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.

• DOI: 10.18388/abp.2013_2022
• Publication Date: 2019-02-26T11:45:34Z
• Authors: Ewelina Szczepane...; Witold Szaflarski; Katarzyna Piątek; Bartłomiej Budny; Karolina Jaszczyń...; Maciej Biczysko; Tomasz Wierzbicki; Jerzy Skrobisz; Maciej Zabel; Marek Ruchała
• Keywords: PAX8

PAX8 gene encodes one of the transcription factors engaged in regulation proper development thyroid gland as well Müllerian and renal/upper urinary tracts. So far, six alternatively spliced transcripts were reported, however, sequences only four deposited NCBI database. Here, we evaluate a fragment novel variant mRNA formed by an alternative 3' acceptor site located second exon. The molecular outcome encompasses extension 5' untranslated region exon two 97 nucleotides is evident from mRNA. This new insert may impair binding to ribosome consequence significantly decrease expression protein. show for first time that might be associated with congenital hemiagenesis influence different types cancer.