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2013 | 60 | 4 |
Tytuł artykułu

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

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
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.
Słowa kluczowe
Wydawca
-
Rocznik
Tom
60
Numer
4
Opis fizyczny
p.573-578,fig.,ref.
Twórcy
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland
  • Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland
  • Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland
  • Department of Gynecological Oncology, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
  • Department of General, Gastrointestinal and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of General and Trauma Surgery, with subdivision of Gastroenterological and Endocrine Surgery, District Hospital of Poznan, Poznan, Poland
autor
  • Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland
  • Department of Histology and Embryology, Wroclaw Medical University, Wroclaw, Poland
autor
  • Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland
Bibliografia
  • Bowen NJ, Logani S, Dickerson EB, Kapa LB, Akhtar M, Benigno BB, McDonald JF (2007) Emerging roles for PAX8 in ovarian cancer and endosalpingeal development. Gynecol Oncol 104: 331-337. 
  • Campagnolo M, Pesaresi A, Zelezetsky I, Geremia S, Randaccio L, Bisca A, Tell G (2007) Structural studies on Pax-8 Prd domain/DNA complex. J Biomol Struct Dyn 24: 429-441. 
  • Esperante SA, Rivolta CM, Miravalle L, Herzovich V, Iorcansky S, Baralle M, Targovnik HM (2008) Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. Clin Endocrinol (Oxf) 68: 828-835. 
  • Kozmik Z, Kurzbauer R, Dorfler P, Busslinger M (1993) Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties. Mol Cell Biol 13: 6024-6035. 
  • Narlis M, Grote D, Gaitan Y, Boualia SK, Bouchard M (2007) Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney. J Am Soc Nephrol 18: 1121-1129. 
  • Nonaka D, Chiriboga L, Soslow RA (2008) Expression of pax8 as a useful marker in distinguishing ovarian carcinomas from mammary carcinomas. Am J Surg Pathol 32: 1566-1571. 
  • Parlato R, Rosica A, Rodriguez-Mallon A, Affuso A, Postiglione MP, Arra C, Mansouri A, Kimura S, Di Lauro R, De Felice M (2004) An integrated regulatory network controlling survival and migration in thyroid organogenesis. Dev Biol 276: 464-475. 
  • Poleev A, Wendler F, Fickenscher H, Zannini MS, Yaginuma K, Abbott C, Plachov D (1995) Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors. FEBS 228: 899-911. 
  • Ruchala M, Szczepanek E, Szaflarski W, Moczko J, Czarnywojtek A, Pietz L, Nowicki M, Niedziela M, Zabel M, Köhrle J, Sowinski J (2010) Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case-control study. Eur J Endocrinol. 162: 153-160. 
  • Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nat Genet 3: 292-298. 
  • Szczepanek E, Ruchala M, Szaflarski W, Budny B, Kilinska L, Jaroniec M, Niedziela M, Zabel M, Sowinski J (2011) FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Horm Res Paediatr 75: 329-334. 
  • Tong GX, Weeden EM, Hamele-Bena D, Huan Y, Unger P, Memeo L, O'Toole K (2008) Expression of PAX8 in nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract: evidence of related histogenesis? Am J Surg Pathol 32: 1380-1387. 
  • Uemura S, Dorywalska M, Lee TH, Kim HD, Puglisi JD, Chu S (2007) Peptide bond formation destabilizes Shine-Dalgarno interaction on the ribosome. Nature 446: 454-457. 
  • Wang Q, Fang WH, Krupinski J, Kumar S, Slevin M, Kumar P (2008) Pax genes in embryogenesis and oncogenesis. J Cell Mol Med 12: 2281-2294. 
  • Xu W, Rould MA, Jun S, Desplan C, Pabo CO (1995) Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell 80: 639-650.
Typ dokumentu
Bibliografia
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Identyfikator YADDA
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