title: 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.
abstract: 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.
authors: Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.
authors: Ewelina
authors: E
authors: Szczepanek-Parulska
authors: Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland.
authors: Witold
authors: W
authors: Szaflarski
authors: Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland; Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland.
authors: Katarzyna
authors: K
authors: Piątek
authors: Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.
authors: Bartłomiej
authors: B
authors: Budny
authors: Department of Gynecological Oncology, Poznan University of Medical Sciences, Poznań, Poland.
authors: Karolina
authors: K
authors: Jaszczyńska-Nowinka
authors: Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznań, Poland.
authors: Maciej
authors: M
authors: Biczysko
authors: Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznań, Poland.
authors: Tomasz
authors: T
authors: Wierzbicki
authors: Department of General and Trauma Surgery, with subdivision of Gastroenterological and Endocrine Surgery, District Hospital of Poznań, Poznań, Poland.
authors: Jerzy
authors: J
authors: Skrobisz
authors: Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland; Department of Histology and Embryology, Wroclaw Medical University, Wrocław, Poland.
authors: Maciej
authors: M
authors: Zabel
authors: Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.
authors: Marek
authors: M
authors: Ruchała
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D005091:Exons; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics* / Q000378:metabolism; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D013961:Thyroid Gland / Q000378:metabolism* / Q000473:pathology
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; D022821:RNA Splice Sites; D012333:RNA, Messenger