Congenital abnormalities of the kidney and urinary tract (CAKUT) are a highly diverse group of diseases that together belong to the most common abnormalities detected in the new-born child. Consistent with this diversity, CAKUT are caused by mutations in a large number of genes and present a wide spectrum of phenotypes. In this review, we will focus on duplex kidneys, a relatively frequent form of CAKUT that is often asymptomatic but predisposes to vesicoureteral reflux and hydronephrosis. We will summarise the molecular programs responsible for ureter induction, review the genes that have been identified as risk factors in duplex kidney formation and discuss molecular and cellular mechanisms that may lead to this malformation.
The distribution of rotavirus G-types in the world appears to be changing, especially with the emergence of G3 and G9 in many countries. Sequence analysis of the VP7 gene was performed on the 27 human G3 rotavirus strains isolated in China, Russia, Thailand, and Vietnam during 2001-2004. All the strains studied were clustered into the same branch of the phylogenetic tree. The comparison of the G3 deduced amino acid sequences between the studied Chinese strains and the strains circulating in China during 1986-1992 showed a wide range of amino acid substitutions (up to 13 amino acids in the VP7 antigenic regions). The two considerable changes both from aspartic acid to asparagine were located at positions 96 in antigenic region A and 213 in antigenic region C. Those amino acid substitutions of the Chinese G3 strains might involve in the emergence of G3 rotavirus in China during 2001-2003.
Congenital abnormalities of the kidney and the urinary tract (CAKUT) belong to the most common birth defects in human, but the molecular basis for the majority of CAKUT patients remains unknown. Here we show that the transcription factor SOX11 is a crucial regulator of kidney development. SOX11 is expressed in both mesenchymal and epithelial components of the early kidney anlagen. Deletion of Sox11 in mice causes an extension of the domain expressing Gdnf within rostral regions of the nephrogenic cord and results in duplex kidney formation. On the molecular level SOX11 directly binds and regulates a locus control region of the protocadherin B cluster. At later stages of kidney development, SOX11 becomes restricted to the intermediate segment of the developing nephron where it is required for the elongation of Henle's loop. Finally, mutation analysis in a cohort of patients suffering from CAKUT identified a series of rare SOX11 variants, one of which interferes with the transactivation capacity of the SOX11 protein. Taken together these data demonstrate a key role for SOX11 in normal kidney development and may suggest that variants in this gene predispose to CAKUT in humans.
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