Detection of point mutations of the Axin1 gene in colorectal cancers.
Axin is a recently identified tumor suppressor that plays an important role in liver and colon cancers. To gain further insights into the structure and function of Axin in controlling cell growth, we analyzed 54 colorectal cancer tissues for mutations in AXIN1 gene. We employed PCR amplification with 23 sets of primers against introns that encompassed the whole coding region of AXIN1 followed by single-strand conformation polymorphism (SSCP) analysis. After subcloning and sequencing analysis of the reamplified DNA from the aberrant bands, we found, in addition to 3 silent mutations, 6 missense point mutations in different functionally important regions. The missense mutation rate is hence 11%, suggesting that Axin deficiency may contribute to the onset of colorectal tumorigenesis.
Jin
Li-Hua
LH
Regulatory Biology Laboratory, Department of Biology, Xiamen University, Fujian, China.
Shao
Qiu-Jie
QJ
Luo
Wen
W
Ye
Zhi-Yun
ZY
Li
Qing
Q
Lin
Sheng-Cai
SC
D000230:Adenocarcinoma / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D060466:Axin Protein; D001483:Base Sequence; D003110:Colonic Neoplasms / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012004:Rectal Neoplasms / Q000235:genetics*; D012097:Repressor Proteins
C555451:AXIN1 protein, human; D060466:Axin Protein; D011506:Proteins; D012097:Repressor Proteins