A novel coding exon of the human adenomatous polyposis coli gene
- 1 October 1995
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 96 (4), 469-471
- https://doi.org/10.1007/bf00191808
Abstract
We report the genomic cloning and sequence analysis of a novel and (so far) smallest coding exon of the human adenomatous polyposis coli (APC) gene. This additional exon of 54 nucleotides in length, designated APC exon 10A, is located 1.6 kb downstream from exon 10. It resides on a 0.5-kb genomic EcoRI restriction fragment. APC exon 10A is alternatively spliced and inserted in-frame into mature transcripts; it gives an APC protein with an additional 18 amino acids. This highly conserved exon is expressed in a tissue-independent fashion. APC exon 10A flanking sequences are presented so that this novel exon can be included in future mutation screening procedures.This publication has 14 references indexed in Scilit:
- Localization of the Human β-Catenin Gene (CTNNB1) to 3p21: A Region Implicated in Tumor DevelopmentGenomics, 1994
- Molecular Diagnosis of Familial Adenomatous PolyposisNew England Journal of Medicine, 1993
- Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)1993
- Non‐allelic heterogeneity of familial adenomatous polyposisAmerican Journal of Medical Genetics, 1993
- Multiple forms of the APC gene transcripts and their tissue-specific expressionHuman Molecular Genetics, 1993
- Identification of an alternative 5? untranslated region of the adenomatous polyposis coli geneHuman Genetics, 1993
- Identification of FAP Locus Genes from Chromosome 5q21Science, 1991
- Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer PatientsScience, 1991
- Identification of deletion mutations and three new genes at the familial polyposis locusCell, 1991
- Identification and characterization of the familial adenomatous polyposis coli geneCell, 1991