title: Cloning and characterization of a novel gene, SHPRH, encoding a conserved putative protein with SNF2/helicase and PHD-finger domains from the 6q24 region.
abstract: Here we report the identification of a novel transcript containing SNF2, PHD-finger, RING-finger, helicase, and linker histone domains mapping to the q24 band region of human chromosome 6. These domains are characteristic of several DNA repair proteins, transcription factors, and helicases. We have cloned both human and mouse homologs of this novel gene using interexon PCR and RACE technologies. The human cDNA, termed SHPRH, is 6018 bp and codes for a putative protein of 1683 amino acids. The mouse cDNA, termed Shprh, is 7225 bp and codes for a putative protein of 1616 amino acids. The deduced amino acid sequences of the two proteins share 86% identity. Both genes are expressed ubiquitously, with a transcript size of approximately 7.5 kb. Mapping of this gene to 6q24, a region reported to contain a tumor suppressor locus, prompted us to evaluate SHPRH by mutation analysis in tumor cell lines. We have identified one truncating and three missense mutations, thus suggesting SHPRH as a possible candidate for the tumor suppressor gene.
authors.affiliation: Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. rsood@nhgri.nih.gov
authors.forename: Raman
authors.initials: R
authors.lastname: Sood
authors.forename: Izabela
authors.initials: I
authors.lastname: Makalowska
authors.forename: Michal
authors.initials: M
authors.lastname: Galdzicki
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Erica
authors.initials: E
authors.lastname: Eddings
authors.forename: Christiane M
authors.initials: CM
authors.lastname: Robbins
authors.forename: Tracy
authors.initials: T
authors.lastname: Moses
authors.forename: Jin
authors.initials: J
authors.lastname: Namkoong
authors.forename: Suzie
authors.initials: S
authors.lastname: Chen
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Trent
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015153:Blotting, Western; D045744:Cell Line, Tumor; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D020869:Gene Expression Profiling; D023061:Gene Order; D006801:Humans; D051379:Mice / Q000235:genetics*; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499336:SMARCA1 protein, human; C084011:SMARCA2 protein, human; C499503:Smarca2 protein, mouse; D014157:Transcription Factors; C084108:SMARCA4 protein, human; C513194:Smarca4 protein, mouse; D004265:DNA Helicases