20 January 2021
New gene linked to heritable kidney disease
Published online 8 July 2013
The genetic disorder nephronophthisis (NPHP) is the most common cause of kidney failure in children. It is linked to mutations in several genes that encode proteins involved in the function of primary cilia — cellular projections found on most of the body's cells.
Sylvia Hoff from the University of Freiburg Medical Center, Germany, has led a study involving Neveen Elshakhs at Cairo University, that has identified a protein, ANKS6, associated with NPHP, publishing their results in Nature Genetics1.
Most NPHP-associated proteins interact to form larger networks that influence tissue development and function. Four such protein networks are known, one of which includes the ciliary proteins INVS, NPHP3 and NEK8. The team found that ANKS6 is a key component in linking NEK8 to INVS and NPHP3. They also found that ANKS6 is connected to the gene HIF1AN that facilitates the binding of proteins in the ANKS6-INVS-NPHP3 complex.
They then knocked-out the gene encoding ANKS6 in zebrafish and the African clawed frog to study its role in the embryonic development. The absence of ANKS6 led to the formation of kidney cysts, confirming the role of ANKS6 in the normal development of the kidneys.
- Hoff, S. et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature Genetics (2013) doi:10.1038/ng.2681