Polymorphism of the aryl-hydrocarbon receptor gene in intron 10 of human cancers
Braz. j. med. biol. res
;
44(11): 1112-1117, Nov. 2011. ilus
Artigo
em Inglês
| LILACS
| ID: lil-604275
ABSTRACT
Polychlorinated dibenzo-p-dioxins (PCDDs) and related halogenated aromatic hydrocarbons (e.g., PCDFs), often called "dioxins", are ubiquitously present environmental contaminants. Some of them, notably 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), are among the most toxic synthetic compounds known. The biological effects of dioxins are mediated via the aryl hydrocarbon receptor (AhR). Mutations in the AhR transactivation domain are linked to sensitivity to the acute lethality of TCDD. We present here a study of AhR gene polymorphism in normal and cancer human tissues affecting pre-mRNA splicing in the AhR gene-coding transactivation domain region (exon 10, intron 10, exon 11 region), previously shown to be associated with AhR dysfunction. We tested 126 pairs of normal and cancer tissue samples from liver, lung, stomach, kidney, mucous, breast, and pancreas of 49 males and 77 females (45-70 years of age). We used in vitro splicing assay, RT-PCR and sequencing methods. Our results showed that in an in vitro system it is possible to reconstitute cellular pre-mRNA splicing events. Tested cancer tissues did not contain mutations in the AhR transactivation domain region when the DNA sequences were compared with those from normal tissues. There were also no differences in AhR mRNA splice variants between normal and malignant breast tissues and no polymorphisms in the studied regions or cDNA.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Polimorfismo Genético
/
RNA Mensageiro
/
Íntrons
/
Processamento Alternativo
/
Receptores de Hidrocarboneto Arílico
/
Neoplasias
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Lituânia
Instituição/País de afiliação:
Vilnius University/LT
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