PMID- 9817916 OWN - NLM STAT- MEDLINE DCOM- 19990121 LR - 20190512 IS - 0964-6906 (Print) IS - 0964-6906 (Linking) VI - 7 IP - 13 DP - 1998 Dec TI - Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. PG - 2007-20 AB - The human genome contains thousands of genes that encode a diverse repertoire of odorant receptors (ORs). We report here on the identification and chromosomal localization of 74 OR-containing genomic clones. Using fluorescence in situ hybridization (FISH), we demonstrate a striking homology among a set of approximately 20 OR locations, illustrating a history of duplications that have distributed OR sequences across the genome. Half of the OR-containing BACs cloned from total genomic DNA and 86% of cosmids derived from chromosome 3 cross-hybridize to a subset of these locations, many to 17 of them. These paralogous regions are distributed on 13 chromosomes, and eight lie in terminal bands. By analyzing clones from an approximately 250 kb clone-walk across one of these sites (3p13), we show that the homology among these sites is extensive (>150 kb) and encompasses both OR genes and intergenic genomic sequences. The FISH signals appear significantly larger at some sites than at the native location, indicating that portions of some duplicons have undergone local amplification/attrition. More restricted duplications involving pairs of other genomic locations are detected with 12% of the OR-BACs. Only a small subset of OR locations is sufficiently diverged from the others that clones derived from them behave as single-copy FISH probes. We estimate that duplications encompassing members of the OR gene family account for >0.1% of the human genome. A comparison of FISH signals at orthologous locations in other primates indicates that a portion of this OR 'subgenome' has been in flux during the divergence of primates, possibly as a mechanism for evolving the repertoire of olfactory receptors. FAU - Trask, B J AU - Trask BJ AD - Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, WA 98195, USA. trask@biotech.washington.edu FAU - Massa, H AU - Massa H FAU - Brand-Arpon, V AU - Brand-Arpon V FAU - Chan, K AU - Chan K FAU - Friedman, C AU - Friedman C FAU - Nguyen, O T AU - Nguyen OT FAU - Eichler, E AU - Eichler E FAU - van den Engh, G AU - van den Engh G FAU - Rouquier, S AU - Rouquier S FAU - Shizuya, H AU - Shizuya H FAU - Giorgi, D AU - Giorgi D LA - eng GR - GM57070-01/GM/NIGMS NIH HHS/United States GR - HG01464/HG/NHGRI NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Hum Mol Genet JT - Human molecular genetics JID - 9208958 RN - 0 (Receptors, Odorant) SB - IM MH - Animals MH - Chromosome Mapping MH - Chromosomes/genetics MH - Chromosomes, Human/genetics MH - Cloning, Molecular MH - *Genome, Human MH - Genomic Library MH - Humans MH - In Situ Hybridization, Fluorescence MH - Multigene Family/*genetics MH - Primates/genetics MH - Receptors, Odorant/*genetics EDAT- 1998/11/18 00:00 MHDA- 1998/11/18 00:01 CRDT- 1998/11/18 00:00 PHST- 1998/11/18 00:00 [pubmed] PHST- 1998/11/18 00:01 [medline] PHST- 1998/11/18 00:00 [entrez] AID - ddb261 [pii] AID - 10.1093/hmg/7.13.2007 [doi] PST - ppublish SO - Hum Mol Genet. 1998 Dec;7(13):2007-20. doi: 10.1093/hmg/7.13.2007.