Or4d6-KO Mouse

Or4d6, an olfactory receptor gene, is involved in the olfactory system which combines input from multiple receptor types to represent odor information. Olfactory receptors play a crucial role in the perception of various odors, and Or4d6 is part of this complex system that contributes to the overall understanding of olfactory coding [1].

A SNP (rs1453542) in Or4d6 was identified as a marker for gemcitabine/carboplatin-induced neutropenia, indicating its potential association with the response to chemotherapy drugs [2]. Also, Or4d6 was among 9 pathogenic germline variants clinically associated with survival outcome in rectal adenocarcinoma (READ), where patients carrying this germline susceptibility variant had an increased risk of poor survival [3]. Additionally, two linked SNPs in Or4d6 were associated with the musk Galaxolide, and it was the first human OR shown to drive specific anosmia to a musk compound [1].

In conclusion, Or4d6 is important for olfactory coding, specifically related to the perception of musk-like odors. It also has implications in chemotherapy-induced neutropenia and the survival outcome of rectal adenocarcinoma patients. Research on Or4d6 through genetic variants analysis provides insights into olfactory mechanisms and disease-related genetic factors, which may help in understanding disease processes and developing potential therapeutic strategies.

References:

1. Li, Bingjie, Kamarck, Marissa L, Peng, Qianqian, Mainland, Joel D, Wang, Sijia. 2022. From musk to body odor: Decoding olfaction through genetic variation. In PLoS genetics, 18, e1009564. doi:10.1371/journal.pgen.1009564. https://pubmed.ncbi.nlm.nih.gov/35113854/

2. Gréen, Henrik, Hasmats, Johanna, Kupershmidt, Ilya, Peterson, Curt, Lundeberg, Joakim. 2015. Using Whole-Exome Sequencing to Identify Genetic Markers for Carboplatin and Gemcitabine-Induced Toxicities. In Clinical cancer research : an official journal of the American Association for Cancer Research, 22, 366-73. doi:10.1158/1078-0432.CCR-15-0964. https://pubmed.ncbi.nlm.nih.gov/26378035/

3. Huang, Kevin Chih-Yang, Chiang, Shu-Fen, Ke, Tao-Wei, Chen, Tsung-Wei, Chao, Kun-San Clifford. . The Clinical Relevance of Frequent Germline Genetic Variants Detected by Targeted Sequencing in Patients With Rectal Adenocarcinoma (READ). In Cancer genomics & proteomics, 17, 291-299. doi:10.21873/cgp.20189. https://pubmed.ncbi.nlm.nih.gov/32345670/