Gene Function

Gene Function

Gene Regulation, Stem Cells and Cancer

Gene Function

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Gene Function

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1989 Ph.D. in Biology, Centro de Biología Molecular-CBM, Universidad Autónoma de Madrid (Spain).
1990-1992 Postdoctoral position, Centro Nacional de Biotecnología-CNB, Madrid (Spain).
1993-1996 Posdoctoral position, National Institute for Medical Research-NIMR/MRC, London (United Kingdom).
1996-1998 Posdoctoral position, Department of Biochemistry-IBSL, University of Glasgow (United Kingdom).
1999-2001 Research position, Institut de Recerca Oncològica-IRO, Barcelona (Spain).
2001 ICREA Research Professor and Group Leader at the Center for Genomic Regulation, Barcelona (Spain).

Summary

Many human diseases can be caused by mutations in one or more genes. From a very broad point of view, the alterations can be classified in two different groups:

i) Nucleotide mutations in a single gene, either in the untranscribed, the untranslated or the primary sequence of the protein encoded. The defects may result not only in the lack of gene function, but also in the generation of a protein product with different functional properties. For this group of mutations it is feasible to relate, to a great extent, the findings at the molecular level with the clinical phenotypes.

ii) Chromosome mutations in which the number or the structure of chromosomes are altered. In these cases, the link between the disease and the defect is more difficult to be established, since more than one gene contribute to the development of the disease. For most of the second group of genetic abnormalities, the molecular basis of the defects caused by the mutations are related to gene-dosage effects due to the presence of either only one copy (deletions and monosomies) or more than two copies of the genes affected (duplications and trisomies). One of such genetic diseases is trisomy 21 or Down syndrome (DS), the main genetic cause of mental retardation.

The group interests are mainly directed to defining how dosage imbalance of human chromosome 21 (HSA21) genes can contribute to specific pathological alterations. In this sense, we find particularly appealing signalling pathways, subjected to spatial and temporal regulation, in which the extent of the signalling can be modulated by the “amount” of the components of the pathway in such a way that variations can result in alterations of the final physiological outcome.