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Nucleic Acids Research, 1994, Vol. 22, No. 14 2719-2725
© 1994

GENOME STRUCTURE AND MAPPING

The human DNA polymerase ß gene structure. Evidence of alternative splicing in gene expression

Yau-Jan Chyan, Susan Ackerman2, Nancy S. Shepherd2, O.Wesley McBride3, Steven G. Widen1, Samuel H. Wilson1 and Thomas G. Wood*

Recombinant DNA Laboratory, Sealy Center for Molecular Science Galveston, TX 77555-0851 1Sealy Center for Molecular Science, University of Texas Medical Branch Galveston, TX 77555-0851 2DuPont Merck Pharmaceutical Company Wilmington, DE 19880-0328 3Laboratory of Biochemistry, National Cancer Institute, National Institutes of Health Bethesda, MD 20892, USA

*To whom correspondence should be addressed

Received June 9, 1994. Accepted June 21, 1994.

DNA polymerase ß (ß-pol) is a single-copy gene that is considered to be part of the DNA repair machinery in mammalian cells. Using two human genomic libraries we have cloned the complete human ß-pol gene and determined the organization of the ß-pol coding sequence within the gene. The human ß-pol gene spans 33 kb and contains 14 exons that range from 50 to 233 bp. The 13 introns vary from 96 bp to 6.5 kb. Information derived from this study was used in defining the location of a deletion/insertion type restriction fragment length polymorphism (RFLP) 5' to exon I of the human ß-pol gene. This RFLP was utilized in linkage analysis of DNAs from CEPH families and the results confirm the previous assignment of the human ß-pol gene to chromosome 8 (p12-p11). Analysis of mRNA from six human cell lines using the polymerase chain reaction showed the expression of two ß-pol transcripts. Sequence analysis revealed that the size difference in these transcripts was due to deletion of the 58 bp sequence encoded by exon II, suggesting that the smaller transcript results from an alternative splicing of the exon II sequence during processing of the ß-pol precursor RNA.


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