Xia L, St Denis K A, Bapat B
Department of Pathology, Mount Sinai Hospital, University of Toronto, Canada.
Genomics. 1995 Aug 10;28(3):589-91. doi: 10.1006/geno.1995.1195.
Germline mutations of the tumor suppressor gene APC cause familial adenomatous polyposis. Somatic APC alterations are involved in several sporadic neoplasms, including colorectal, duodenal, gastric, and esophageal carcinoma. The APC mRNA is encoded by 15 exons. Additional transcripts have been reported, due to alternative splicing of coding as well as noncoding regions. Two mRNA isoforms occur due to a deletion of exon 7 or a partial deletion of exon 9. We have identified a novel exon, flanked by APC exons 10 and 11, which is expressed as an alternatively transcribed product of the gene. Further, we have shown that the novel exon consists of a heptad repeat motif and is conserved across species.
肿瘤抑制基因APC的种系突变会导致家族性腺瘤性息肉病。体细胞APC改变与多种散发性肿瘤有关，包括结直肠癌、十二指肠癌、胃癌和食管癌。APC mRNA由15个外显子编码。由于编码区和非编码区的可变剪接，已报道有其他转录本。由于外显子7缺失或外显子9部分缺失，会出现两种mRNA异构体。我们鉴定出一个新的外显子，其两侧是APC外显子10和11，该外显子作为该基因的可变转录产物表达。此外，我们已经表明，这个新外显子由一个七肽重复基序组成，并且在物种间保守。
