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Related Concept Videos

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Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Real-time In Vitro Monitoring of Odorant Receptor Activation by an Odorant in the Vapor Phase
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General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations.

Ifat Keydar1, Edna Ben-Asher, Ester Feldmesser

  • 1Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.

Human Mutation
|September 1, 2012
PubMed
Summary

Genetic variations in auxiliary olfactory genes influence general olfactory sensitivity (GOS) and congenital general anosmia (CGA). This study identified 1,680 candidate genes and their variants, aiding understanding of olfactory perception differences.

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Last Updated: May 19, 2026

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09:53

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Area of Science:

  • Genetics
  • Neuroscience
  • Olfactory receptor research

Background:

  • Genetic variations in olfactory receptors explain odorant-specific sensitivity differences.
  • The genetic basis for general olfactory sensitivity (GOS) and congenital general anosmia (CGA) is largely unknown.
  • Auxiliary olfactory genes, involved in transduction and neuronal development, are hypothesized to underlie GOS and CGA.

Purpose of the Study:

  • To systematically identify auxiliary olfactory genes and their variations.
  • To investigate the role of these genes in general olfactory sensitivity.
  • To create a database of olfactory genes and variants for future research.

Main Methods:

  • Conducted a literature survey of functional studies, mouse knockouts, and human olfactory disorders.
  • Performed next-generation transcriptome sequencing (RNA-seq) on human and mouse olfactory tissues.
  • Utilized a scoring system across 11 data sources to identify candidate genes and mined public repositories for genomic variants.

Main Results:

  • Identified 1,680 candidate auxiliary olfactory genes, with 450 shortlisted for higher functional probability.
  • Identified genomic variants (SNPs, indels, CNVs) in the top-scoring 136 genes.
  • Developed a comprehensive database of olfactory genes and their variants (http://genome.weizmann.ac.il/GOSdb).

Conclusions:

  • Genetic variations in auxiliary olfactory genes are likely crucial for general olfactory sensitivity.
  • The identified database provides a valuable resource for understanding interindividual variation in olfaction.
  • This research lays the groundwork for future studies into the genetic architecture of olfactory perception.