RESUMEN
We identified Bcar3 in the course of a screen for developmentally regulated genes at early developmental stages in mouse embryos. In this study, we explored the spatio-temporal expression pattern of Bcar3 during the critical time period of sex determination using in situ hybridization, real-time RT-PCR, and immunohistochemistry. We found that Bcar3 is expressed in XY gonads during early stages of gonad development and that BCAR3 localizes to Sertoli cells and germs cells. In addition, we identified a new alternative Bcar3 transcript in which exons 4-7 are deleted. This deletion could result in the generation of a truncated BCAR3 protein lacking functional domains including the SH2 domain. The data presented here suggest that Bcar3 could play a role in gonad development.
Asunto(s)
Expresión Génica , Factores de Intercambio de Guanina Nucleótido/genética , Células de Sertoli/metabolismo , Espermatozoides/metabolismo , Testículo/embriología , Proteínas Adaptadoras Transductoras de Señales , Animales , Exones/genética , Femenino , Eliminación de Gen , Edad Gestacional , Inmunohistoquímica , Hibridación in Situ , Masculino , Ratones , Ovario/química , Ovario/embriología , ARN Mensajero/análisis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Células de Sertoli/química , Procesos de Determinación del Sexo/genética , Espermatozoides/química , Testículo/químicaRESUMEN
We aimed to trace the allele specific expression of ANXA5 mRNA in placentas carrying the M2 haplotype, conferring higher recurrent pregnancy loss risk, in order to verify directly the role of M2 in the relevant organ. The M2 allele in heterozygous placentas results in an average of 42% reduced ANXA5 mRNA levels as compared to the normal allele. Protein levels in these samples show considerable variations, impossible for statistical interpretation. The M2 allele of ANXA5 can be linked to reduced mRNA levels in heterozygous placentas and could result in more confined protein levels (lowered expression dynamics) of annexin A5.