title: PAX8 is transcribed aberrantly in cervical tumors and derived cell lines due to complex gene rearrangements.
abstract: 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.
authors.affiliation: Laboratorio de Genómica Funcional, Unidad de Biomedicina, FES-Iztacala, UNAM, Tlalnepantla, México.
authors.forename: Eduardo
authors.initials: E
authors.lastname: López-Urrutia
authors.affiliation: Laboratorio de Genómica, Instituto Nacional de Cancerología, Tlalpan, México.
authors.forename: Abraham
authors.initials: A
authors.lastname: Pedroza-Torres
authors.affiliation: Laboratorio de Genómica, Instituto Nacional de Cancerología, Tlalpan, México.
authors.forename: Jorge
authors.initials: J
authors.lastname: Fernández-Retana
authors.affiliation: Unidad de Investigaciones Biomédicas en Cáncer, Instituto Nacional de Cancerología, Instituto de Investigaciones Biomédicas, UNAM, Tlalpan, México.
authors.forename: David Cantu
authors.initials: DC
authors.lastname: De Leon
authors.affiliation: Subdirección Médica, Instituto Jalisciense de Cancerología, Guadalajara, Jalisco, México.
authors.forename: Fermín
authors.initials: F
authors.lastname: Morales-González
authors.affiliation: Unidad de Bioquímica, Instituto de Ciencias Médicas y Nutrición, Tlalpan, México.
authors.forename: Nadia
authors.initials: N
authors.lastname: Jacobo-Herrera
authors.affiliation: Centro de Investigaciones en Enfermedades Infecciosas, Instituto Nacional de Salud Pública, Cuernavaca, México.
authors.forename: Oscar
authors.initials: O
authors.lastname: Peralta-Zaragoza
authors.affiliation: Departamento de Posgrado y Educación Médica Continua, Instituto Nacional de Cancerología, Tlalpan, México.
authors.forename: Jorge
authors.initials: J
authors.lastname: García-Mendez
authors.affiliation: Laboratorio de Genómica Funcional, Unidad de Biomedicina, FES-Iztacala, UNAM, Tlalnepantla, México.
authors.forename: Verónica
authors.initials: V
authors.lastname: García-Castillo
authors.affiliation: Laboratorio de Genómica Funcional, Unidad de Biomedicina, FES-Iztacala, UNAM, Tlalnepantla, México.
authors.forename: Osvaldo
authors.initials: O
authors.lastname: Bautista-Isidro
authors.affiliation: Laboratorio de Genómica Funcional, Unidad de Biomedicina, FES-Iztacala, UNAM, Tlalnepantla, México.
authors.forename: Carlos
authors.initials: C
authors.lastname: Pérez-Plasencia
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D063646:Carcinogenesis / Q000235:genetics; D045744:Cell Line, Tumor; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D000072636:PAX8 Transcription Factor / Q000096:biosynthesis / Q000235:genetics*; D020033:Protein Isoforms / Q000096:biosynthesis / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D020033:Protein Isoforms; D012333:RNA, Messenger