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Title: Identification of a highly conserved arginine-rich gene (MRC) from human chromosomal band 3p21.1 that contains point mutations in many renal cell carcinomas

Journal Article · · American Journal of Human Genetics
OSTI ID:133334
; ;  [1]
  1. Wayne State Univ., Detroit, MI (United States); and others

Sequences from the short arm of human chromosome 3, band 3p21, are frequently deleted during the development of a variety of different solid tumors, including lung cancer and renal cell carcinoma. The gene for aminoacylase-1 (ACY1), localized in 3p21.1, was previously shown to have lower levels of expression in many small call lung carcinoma cell lines. We focused our efforts on the isolation of genes from the region surrounding ACY1 in an attempt to identify candidate tumor suppressor genes. We report here the isolation of an arginine-rich gene encoded by sequences 600 Kb distal to ACY1. Although this gene is not deleted in any tested lung cancers or renal cell carcinomas, we have detected nucleotide substitutions within a 90 bp region of this gene that encodes multiple arginines in many sporadic renal cell carcinomas. The region, rich in arginines, was found to be remarkably conserved, showing 100% nucleotide sequence identity between humans and chickens. We have therefore identified a new arginine-rich gene in 3p21.1, a region that is frequently deleted in both lung and renal cell carcinomas, containing highly conserved sequences with subtle mutations in many sporadic renal cell carcinomas. We are calling this gene MRC for Mutated in Renal cell Carcinoma. The mutations observed in this gene do not seem to be due to a general replication error phenotype, as no microsatellite instabilities were seen in various di, tri, or tetranucleotides tested.

OSTI ID:
133334
Report Number(s):
CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0061
Journal Information:
American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English