Ehlers A, Beck S, Forbes S A, Trowsdale J, Volz A, Younger R, Ziegler A
Institut für Immungenetik, Universitätsklinikum Charité, Humboldt-Universität zu Berlin, 14050 Berlin, Germany.
Genome Res. 2000 Dec;10(12):1968-78. doi: 10.1101/gr.10.12.1968.
Clusters of olfactory receptor (OR) genes are found on most human chromosomes. They are one of the largest mammalian multigene families. Here, we report a systematic study of polymorphism of OR genes belonging to the largest fully sequenced OR cluster. The cluster contains 36 OR genes, of which two belong to the vomeronasal 1 (V1-OR) family. The cluster is divided into a major and a minor region at the telomeric end of the HLA complex on chromosome 6. These OR genes could be involved in MHC-related mate preferences. The polymorphism screen was carried out with 13 genes from the HLA-linked OR cluster and three genes from chromosomes 7, 17, and 19 as controls. Ten human cell lines, representing 18 different chromosome 6s, were analyzed. They were from various ethnic origins and exhibited different HLA haplotypes. All OR genes tested, including those not linked to the HLA complex, were polymorphic. These polymorphisms were dispersed along the coding region and resulted in up to seven alleles for a given OR gene. Three polymorphisms resulted either in stop codons (genes hs6M1-4P, hs6M1-17) or in a 16-bp deletion (gene hs6M1-19P), possibly leading to lack of ligand recognition by the respective receptors in the cell line donors. In total, 13 HLA-linked OR haplotypes could be defined. Therefore, allelic variation appears to be a general feature of human OR genes.
嗅觉受体（OR）基因簇存在于大多数人类染色体上。它们是最大的哺乳动物多基因家族之一。在此，我们报告了一项对属于最大的已完全测序的OR基因簇的OR基因多态性的系统研究。该基因簇包含36个OR基因，其中两个属于犁鼻器1（V1-OR）家族。该基因簇在6号染色体上HLA复合体的端粒末端被分为一个主要区域和一个次要区域。这些OR基因可能参与与MHC相关的配偶偏好。以来自HLA连锁的OR基因簇的13个基因以及来自7号、17号和19号染色体的3个基因作为对照进行多态性筛选。分析了代表18条不同6号染色体的10个人类细胞系。它们来自不同的种族起源，表现出不同的HLA单倍型。所有测试的OR基因，包括那些与HLA复合体不连锁的基因，都是多态的。这些多态性沿编码区分布，给定的OR基因最多产生7个等位基因。三种多态性要么导致终止密码子（基因hs6M1-4P、hs6M1-17），要么导致16 bp的缺失（基因hs6M1-19P），这可能导致细胞系供体中相应受体缺乏配体识别。总共可以定义13种HLA连锁的OR单倍型。因此，等位基因变异似乎是人类OR基因的一个普遍特征。
