Three secretory phospholipase A(2) genes that map to human chromosome 1P35-36 are not mutated in individuals with attenuated adenomatous polyposis coli.
Mutation of Pla2g2a, a secretory phospholipase A(2) gene, dramatically increases the number of intestinal polyps that develop in the multiple intestinal neoplasia (Min) mouse, a murine model for adenomatous polyposis coli in humans. We tested the hypothesis that mutation of the human homologue(s) of this gene might be responsible for the more severe phenotype (hundreds of polyps) seen in a subset of individuals with attenuated adenomatous polyposis coli (AAPC). DNA sequence analysis demonstrated that alterations of PLA2G2A, as well as related genes PLA2G2C and PLA2G5, were evenly distributed between three classes of AAPC subjects: those with small, intermediate, and large numbers of adenomatous colonic polyps. Among 67 additional unrelated AAPC subjects, a stop mutation in PLA2G2C did not correlate with an increased burden of adenomatous polyps. Therefore, mutation of the human homologue(s) of murine Pla2g2a does not appear to be responsible for phenotypic variation among subjects with AAPC.
Spirio
L N
LN
Department of Human Genetics, University of Utah, Salt Lake City, 84112, USA.
Kutchera
W
W
Winstead
M V
MV
Pearson
B
B
Kaplan
C
C
Robertson
M
M
Lawrence
E
E
Burt
R W
RW
Tischfield
J A
JA
Leppert
M F
MF
Prescott
S M
SM
White
R
R
D011125:Adenomatous Polyposis Coli / Q000201:enzymology* / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010741:Phospholipases A / Q000235:genetics*; D011110:Polymorphism, Genetic; D017421:Sequence Analysis
D010741:Phospholipases A