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Gene identification using exon amplification on human chromosome 18q21: implications for bipolar disorder

Abstract

We previously reported linkage between bipolar disorder and a region on human chromosome (hc) 18q21. to identify genes in this region, exon trapping was performed on cosmids isolated from an hc18-specific cosmid library (ll18nc02) using 47 sequence tagged site (sts) markers from 18q21 as hybridization probes. a total of 285 unique sequences (exons) were obtained from 850 sequenced clones. homology searching of the databases using ncbi's blast algorithms revealed that 31 exons have identity to known genes and/or ests, seven are identical to regions of finished genomic sequences in the 18q21 region, 20 have significant similarity (>30% sequence identity) to genes from human and/or other species, 19 were repetitive sequences, and 208 sequences (72%) are novel. Seventy per cent of the trapped sequences were predicted to be derived from genes using library screening and RT-PCR analyses. This represents an initial stage in characterizing genes in a susceptibility region for further study in bipolar disorder or other diseases that map to this region.

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Acknowledgements

This study is supported by the Theodore and Vada Stanley Foundation; NIH grants to CAR (MH50763), MGM (MH01088) and JRD (MH42243); and National Alliance for Research on Schizophrenia and Depression (NARSAD) grant (JRD, MGM). We thank Drs Russell L Margolis and Virginia Willower for critical reading of the manuscript. We also thank Dr Russell L Margolis and John Kleiderlain for providing us with a set of filter lifts of a cerebellum cDNA library, and Drs OC Stine and A Heinzer for YAC contig construction.

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Correspondence to C A Ross or M G McInnis.

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Accession numbers for the sequences submitted to GenBank are AF149426–AF149699

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Chen, H., Huo, Y., Patel, S. et al. Gene identification using exon amplification on human chromosome 18q21: implications for bipolar disorder. Mol Psychiatry 5, 502–509 (2000). https://doi.org/10.1038/sj.mp.4000780

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