Molecular regulation of neural crest contribution in the developing cardiac outflow tract

Doctor's Name: 
Lazaros Kochilas, MD
University of Pennsylvania

This is a study to assess mouse neural crest cells for gene clone 35. This is an in depth analysis with at least experimental protocols to be performed. They will look at expression analysis of clone 35 through multiple developmental stages, as well as developing full-length cDNA clones to see if attenuative isoforms exist. They will utilize antibodies prepared from rabbits to help localize the protein molecule within the cell, in order to prove that clone 35 encodes a transmembrane protein. A full genetic mapping of clone 35 is planned along with assessing the function of clone 35 by inactivating part of it. Ultimately, mouse cell lines will be bred with inactive portions of clone 35 to assess the impact of this gene on cardiac development. This represents only the first portion of the study protocol. The second portion of the study design is to develop neural crest cell markers in mice. Apparently, this has not been able to be done previously. The ultimate rational behind this goal is to be able to genetically alter this region in fetuses by gene therapy to prevent congenital defects. The CHF is supporting this research project in partnership with the National Institute of Health (NIH). Dr. Kochilas was awarded a NIH-KO8 grant in 2000.

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