Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mice heterozygous for the dominant Min mutation in their Apc gene develop multiple intestinal neoplasia. Analogously, family members from familial adenomatous polyposis kindreds inheriting mutations in their human APC homologue develop a similar phenotype. Quantitative trait loci studies have identified the Mom1 locus (for modifier of Min-1), which is responsible for part of the genetic variability in polyp number found among inbred mouse strains. The secretory type II phospholipase [nonpancreatic Pla2s (type II Pla2s or Pla2s-II)] has been demonstrated to be a candidate for Mom1, and a mutation in Pla2s-II in mice carrying the Min mutation has been proposed to account for an increased polyp number compared to mice without the Pla2s-II mutation. In this study, we have mapped the chromosomal position of the human homologue of Pla2s-II. We have identified 3 mega-yeast artificial chromosomes that carry PLA2S-II and localized one of them by fluorescence in situ hybridization to the border between 1p35 and 1p36.1. The presence of the microsatellite marker D1S199 in all three clones integrates PLA2S-II into different genetic maps. This highly polymorphic CA repeat D1S199 has previously been shown by us to identify loss of heterozygosity in 48% of sporadic colorectal tumors, indicating that the human homologue of the Pla2s-II/Mom1 locus might be related to human colorectal cancer.
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PMID:Human homologue of a candidate for the Mom1 locus, the secretory type II phospholipase A2 (PLA2S-II), maps to 1p35-36.1/D1S199. 758 22

Mice with hereditary intestinal polyposis have mutations of the APC gene which causes formation of multiple polyps. At least one other gene influences the susceptibility for development of polyps in mice, and the locus was named Mom1. The causative gene for the Mom1 locus has recently been cloned and was found to be identical to the secretory type II phospholipase A2 (PLA2S-II) gene. Although the mechanism of contribution of PLA2S-II to formation of polyps is unclear, abnormalities of the PLA2S-II gene contribute to cellular transformation in mice. We speculated that this gene could contribute to tumorigenesis in human neoplasms. The human homologue of this gene maps to 1p35-36.1. Chromosomal deletions involving this region are frequently observed in neuroblastomas. We analyzed 19 neuroblastomas to detect point mutations of the PLA2S-II gene by PCR-single strand conformational polymorphism (SSCP). A polymorphism was detected at codon 32; no point mutations were found in the coding region of the gene. Moreover, in cases that were heterozygous at codon 32, three samples had hemizygous deletion of the gene. Taken together, PLA2S-II is frequently hemizygously deleted, but no point mutations are observed in neuroblastomas.
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PMID:Molecular analysis of the secretory phospholipase A2 gene, a candidate of Mom1 gene, in neuroblastomas. 902 30