RESUMO
Genomic imprinting is an epigenetic marking mechanism by which certain genes become repressed on one of the two parental alleles. Imprinting plays important roles in mammalian development, and in humans its deregulation may result in disease and carcinogenesis. During different medical, technological and scientific interventions, pre-implantation embryos and cells are taken from their natural environment and subjected to culture in artificial media. Studies in the mouse demonstrate that environmental stress, such as in vitro culture, can affect the somatic maintenance of epigenetic marks at imprinted loci. These effects are associated with aberrant growth and morphology at fetal and perinatal stages of development.
Assuntos
Impressão Genômica , Animais , Cromatina/metabolismo , Anormalidades Congênitas/etiologia , Metilação de DNA , Meio Ambiente , Humanos , Fator de Crescimento Insulin-Like II/genética , Técnicas de Cultura de Órgãos , RNA Longo não Codificante , RNA não Traduzido/genéticaRESUMO
A reciprocal translocation was identified in a phenotypically normal Large White boar. Chromosome preparations from the carrier were studied by flow sorting, chromosome painting and G-banding. The flow karyotype displayed one additional clearly distinguishable peak, while in situ hybridization and G-banding showed two abnormal chromosomes involved in the translocation. All the results suggested that the translocation involved chromosomes 7 and 15 and the karyotype investigated was 38,XY,rcp(7;15)(q24;q12). The parents and three full sibs of the carrier had normal karyotypes. It would seem that the translocation had arisen de novo.
