J Med Genet 2001;38:257-262
( April )
Letters to the editor
A distinct splice form of
APC is highly expressed in neurones but not
commonly mutated in neuroepithelial
tumours
| The first 150 words of the full text of this article appear below. |
EDITOR
The APC tumour
suppressor gene contains at least 21 exons, including four exons
upstream of exon 1.1 2 Alternative splicing involves at
least seven exons, including the first five exons, and creates distinct
splice forms of APC RNA.1-4
Exon 1 contains an in frame stop codon upstream of its initiating
methionine; hence only splice forms of APC
that lack exon 1 allow exons 5' of exon 1 to be translated.
Interestingly, splice forms lacking exon 1 are enriched in terminally
differentiated tissues including brain,5 intimating that
protein isoforms containing domains encoded by the exons 5' to exon 1 may be important in cellular differentiation. This study evaluates
neurones and glia of the rodent nervous system and asks which cell
types express APC isoforms lacking exon 1.
Medulloblastomas and glioblastomas are neuroepithelial tumours derived
from neuronal progenitor cells and glial cells,
respectively.6 7 Both tumour types occur at increased
frequency in a subset of adenomatous polyposis coli . . . [Full text of this article]