Hasin-Brumshtein Yehudit, Lancet Doron, Olender Tsviya
Department of Molecular Genetics and the Crown Human Genome Center, Weizmann Institute of Science, Rehovot 76100, Israel.
Trends Genet. 2009 Apr;25(4):178-84. doi: 10.1016/j.tig.2009.02.002. Epub 2009 Mar 18.
The sense of smell is a complex molecular device, encompassing several hundred olfactory receptor proteins (ORs). These receptors, encoded by the largest human gene superfamily, integrate odorant signals into an accurate 'odor image' in the brain. Widespread phenotypic diversity in human olfaction is, in part, attributable to prevalent genetic variation in OR genes, owing to copy number variation, deletion alleles and deleterious single nucleotide polymorphisms. The development of new genomic tools, including next generation sequencing and CNV assays, provides opportunities to characterize the genetic variations of this system. The advent of large-scale functional screens of expressed ORs, combined with genetic association studies, has the potential to link variations in ORs to human chemosensory phenotypes. This promises to provide a genome-wide view of human olfaction, resulting in a deeper understanding of personalized odor coding, with the potential to decipher flavor and fragrance preferences.
嗅觉是一种复杂的分子机制，包含数百种嗅觉受体蛋白（ORs）。这些受体由人类最大的基因超家族编码，将气味信号整合到大脑中精确的“气味图像”里。人类嗅觉中广泛存在的表型多样性部分归因于OR基因中普遍存在的遗传变异，这是由拷贝数变异、缺失等位基因和有害单核苷酸多态性导致的。包括新一代测序和CNV分析在内的新基因组工具的发展，为表征该系统的遗传变异提供了机会。对表达的ORs进行大规模功能筛选并结合遗传关联研究的出现，有可能将ORs的变异与人类化学感应表型联系起来。这有望提供人类嗅觉的全基因组视图，从而更深入地理解个性化气味编码，并有潜力解读风味和香味偏好。
