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Publication : Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes.

First Author  Lueders KK Year  1999
Journal  Mamm Genome Volume  10
Issue  9 Pages  900-5
PubMed ID  10441742 Mgi Jnum  J:56860
Mgi Id  MGI:1342830 Doi  10.1007/s003359901111
Citation  Lueders KK, et al. (1999) Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes. Mamm Genome 10(9):900-5
abstractText  As a first step in determining whether there are polymorphisms in the nicotinic acetylcholine receptor (nAChR) genes that are associated with nicotine addiction, we isolated genomic clones of the beta2-nAChR genes from human and mouse BAC libraries. Although cDNA sequences were available for the human gene, only the promoter sequence had been reported for the mouse gene. We determined the genomic structures by sequencing 12 kb of the human gene and over 7 kb of the mouse gene. While the sizes of exons in the mouse and human genes are the same, the introns differ in size. Both promoters have a high GC content (60-80%) proximal to the AUG and share a neural-restrictive silencer element (NRSE), but overall sequence identity is only 72%. Using a 6-Mb YAC contig of Chr 1, we mapped the human beta2-nAChR gene, CHRNB2, to 1q21.3 with the order of markers cen, FLG, IVL, LOR, CHRNB2, tel. The mouse gene, Acrb2, had previously been mapped to Chr 3 in a region orthologous to human Chr 1. We refined mapping of the mouse gene and other markers on a radiation hybrid panel of Chr 3 and found the order cen, Acrb2, Lor, Iv1, Flg, tel. Our results indicate that this cluster of markers on human Chr 1 is inverted with respect to its orientation on the chromosome compared with markers in the orthologous region of mouse Chr 3.
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