Research Awards
Sam Pfaff, Ph.D.
Salk Institute
Analysis of Neuronal Development, Axon guidance and Connectivity in MeCP2 mutant mice
$50,000
Lay Progress Report (August 2005)
The methyl-CpG binding protein MeCP2 is thought to control gene expression epigentically, which has made it difficult to predict what CNS functions are comprised in MeCP2 mutant cells. Therefore, the main objective of this proposal is to identify cellular processes that fail to occur properly in MeCP2 mouse mutants. We will focus on development of the CNS because human males deficient in MeCP2 exhibit profound defects at birth, and mouse genetic studies have helped to narrow the key functions of MeCP2 to post mitotic neurons. Two key aspects of CNS development will be examined: neuronal subtype specification and axon navigation. A better understanding of MeCP2's functions in CNS development should help to target the appropriate pathways to ameliorate the devastating affects of this genetic disease.
Our research objectives are directly related to two of the key objectives of the RSRF:
1) To characterize the role of MeCP2, including MeCP2-target genes in normal structure and function of the nervous system.
2) To describe the role of MeCP2 during normal brain development.
Sam Pfaff, Ph.D.Salk Institute
Analysis of Neuronal Development, Axon guidance and Connectivity in MeCP2 mutant mice
$50,000
Lay Progress Report (August 2005)
The methyl-CpG binding protein MeCP2 is thought to control gene expression epigentically, which has made it difficult to predict what CNS functions are comprised in MeCP2 mutant cells. Therefore, the main objective of this proposal is to identify cellular processes that fail to occur properly in MeCP2 mouse mutants. We will focus on development of the CNS because human males deficient in MeCP2 exhibit profound defects at birth, and mouse genetic studies have helped to narrow the key functions of MeCP2 to post mitotic neurons. Two key aspects of CNS development will be examined: neuronal subtype specification and axon navigation. A better understanding of MeCP2's functions in CNS development should help to target the appropriate pathways to ameliorate the devastating affects of this genetic disease.
Our research objectives are directly related to two of the key objectives of the RSRF:
1) To characterize the role of MeCP2, including MeCP2-target genes in normal structure and function of the nervous system.
2) To describe the role of MeCP2 during normal brain development.