OBJECTIVE: To explore the mutation and amplification of RIT1 gene and their correlation with carcinogenesis of hepatocellular carcinoma (HCC). METHODS: The polymerase chain reactioindirect sequencing method was used for detecting the mutations in the sequence of all 6 exons in the RIT1 gene of 50 HCC tissues and paratumor tissues. And the amplification of RIT1 gene was examined by fluorescence quantitative polymerase chain reaction method. RESULTS: A nucleotide 241 G --> C substitution in exon 5 of RIT1 gene was detected in one patient's HCC tissue, but not in paratumor tissue; this 241 G --> C substitution leads to Glu81Gln amino acid alteration in the conservative domain binding GTP. A nucleotide G --> C substitution in 5'-UTR (-21 bp from initial codon) was detected in all of the 50 HCC tissues and paratumor tissues, and 2- to 297-fold amplification of RIT1 gene was detected in 11 of 43 qualified cases, the amplification frequency being 25.6%. CONCLUSION: Gene amplification is one of the main activating ways of RIT1 gene in HCC, and its amplification might be correlated with HCC carcinogenesis, while point mutation might be not.
OBJECTIVE: To explore the mutation and amplification of RIT1 gene and their correlation with carcinogenesis of hepatocellular carcinoma (HCC). METHODS: The polymerase chain reactioindirect sequencing method was used for detecting the mutations in the sequence of all 6 exons in the RIT1 gene of 50 HCC tissues and paratumor tissues. And the amplification of RIT1 gene was examined by fluorescence quantitative polymerase chain reaction method. RESULTS: A nucleotide 241 G --> C substitution in exon 5 of RIT1 gene was detected in one patient's HCC tissue, but not in paratumor tissue; this 241 G --> C substitution leads to Glu81Gln amino acid alteration in the conservative domain binding GTP. A nucleotide G --> C substitution in 5'-UTR (-21 bp from initial codon) was detected in all of the 50 HCC tissues and paratumor tissues, and 2- to 297-fold amplification of RIT1 gene was detected in 11 of 43 qualified cases, the amplification frequency being 25.6%. CONCLUSION: Gene amplification is one of the main activating ways of RIT1 gene in HCC, and its amplification might be correlated with HCC carcinogenesis, while point mutation might be not.
Authors: Zhenhao Fang; Christopher B Marshall; Jiani C Yin; Mohammad T Mazhab-Jafari; Geneviève M C Gasmi-Seabrook; Matthew J Smith; Tadateru Nishikawa; Yang Xu; Benjamin G Neel; Mitsuhiko Ikura Journal: J Biol Chem Date: 2016-05-18 Impact factor: 5.157
Authors: I Gómez-Seguí; H Makishima; A Jerez; K Yoshida; B Przychodzen; S Miyano; Y Shiraishi; H D Husseinzadeh; K Guinta; M Clemente; N Hosono; M A McDevitt; A R Moliterno; M A Sekeres; S Ogawa; J P Maciejewski Journal: Leukemia Date: 2013-06-14 Impact factor: 11.528