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2013 | 60 | 4 | 573-578
Article 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

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Languages of publication
EN
Abstracts
EN
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.
Keywords
Publisher

Year
Volume
60
Issue
4
Pages
573-578
Physical description
Dates
published
2013
received
2013-02-17
revised
2013-10-17
accepted
2013-12-02
(unknown)
2013-12-16
Contributors
  • 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
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland
  • Department of Gynecological Oncology, Poznan University of Medical Sciences, Poznań, Poland
  • Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznań, Poland
  • Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznań, Poland
  • Department of General and Trauma Surgery, with subdivision of Gastroenterological and Endocrine Surgery, District Hospital of Poznań, Poznań, Poland
author
  • Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv60p573kz
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