We have recently demonstrated that gene targeting via homologous recombination in zebrafish is feasible (Zuatal, Nature Methods, 2013). Homologous recombination in zebrafish with a dsDNA donor makes it possible to knock-in variants of human genes of rare and undiagnosed diseases into zebrafish genome. We have selected four such genes that are conserved between zebrafish and human for genomic knock-in studies. These zebrafish models should facilitate the understanding of genetics, biochemistry and pathophysiology of these newly diagnosed disease genes.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Exploratory/Developmental Grants (R21)
Project #
1R21GM109908-01
Application #
8668393
Study Section
Special Emphasis Panel (ZHG1)
Program Officer
Krasnewich, Donna M
Project Start
2014-09-15
Project End
2016-08-31
Budget Start
2014-09-15
Budget End
2015-08-31
Support Year
1
Fiscal Year
2014
Total Cost
Indirect Cost
Name
University of California Los Angeles
Department
Biochemistry
Type
Schools of Arts and Sciences
DUNS #
City
Los Angeles
State
CA
Country
United States
Zip Code
90095
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet 97:99-110