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.

Szczepanek‐Parulska, Ewelina; Szaflarski, Witold; Piątek, Katarzyna; Budny, Bartłomiej; Jaszczyńska-Nowinka, Karolina; Biczysko, Maciej; Wierzbicki, T; J, Skrobisz; Zabel, Maciej; Ruchała, Marek

doi:10.18388/abp.2013_2022

Cited by 14 publications

(11 citation statements)

References 16 publications

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“…The PAX8 gene, located at 2q13 and spanning 63 kb, is transcribed, processed and translated to give rise to six reported mRNAs: the originally described PAX8A, B, C, and D, which are in turn translated to the corresponding protein isoforms (6), and a more recently described transcript, PAX8F, that shares the PAX8A ORF and bears an extended 5'UTR (7). The existence of PAX8B has been questioned and its GenBank entry (NM_013951.3) is currently suppressed.…”

Section: Introductionmentioning

confidence: 99%

PAX8 is transcribed aberrantly in cervical tumors and derived cell lines due to complex gene rearrangements

López–Urrutia

Pedroza-Torres²,

Fernández‐Retana³

et al. 2016

International Journal of Oncology

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The transcription factor PAX8, a member of the paired box-containing gene family with an important role in embryogenesis of the kidney, thyroid gland and nervous system, has been described as a biomarker in tumors of the thyroid, parathyroid, kidney and thymus. The PAX8 gene gives rise to four isoforms, through alternative mRNA splicing, but the splicing pattern in tumors is not yet established. Cervical cancer has a positive expression of PAX8; however, there is no available data determining which PAX8 isoform or isoforms are present in cervical cancer tissues as well as in cervical carcinoma-derived cell lines. Instead of a differential pattern of splicing isoforms, we found numerous previously unreported PAX8 aberrant transcripts ranging from 378 to 542 bases and present in both cervical carcinoma-derived cell lines and tumor samples. This is the first report of PAX8 aberrant transcript production in cervical cancer. Reported PAX8 isoforms possess differential transactivation properties; therefore, besides being a helpful marker for detection of cancer, PAX8 isoforms can plausibly exert differential regulation properties during carcinogenesis.

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Section: Introductionmentioning

confidence: 99%

PAX8 is transcribed aberrantly in cervical tumors and derived cell lines due to complex gene rearrangements

López–Urrutia

Pedroza-Torres²,

Fernández‐Retana³

et al. 2016

International Journal of Oncology

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“…The most frequently mentioned potential causes are mutations in genes encoding thyroid transcription factors or disturbed migration and bilobation of thyroid primordium (Fagman and Nilsson 2011 ; Tonacchera et al 2007 ). That includes for example PAX8 and FOXE1 gene, that have already been described to take part in the molecular background of this abnormality (Szczepanek-Parulska et al 2013 ; Szczepanek et al 2011 ).…”

Section: Discussionmentioning

confidence: 99%

Does TSH Trigger the Anti-thyroid Autoimmune Processes? Observation on a Large Cohort of Naive Patients with Thyroid Hemiagenesis

Szczepanek‐Parulska

Zybek-Kocik

Woliński

et al. 2016

Arch. Immunol. Ther. Exp.

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Thyroid hemiagenesis (THA) is a rare abnormality characterized by the absence of one thyroid lobe. Elevated thyroid stimulating hormone (TSH) level and higher incidence of thyroid diseases were reported in THA. The aim of the study is to evaluate the thyroid autoimmunity incidence in patients with THA and influence of higher than average TSH level on thyroid volume (TV) and its change with age. The study included a group of naive patients with THA and a control group of subjects with bilobate thyroid. All patients underwent clinical examination, thyroid ultrasound, scintiscan and laboratory tests. In the studied and control group the presence of thyroid autoantibodies (TAb) was evaluated. The THA group consisted of 65 patients. In THA group 53.85 % of patients were positive for TAb. Patients with positive TAb were older (46.0 ± 18.3 years) than those with negative (35.0 ± 19.8 years); p = 0.02. The incidence of TAb was lower in controls (13.85 %, p < 0.0001). In the study group, positive correlation between the age and TV (r = 0.46, p = 0.0001), and negative correlations between the age and TSH level (r = −0.31, p = 0.01), and TSH concentration and TV (r = −0.35, p = 0.004) were found. In a subgroup of 30 patients with THA negative for TAb, even stronger correlations were observed. The median single lobe volume and median TSH level were higher in patients with THA when compared to controls (13.60 vs 8.20 ml, p < 0.0001; 3.23 vs 1.48 µU/ml, p < 0.0001, respectively). Patients with THA constitute an in vivo model of long-term thyroid TSH overstimulation. Further studies are needed to reveal, whether TSH overstimulation may be the trigger for thyroid autoimmunity.

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“…Castanet et al [32] screened a cohort of 22 patients with thyroid dysgenesis including THA and also found no PAX-8 mutations. However, Szczepanek-Parulska et al [33] described an alternative 3'acceptor site in exon2 of the PAX-8 gene, which might be associated with THA. Budny et al [34] analyzed a cohort of 34 sporadic patients diagnosed with THA and a three-generation family by comprehensive genomic examination.…”

Section: Embryological Development Of the Thyroid Gland And Genetic Cmentioning

confidence: 99%

“…However, Szczepanek-Parulska et al. [ 33 ] described an alternative 3’acceptor site in exon2 of the PAX‑8 gene, which might be associated with THA. Budny et al.…”

Section: Embryological Development Of the Thyroid Gland And Genetic Cmentioning

confidence: 99%

Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?

Mikosch

Weixlbaumer

Irrgang

et al. 2020

Wien Med Wochenschr

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Summary Hemiagenesis of the thyroid gland (THA) represents a rare congenital anomaly. It is characterized by the absence of one thyroid lobe, and sometimes the isthmus as well. It can occur with all kinds of other thyroid pathologies that may be present in the remaining thyroid lobe. A case of a 21-year-old male patient is presented; he sought a thyroid consultation because of hair loss, fatigue, and problems concentrating, thus raising the suspicion of hypothyroidism. Thyroid function was normal, but sonography of the thyroid gland revealed THA of the left lobe and the isthmus. The current knowledge concerning the genesis and the clinical consequences of THA are discussed based on the current literature.

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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.

Cited by 14 publications

References 16 publications

PAX8 is transcribed aberrantly in cervical tumors and derived cell lines due to complex gene rearrangements

PAX8 is transcribed aberrantly in cervical tumors and derived cell lines due to complex gene rearrangements

Does TSH Trigger the Anti-thyroid Autoimmune Processes? Observation on a Large Cohort of Naive Patients with Thyroid Hemiagenesis

Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?

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