title: A gene from human chromosomal band 3p21.1 encodes a highly conserved arginine-rich protein and is mutated in renal cell carcinomas.
abstract: We have identified a gene, called ARP for Arginine-rich protein, in human chromosomal band 3p21. It is approximately 600 Kb telomeric to the ACY1 locus (Miller et al., 1989) and encodes a previously unidentified 234 amino acid long, highly basic protein. This gene is highly conserved at the DNA and RNA level. It is found in all species including hamster, rat, mouse, bovine and yeast. We have detected a point mutation (ATG50 to AGG) or deletion of ATG50 in 10 of 21 sporadic renal cell carcinomas. The mutable region is in an imperfect trinucleotide repeat in the coding region which is non-polymorphic among 50 normal individuals examined. The point mutation (ATG50 to AGG) or deletion of codon 50 removes a methionine and increases the stretch of arginines encoded by the AGG repeats in the ARP gene.
authors.affiliation: Department of Molecular Biology and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
authors.forename: V
authors.initials: V
authors.lastname: Shridhar
authors.forename: S
authors.initials: S
authors.lastname: Rivard
authors.forename: R
authors.initials: R
authors.lastname: Shridhar
authors.forename: C
authors.initials: C
authors.lastname: Mullins
authors.forename: L
authors.initials: L
authors.lastname: Bostick
authors.forename: W
authors.initials: W
authors.lastname: Sakr
authors.forename: D
authors.initials: D
authors.lastname: Grignon
authors.forename: O J
authors.initials: OJ
authors.lastname: Miller
authors.forename: D I
authors.initials: DI
authors.lastname: Smith
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D003062:Codon; D017124:Conserved Sequence; D018076:DNA, Complementary; D004276:DNA, Satellite; D006801:Humans; D006822:Hybrid Cells; D007680:Kidney Neoplasms / Q000235:genetics*; D008969:Molecular Sequence Data; D009414:Nerve Growth Factors; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D003062:Codon; D018076:DNA, Complementary; D004276:DNA, Satellite; C099695:MANF protein, human; D009414:Nerve Growth Factors; D011506:Proteins