Human JTV1 gene overlaps PMS2 gene

Details Human JTV1 gene overlaps PMS2 gene Human JTV1 gene overlaps PMS2 gene

1995-08-24

1998-12-01

Patterson, Jr., Charles L.

Chemistry: molecular biology and microbiology

Micro-organism, per se ; compositions thereof; proces of...

Bacteria or actinomycetales; media therefor

4353201, 43525411, 4352542, 536 231, 536 243, 536 2431, C12N 121

Patent

active

058437576

ABSTRACT:
The hPMS2 gene encodes a protein which is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously published hPMS2 cDNA sequence lacks an upstream in-frame stop codon preceding the presumptive initiating methionine. To further evaluate the 5' terminus of the hPMS2 coding region, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5' genomic segment of the hPMS2 locus. The hPMS2 gene transcripts were found to have heterogeneous but collinear 5' termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5 kDa polypeptide was found to transcriptionally initiate within hPMS2 from the opposite strand.

REFERENCES:
Nicolaides et al., "Analysis of the 5' Region of PMS2 Reveals Heterogeneous Transcripts and a Novel Overlapping Gene", Genomics 29:329-334 (1995).
Hillier et al., "The WashU-Merck EST Project", EMBL Database Entry HS321180, Accession No. R84321 (1992).
Hillier et al., "The WashU-Merck EST Project", EMBL Database Entry HS461263, Accession No. N26461.
Nicolaides et al. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature vol. 371, pp. 75-80.

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