INGEBI   02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
The NPAS3 Gene Locus Contains the Highest Number of Non-Coding Accelerated Elements in the Human Genome
Autor/es:
GRETEL B. KAMM; LÓPEZ-LEAL RODRIGO; RUBINSTEIN MARCELO; FRANCHINI LUCÍA F.
Lugar:
Huerta Grande
Reunión:
Congreso; XXVI Reunión Anual de la Sociedad Argentina de Investigación en Neurociencia; 2011
Institución organizadora:
SAN
Resumen:
Using available datasets of genomic elements that show evidence of rapid evolution in the human lineage termed human accelerated elements (HAE) we uncovered the most accelerated region in the human genome. This region is located in chromosome 14 and contains 11 accelerated elements and includes the gene NPAS3. This gene is a transcription factor of the bHLH-PAS family that is broadly expressed in the developing mouse nervous system playing an important role in normal brain development and neurosignaling pathways. In addition, its dysfunction has been associated with schizophrenia in humans. The finding that this gene shows a set of highly conserved putative regulatory regions that evolved faster in the human lineage suggests that it might have acquired a new expression pattern in the human brain and probably a novel function. Using a transposon-based transgenic assay in zebrafish we tested the ability of NPAS3 elements to function as developmental enhancers. Our results indicated that 9 out of the 11 HAE are developmental enhancers. Additionally, we performed a comparative expression analysis over selected NPAS3 elements in transgenic mice. So far our results show that ortholog human and mouse sequences of two HAE display differences in expression patterns in transgenic mouse.