Project Description

Congenital anomalies of the kidney and urinary tract (CAKUT) are structural abnormalities; it is a common malformation at birth and affects 3-7 per 1000 newborns. CAKUT is associated with 40-50% of the world population by End Stage Renal Disease (ESRD); clinical reports of CAKUT suggest that 15% of patients with the unsuspected genomic disorder will increase the risks like neurocognitive impairments and other organ system defects. In the embryonic stage, ureteric bud(UB) and Metanephric mesenchyme(MM) are intermediate events of mesenchymal progenitors. These embryologic stages need tight regulation at the DNA level and are mediated by transcriptional factors. Among various FOX group proteins, FOXC1 is a fork head domain protein known to bind DNA and regulate DNA transcription. These steps are affected by the dysfunction of genes causing the CAKUT. Differentiating the syndromic, non-syndromic form of CAKUT and its encoding genomic disorders are poorly understood. However, the degree of variability and anatomical classification of the primary molecular etiology often needs to be more formal. The present study investigates the FOXC1/P1 and ZMYM2 pathogenesis and interacting/including components of Pol III complex, particularly TFIIIC (RPC3), necessary and identify the specific role behind the disease development. RNA pol III transcribes tRNA, 5S rRNA, and U6 snRNA. The project outcome will give information/role in TFIIIC and its relation/effect to Pol III, mainly identifying the tRNA biogenesis and its link to renal malformation.