Expression Analysis of MLH3, MLH1, and MSH4 in Maturation Arrest

• Tipo: Artigo em Revista Científica Internacional
• Data: 2012

Autores

Ferras, C (Autor) Outra; Fernandes, S (Autor) Outra; Silva, J (Autor) Outra; barros, a (Autor) FMUP; sousa, m (Autor) ICBAS

Revista

Título: Reproductive Sciences

Vol. 19

Páginas: 587-596

ISSN: 1933-7191

Editora: SAGE

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 5 Citações

Outras Informações

ID Authenticus: P-002-9CS

DOI: 10.1177/1933719111428521

Abstract (EN): The expression of DNA mismatch repair (DMMR) genes in patients with maturation arrest (MA) was analyzed. Samples were subjected to mutL homolog 3 (MLH3) mutation analysis by denaturing high-performance liquid chromatography/sequencing and quantification of MMR expression in testicular tissue by real-time polymerase chain reaction (PCR). Microsatellite instability assays were negative. Two missense and 1 intronic mutations were found. The missense mutation 2531C/T (P844 L), predicted to affect MLH3 function, was found in 3 MA cases in association with the intronic variant IVS9 + 66G/A. Relative messenger RNA (mRNA) quantification identified 2 patients who overexpressed MLH3, 1 of them also overexpressing mutL homolog 1 (MLH1). The latter also presented the 2531C/T-IVS9 + 66G/A mutation. In conclusion, we suggest that a predominance of MLH3 expression might favor the MLH1/MLH3 complex which then would compete with the MLH1/PMS2 complexes. This could convey disruption of the relative stoichiometry between MLH1/MLH3 and MLH1/PMS2 complexes, thus causing meiosis failure, as MLH1/PMS2 complexes are supposed to replace MLH1/MLH3 during diplonema.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 10