCharles W LuetjeDoron LancetPublic Library of Science (PLoS)articleBiology (General)QH301-705.5ENPLoS Biology, Vol 5, Iss 11, p e284 (2007)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Idan Menashe Tatjana Abaffy Yehudit Hasin Sivan Goshen Vered Yahalom Charles W Luetje Doron Lancet Genetic elucidation of human hyperosmia to isovaleric acid.
description	The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating pseudogenes, displaying both functional and nonfunctional alleles in humans, are excellent candidates to underlie these differences in olfactory sensitivity. To explore this hypothesis, we examined the association between olfactory detection threshold phenotypes of four odorants and segregating pseudogene genotypes of 43 ORs genome-wide. A strong association signal was observed between the single nucleotide polymorphism variants in OR11H7P and sensitivity to the odorant isovaleric acid. This association was largely due to the low frequency of homozygous pseudogenized genotype in individuals with specific hyperosmia to this odorant, implying a possible functional role of OR11H7P in isovaleric acid detection. This predicted receptor-ligand functional relationship was further verified using the Xenopus oocyte expression system, whereby the intact allele of OR11H7P exhibited a response to isovaleric acid. Notably, we also uncovered another mechanism affecting general olfactory acuity that manifested as a significant inter-odorant threshold concordance, resulting in an overrepresentation of individuals who were hyperosmic to several odorants. An involvement of polymorphisms in other downstream transduction genes is one possible explanation for this observation. Thus, human hyperosmia to isovaleric acid is a complex trait, contributed to by both receptor and other mechanisms in the olfactory signaling pathway.
format	article
author	Idan Menashe Tatjana Abaffy Yehudit Hasin Sivan Goshen Vered Yahalom Charles W Luetje Doron Lancet
author_facet	Idan Menashe Tatjana Abaffy Yehudit Hasin Sivan Goshen Vered Yahalom Charles W Luetje Doron Lancet
author_sort	Idan Menashe
title	Genetic elucidation of human hyperosmia to isovaleric acid.
title_short	Genetic elucidation of human hyperosmia to isovaleric acid.
title_full	Genetic elucidation of human hyperosmia to isovaleric acid.
title_fullStr	Genetic elucidation of human hyperosmia to isovaleric acid.
title_full_unstemmed	Genetic elucidation of human hyperosmia to isovaleric acid.
title_sort	genetic elucidation of human hyperosmia to isovaleric acid.
publisher	Public Library of Science (PLoS)
publishDate	2007
url	https://doaj.org/article/96ae31df14344e50b675760659c9d310
work_keys_str_mv	AT idanmenashe geneticelucidationofhumanhyperosmiatoisovalericacid AT tatjanaabaffy geneticelucidationofhumanhyperosmiatoisovalericacid AT yehudithasin geneticelucidationofhumanhyperosmiatoisovalericacid AT sivangoshen geneticelucidationofhumanhyperosmiatoisovalericacid AT veredyahalom geneticelucidationofhumanhyperosmiatoisovalericacid AT charleswluetje geneticelucidationofhumanhyperosmiatoisovalericacid AT doronlancet geneticelucidationofhumanhyperosmiatoisovalericacid
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Genetic elucidation of human hyperosmia to isovaleric acid.

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