Albacete Science and Technology Park.
Regional Center for Biomedical Research.
School of Farmacy, University of Castilla-La Mancha
My research is focused on the genetic study of several epigenetically controlled phenomena. Epigenetic marks are very interesting: they modulate gene activity and chromosomal functions, and can be inherited, as well as modified or erased. Moreover, they mediate interactions between the genome and the environment, generate phenotypic variation and underlie the etiology of several complex diseases.
One of these phenomena is imprinting, which defy the classical Mendelian assumption of simultaneous and equivalent expression of both copies of a gene. In contrast, imprinted genes are expressed only (or preferentially) from one allele, in a parent-of-origin dependent manner. This monoallelic expression is regulated by epigenetic marks.
Imprinted genes are very important in development and, when altered, are involved in a number of diseases, like cancer. One of the most common alterations is Loss of Imprinting (LOI), which often results in the expression of the normally silent allele. It has been assumed that LOI can be harmful as a result of a subsequent increase in the expression levels of the imprinted gene that disturbs the normal functioning of the cells. Therefore, alterations of imprinted genes expression dosage would have deleterious effects.
However, relaxation of imprinting is also observed in healthy individuals. Moreover, it is unclear if the establishment of imprinting was hampered by the effects of gene expression dosage halving. In vertebrates, imprinted genes are only found in mammals and the data suggest they were originated from biallelically expressed genes.
To shed some light on these issues, my laboratory investigates three aspects of imprinting: first, we aim to identify novel imprinted genes based on epigenetic or evolutionary data. Second, we investigate if the establishment of imprinted expression involved gene expression dosage changes or adjustments. We also study imprinting origin in the context of the evolution of the regions that contain imprinted genes. And third, we aim to elucidate the basis of the implications of LOI in disease.
Proyect title: Identification of new imprinted genes: imprinting evolution and implications in disease.
Funding agency: Consejería de Educación y Ciencia de la JCCM.
P.I.: Elena de la Casa-Esperón.
Regional Center for Biomedical Research (CRIB)
University of Castilla-La Mancha School of Medicine/Albacete Science and Technology Park
C/Almansa 14. 02006 Albacete. SPAIN
Phone: (+34) 967599200 ext. 2890 (lab: 2891)
Fax: (+34) 967599360