- Tytuł:
- Alternative 3 acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers
- Autorzy:
-
Szczepanek-Parulska, Ewelina
Szaflarski, Witold
Piątek, Katarzyna
Budny, Bartłomiej
Jaszczyńska-Nowinka, Karolina
Biczysko, Maciej
Wierzbicki, Tomasz
Skrobisz, Jerzy
Zabel, Maciej
Ruchała, Marek - Powiązania:
- https://bibliotekanauki.pl/articles/1039446.pdf
- Data publikacji:
- 2013
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
PAX8
thyroid hemiagenesis
splicing
cancers - Opis:
- PAX8 gene encodes one of the transcription factors engaged in the regulation of proper development of thyroid gland as well as Müllerian and renal/upper urinary tracts. So far, six alternatively spliced transcripts were reported, however, sequences of only four were deposited in the NCBI database. Here, we evaluate a fragment of a novel variant of PAX8 mRNA formed by an alternative 3' acceptor site located in the second exon. The molecular outcome encompasses extension of the 5' untranslated region of exon two by 97 nucleotides as is evident from mRNA. This new insert may impair binding of mRNA to the ribosome and in consequence significantly decrease expression of the PAX8 protein. Here, we show for the first time that the novel insert in exon two might be associated with congenital thyroid hemiagenesis and influence development of different types of cancer.
- Źródło:
-
Acta Biochimica Polonica; 2013, 60, 4; 573-578
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł