RT Journal A1 Younger, Ruth M. A1 Amadou, Claire A1 Bethel, Graeme A1 Ehlers, Anke A1 Lindahl, Kirsten Fischer A1 Forbes, Simon A1 Horton, Roger A1 Milne, Sarah A1 Mungall, Andrew J. A1 Trowsdale, John A1 Volz, Armin A1 Ziegler, Andreas A1 Beck, Stephan T1 Characterization of Clustered MHC-Linked Olfactory Receptor Genes in Human and Mouse JF Genome Research JO Genome Research YR 2001 FD April 01 VO 11 IS 4 SP 519 OP 530 DO 10.1101/gr.160301 UL http://genome.cshlp.org/content/11/4/519.abstract AB Olfactory receptor (OR) loci frequently cluster and are present on most human chromosomes. They are members of the seven transmembrane receptor (7-TM) superfamily and, as such, are part of one of the largest mammalian multigene families, with an estimated copy number of up to 1000 ORs per haploid genome. As their name implies, ORs are known to be involved in the perception of odors and possibly also in other, nonolfaction-related, functions. Here, we report the characterization of ORs that are part of the MHC-linked OR clusters in human and mouse (partial sequence only). These clusters are of particular interest because of their possible involvement in olfaction-driven mate selection. In total, we describe 50 novel OR loci (36 human, 14 murine), making the human MHC-linked cluster the largest sequenced OR cluster in any organism so far. Comparative and phylogenetic analyses confirm the cluster to be MHC-linked but divergent in both species and allow the identification of at least one ortholog that will be useful for future regulatory and functional studies. Quantitative feature analysis shows clear evidence of duplications of blocks of OR genes and reveals the entire cluster to have a genomic environment that is very different from its neighboring regions. Based on in silico transcript analysis, we also present evidence of extensive long-distance splicing in the 5′-untranslated regions and, for the first time, of alternative splicing within the single coding exon of ORs. Taken together with our previous finding that ORs are also polymorphic, the presented data indicate that the expression, function, and evolution of these interesting genes might be more complex than previously thought.[The sequence data described in this paper have been submitted to the EMBL nucleotide data library under accession nos.Z84475, Z98744, Z98745, AL021807, AL021808, AL022723, AL022727,AL031893, AL035402, AL035542, AL050328, AL050339, AL078630, AL096770,AL121944, AL133160, and AL133267.]